A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
'Elastin' is a highly elastic protein in connective tissue that allows many tissues in the body to resume their shape after stretching or contracting, such as the skin, lungs, and blood vessels.
The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.
The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.
A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Transplant comprised of an individual's own tissue, transferred from one part of the body to another.
Surgical insertion of synthetic material to repair injured or diseased heart valves.
A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A conical fibro-serous sac surrounding the HEART and the roots of the great vessels (AORTA; VENAE CAVAE; PULMONARY ARTERY). Pericardium consists of two sacs: the outer fibrous pericardium and the inner serous pericardium. The latter consists of an outer parietal layer facing the fibrous pericardium, and an inner visceral layer (epicardium) resting next to the heart, and a pericardial cavity between these two layers.
Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)
A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.
A characteristic symptom complex.
Procedures in which placement of CARDIAC CATHETERS is performed for therapeutic or diagnostic procedures.
Narrowing or constriction of a coronary artery.
Narrowing of the spinal canal.
Tracheal stenosis is a medical condition characterized by an abnormal narrowing or constriction of the lumen of the trachea, which can lead to respiratory distress and other related symptoms.
Narrowing of the passage through the MITRAL VALVE due to FIBROSIS, and CALCINOSIS in the leaflets and chordal areas. This elevates the left atrial pressure which, in turn, raises pulmonary venous and capillary pressure leading to bouts of DYSPNEA and TACHYCARDIA during physical exertion. RHEUMATIC FEVER is its primary cause.
Measurement of intracardiac blood flow using an M-mode and/or two-dimensional (2-D) echocardiogram while simultaneously recording the spectrum of the audible Doppler signal (e.g., velocity, direction, amplitude, intensity, timing) reflected from the moving column of red blood cells.
Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
Pathologic deposition of calcium salts in tissues.
Use or insertion of a tubular device into a duct, blood vessel, hollow organ, or body cavity for injecting or withdrawing fluids for diagnostic or therapeutic purposes. It differs from INTUBATION in that the tube here is used to restore or maintain patency in obstructions.
The condition of an anatomical structure's being constricted beyond normal dimensions.
Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
An infant during the first month after birth.
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The interaction of persons or groups of persons representing various nations in the pursuit of a common goal or interest.

Elastic and collagenous networks in vascular diseases. (1/33)

Supravalvular aortic stenosis (SVAS), Marfan syndrome (MFS) and Ehlers-Danlos syndrome type IV (EDS IV) are three clinical entities characterized by vascular abnormalities that result from mutations of structural components of the extracellular matrix (ECM). Analyses of naturally occurring human mutations and of artificially generated deficiencies in the mouse have provided insights into the pathogenesis of these heritable disorders of the connective tissue. SVAS is associated with haploinsufficiency of elastin, one of the two major components of the elastic fibers. SVAS is characterized by narrowing of the arterial lumen due to the failure of regulation of cellular proliferation and matrix deposition. Mutations in fibrillin 1 are the cause of dissecting aneurysm leading to rupture of the ascending aorta. Fibrillin-1 is the building block of the microfibrils that span the entire thickness of the aortic wall and are a major component of the elastic fibers that reside in the medial layer. The vascular hallmark of EDS IV is rupture of large vessels. The phenotype is caused by mutations in type III collagen. The mutations ultimately affect the overall architecture of the collagenous network and the biomechanical properties of the adventitial layer of the vessel wall. Altogether, these genotype-phenotype correlations document the diversified contributions of distinct extracellular macroaggregates to the assembly and function of the vascular matrix.  (+info)

Hypoplastic left heart syndrome. (2/33)

Hypoplastic left heart syndrome may be accurately diagnosed during fetal life. Prenatal diagnosis provides the opportunity for parents to make an informed choice about their options, including surgery, nonintervention postnatally or termination of pregnancy. Short to medium term survival continues to improve for a condition that was previously invariably lethal. There continues to be a significant mortality and morbidity associated with hypoplastic left heart syndrome, and the long-term prognosis is unknown. Knowledge of the condition prior to birth means that babies who are to undergo surgery present in optimal condition for such interventions. Parents who have had an affected fetus or child should be offered detailed fetal echocardiography to exclude a recurrence in subsequent pregnancies.  (+info)

Elastin: mutational spectrum in supravalvular aortic stenosis. (3/33)

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component of Williams syndrome. SVAS is caused by translocations, gross deletions and point mutations that disrupt the elastin gene (ELN) on 7q11.23. Functional hemizygosity for elastin is known to be the cause of SVAS in patients with gross chromosomal abnormalities involving ELN. However, the pathogenic mechanisms of point mutations are less clear. One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. Mutations associated with the vascular disease were detected in 35 patients, and included nonsense, frameshift, translation initiation and splice site mutations. The four missense mutations identified are the first of this type to be associated with SVAS. Here we describe the spectrum of mutations occurring in familial and sporadic SVAS and attempt to define the mutational mechanisms involved in SVAS. SVAS shows variable penetrance within families but the progressive nature of the disorder in some cases, makes identification of the molecular lesions important for future preventative treatments.  (+info)

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. (4/33)

To elucidate the pathomechanism leading to obstructive vascular disease in patients with elastin deficiency, we compared both elastogenesis and proliferation rate of cultured aortic smooth-muscle cells (SMCs) and skin fibroblasts from five healthy control subjects, four patients with isolated supravalvular aortic stenosis (SVAS), and five patients with Williams-Beuren syndrome (WBS). Mutations were determined in each patient with SVAS and in each patient with WBS. Three mutations found in patients with SVAS were shown to result in null alleles. RNA blot hybridization, immunostaining, and metabolic labeling experiments demonstrated that SVAS cells and WBS cells have reduced elastin mRNA levels and that they consequently deposit low amounts of insoluble elastin. Although SVAS cells laid down approximately 50% of the elastin made by normal cells, WBS cells deposited only 15% of the elastin made by normal cells. The observed difference in elastin-gene expression was not caused by a difference in the stability of elastin mRNA in SVAS cells compared with WBS cells, but it did indicate that gene-interaction effects may contribute to the complex phenotype observed in patients with WBS. Abnormally low levels of elastin deposition in SVAS cells and in WBS cells were found to coincide with an increase in proliferation rate, which could be reversed by addition of exogenous insoluble elastin. We conclude that insoluble elastin is an important regulator of cellular proliferation. Thus, the reduced net deposition of insoluble elastin in arterial walls of patients with either SVAS or WBS leads to the increased proliferation of arterial SMCs. This results in the formation of multilayer thickening of the tunica media of large arteries and, consequently, in the development of hyperplastic intimal lesions leading to segmental arterial occlusion.  (+info)

Supravalvular aortic stenosis and peripheral pulmonary stenosis coexisting with a straight thoracic spine. (5/33)

Supravalvular aortic stenosis (SVAS) is recognized in cases of Williams syndrome and in sporadic cases not associated with other features of the syndrome. It is also well recognized as associated with peripheral pulmonary stenosis (PPS). A male patient was diagnosed as having PPS at the age of 1 year and 8 months, and was found at the age of 18 years to have SVAS. Cardiac catheterization showed that he had a localized type of SVAS and regression of the PPS. Chest X-ray showed that he did not have the normal thoracic curvature. His 19-year-old sister had also been diagnosed with PPS, and his 43-year-old mother was known to have a harsh systolic cardiac murmur of unknown etiology. Cardiac magnetic resonance imaging showed a localized type of SVAS in his mother also, though not in his sister, both of whom had a somewhat straight thoracic spine, most noticeably in the mother, though not to the degree observed in the patient. This case appears to be familial, though it is not clear whether this skeletal abnormality is an unknown phenotypic feature of this cardiovascular disease.  (+info)

Williams syndrome associated with complete atrioventricular septal defect. (6/33)

Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.  (+info)

Follow-up study of morphology and cardiac function in rats undergoing induction of supravalvular aortic stenosis. (7/33)

OBJECTIVE: To characterize the follow-up of an experimental model of left ventricular hypertrophy (LVH) induced by supravalvular ascending aortic stenosis in young rats. METHODS: Wistar rats were submitted to thoracotomy and aortic stenosis was created by placing a clip on the ascending aorta (AoS group, n=12). Age-matched control animals underwent a sham operation (C group, n=12). Cardiac function was analysed by echocardiograms performed 6, 12, and 21 weeks after aortic banding. Myocardial morphological features and myocardial hydroxyproline concentration (HOP) were evaluated 2, 6, 12, and 21 weeks after surgery in additional animals. RESULTS: Aortic banding promoted early concentric LVH and a progressive increase in HOP. Under light microscopy, we observed myocyte hypertrophy and wall thickening of the intramural branches of the coronary arteries due to medial hypertrophy. Cardiac function was supranormal after 6 weeks (percentage of fractional shortening - EAo6: 70.3 +/- 10.8; C6: 61.3 +/- 5.4; p<0.05), and depressed in the last period. Diastolic dysfunction was detected after 12 weeks (ratio of early-to-late filling velocity - EAo12: 4.20 +/- 3.25; C12: 1.61 +/- 0.16; p<0.05). CONCLUSION: Ascending aortic stenosis promotes concentric LVH with myocardial fibrosis and minimal histological changes. According to the period of evaluation, cardiac function may be improved, normal, or depressed. The model is suitable and useful for studies on pathophysiology and treatment of the different phases of cardiac hypertrophy.  (+info)

Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study. (8/33)

OBJECTIVE: To estimate the incidence and document the clinical characteristics of Williams-Beuren syndrome in the Hong Kong Chinese population. DESIGN: Cytogenetic analysis and retrospective study. SETTING: Clinical Genetic Service, Department of Health, Hong Kong. PATIENTS: Forty-one Chinese patients with Williams-Beuren syndrome. MAIN OUTCOME MEASURES: From 1 January 1995 to 30 June 2002, fluorescence in situ hybridisation was used to confirm diagnoses in 41 cases of Williams-Beuren syndrome by detecting chromosome 7q microdeletion. Case records were reviewed, the incidence of the condition in the local population was estimated, and the main clinical characteristics were determined. RESULTS: The minimal incidence of Williams-Beuren syndrome in this locality was estimated to be approximately 1 per 23500 live births. Common dysmorphic facial features included periorbital fullness (83%), full lips (80%), a long philtrum (51%), a flat nasal bridge (41%), and abnormal teeth (37%). No patients had a stellate iris. The majority (82%) had at least one documented cardiac anomaly; among these patients, peripheral pulmonary stenosis was diagnosed in 61% and supravalvular aortic stenosis in 45%. Nearly all (93%) of the study group exhibited developmental delay. CONCLUSION: As in the West, patients with Williams-Beuren syndrome in the Hong Kong Chinese population display craniofacial dysmorphism, cardiovascular anomalies, and mental deficiency. Supravalvular aortic stenosis-the cardiac defect most commonly associated with Williams-Beuren syndrome in western countries-is less common than peripheral pulmonary stenosis in this region. Studies involving periodic cardiovascular evaluation are needed to confirm if this difference is significant.  (+info)

Supravalvular Aortic Stenosis (SVAS) is a rare congenital heart defect that affects the narrowing of the aorta just above the aortic valve. This condition is caused by a genetic disorder that affects the development of the elastic fibers in the media layer of the artery.

In SVAS, the narrowing or obstruction can occur in various locations along the aorta and its major branches, leading to varying degrees of severity. The aortic valve itself is usually normal, but the narrowing can affect the blood flow from the heart to the rest of the body, causing the left ventricle to work harder and potentially leading to heart failure over time.

Symptoms of SVAS may include chest pain, shortness of breath, fatigue, and poor growth in children. The diagnosis is typically made through imaging tests such as echocardiography or cardiac catheterization. Treatment options for SVAS may include medication to manage symptoms, balloon dilation or surgical repair to widen the narrowed area, or in severe cases, heart transplantation.

Aortic valve stenosis is a cardiac condition characterized by the narrowing or stiffening of the aortic valve, which separates the left ventricle (the heart's main pumping chamber) from the aorta (the large artery that carries oxygen-rich blood to the rest of the body). This narrowing or stiffening prevents the aortic valve from opening fully, resulting in reduced blood flow from the left ventricle to the aorta and the rest of the body.

The narrowing can be caused by several factors, including congenital heart defects, calcification (hardening) of the aortic valve due to aging, or scarring of the valve due to rheumatic fever or other inflammatory conditions. As a result, the left ventricle must work harder to pump blood through the narrowed valve, which can lead to thickening and enlargement of the left ventricular muscle (left ventricular hypertrophy).

Symptoms of aortic valve stenosis may include chest pain or tightness, shortness of breath, fatigue, dizziness or fainting, and heart palpitations. Severe aortic valve stenosis can lead to serious complications such as heart failure, arrhythmias, or even sudden cardiac death. Treatment options may include medications to manage symptoms, lifestyle changes, or surgical intervention such as aortic valve replacement.

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

Elastin is a protein that provides elasticity to tissues and organs, allowing them to resume their shape after stretching or contracting. It is a major component of the extracellular matrix in many tissues, including the skin, lungs, blood vessels, and ligaments. Elastin fibers can stretch up to 1.5 times their original length and then return to their original shape due to the unique properties of this protein. The elastin molecule is made up of cross-linked chains of the protein tropoelastin, which are produced by cells called fibroblasts and then assembled into larger elastin fibers by enzymes called lysyl oxidases. Elastin has a very long half-life, with some estimates suggesting that it can remain in the body for up to 70 years or more.

Pulmonary Valve Stenosis is a cardiac condition where the pulmonary valve, located between the right ventricle and the pulmonary artery, has a narrowed opening. This stenosis (narrowing) can cause obstruction of blood flow from the right ventricle to the lungs. The narrowing can be caused by a fusion of the valve leaflets, thickened or calcified valve leaflets, or rarely, a dysplastic valve.

The severity of Pulmonary Valve Stenosis is classified based on the gradient pressure across the valve, which is measured during an echocardiogram. A mild stenosis has a gradient of less than 30 mmHg, moderate stenosis has a gradient between 30-59 mmHg, and severe stenosis has a gradient of 60 mmHg or higher.

Mild Pulmonary Valve Stenosis may not require treatment, while more severe cases may need to be treated with balloon valvuloplasty or surgical valve replacement. If left untreated, Pulmonary Valve Stenosis can lead to right ventricular hypertrophy, heart failure, and other complications.

The aortic valve is the valve located between the left ventricle (the lower left chamber of the heart) and the aorta (the largest artery in the body, which carries oxygenated blood from the heart to the rest of the body). It is made up of three thin flaps or leaflets that open and close to regulate blood flow. During a heartbeat, the aortic valve opens to allow blood to be pumped out of the left ventricle into the aorta, and then closes to prevent blood from flowing back into the ventricle when it relaxes. Any abnormality or damage to this valve can lead to various cardiovascular conditions such as aortic stenosis, aortic regurgitation, or infective endocarditis.

Discrete subaortic stenosis is a medical condition that refers to a narrowing (stenosis) in the outflow tract below the aortic valve of the heart. This narrowing is usually caused by a fibrous ring or a discrete ridge of tissue that partially obstructs the flow of blood from the left ventricle into the aorta.

Discrete subaortic stenosis can cause various symptoms, including shortness of breath, chest pain, fatigue, and syncope (fainting). In severe cases, it can lead to heart failure or even sudden death. The condition is often diagnosed using echocardiography, which can help evaluate the severity of the narrowing and any associated abnormalities.

Treatment for discrete subaortic stenosis typically involves surgical intervention to remove the obstructive tissue and relieve the obstruction. In some cases, a mechanical valve may be implanted to replace the damaged aortic valve. Regular follow-up care is necessary to monitor for any potential complications or recurrence of the narrowing.

An autograft, also known as an autologous graft, is a type of graft in which tissue is transferred from one part of the body to another in the same individual. In other words, the tissue is taken from the patient themselves and then transplanted to a different site on their own body. This can be done for a variety of reasons, such as to repair damaged or missing tissue due to injury, disease, or surgery.

There are several types of autografts, including:

* Skin grafts: In this type of autograft, healthy skin is taken from one part of the body and transplanted to another part of the body that has been damaged or lost its own skin due to burns, injury, or surgery.
* Bone grafts: In this type of autograft, bone tissue is taken from one part of the body and transplanted to another part of the body to repair a fracture or fusion, or to provide support for dental implants.
* Tendon grafts: In this type of autograft, tendons are taken from one part of the body and transplanted to another part of the body to replace damaged or torn tendons.
* Cartilage grafts: In this type of autograft, cartilage tissue is taken from one part of the body and transplanted to another part of the body to repair damaged or missing cartilage due to injury or disease.

Autografts are generally considered to be the "gold standard" for grafting procedures because they have a lower risk of rejection compared to allografts (grafts from another individual) and xenografts (grafts from an animal). However, there are some risks associated with autografts, including infection, bleeding, and pain at the donor site.

Heart valve prosthesis implantation is a surgical procedure where an artificial heart valve is inserted to replace a damaged or malfunctioning native heart valve. This can be necessary for patients with valvular heart disease, including stenosis (narrowing) or regurgitation (leaking), who do not respond to medical management and are at risk of heart failure or other complications.

There are two main types of artificial heart valves used in prosthesis implantation: mechanical valves and biological valves. Mechanical valves are made of synthetic materials, such as carbon and metal, and can last a long time but require lifelong anticoagulation therapy to prevent blood clots from forming. Biological valves, on the other hand, are made from animal or human tissue and typically do not require anticoagulation therapy but may have a limited lifespan and may need to be replaced in the future.

The decision to undergo heart valve prosthesis implantation is based on several factors, including the patient's age, overall health, type and severity of valvular disease, and personal preferences. The procedure can be performed through traditional open-heart surgery or minimally invasive techniques, such as robotic-assisted surgery or transcatheter aortic valve replacement (TAVR). Recovery time varies depending on the approach used and individual patient factors.

Aortic stenosis, subvalvular is a medical condition that refers to the narrowing or obstruction of the outflow tract below the aortic valve in the heart. This abnormal narrowing can be caused by various factors such as a congenital heart defect, a tissue growth, or scarring from previous procedures. As a result, the left ventricle must work harder to pump blood through the narrowed opening, which can lead to thickening of the heart muscle (hypertrophy) and decreased cardiac output. Symptoms may include chest pain, shortness of breath, fatigue, and dizziness or fainting spells. Severe subvalvular aortic stenosis can lead to serious complications such as heart failure or even sudden death, and may require surgical intervention to correct the problem.

The pericardium is the double-walled sac that surrounds the heart. It has an outer fibrous layer and an inner serous layer, which further divides into two parts: the parietal layer lining the fibrous pericardium and the visceral layer (epicardium) closely adhering to the heart surface.

The space between these two layers is filled with a small amount of lubricating serous fluid, allowing for smooth movement of the heart within the pericardial cavity. The pericardium provides protection, support, and helps maintain the heart's normal position within the chest while reducing friction during heart contractions.

Carotid stenosis is a medical condition that refers to the narrowing or constriction of the lumen (inner space) of the carotid artery. The carotid arteries are major blood vessels that supply oxygenated blood to the head and neck. Carotid stenosis usually results from the buildup of plaque, made up of fat, cholesterol, calcium, and other substances, on the inner walls of the artery. This process is called atherosclerosis.

As the plaque accumulates, it causes the artery to narrow, reducing blood flow to the brain. Severe carotid stenosis can increase the risk of stroke, as a clot or debris from the plaque can break off and travel to the brain, blocking a smaller blood vessel and causing tissue damage or death.

Carotid stenosis is typically diagnosed through imaging tests such as ultrasound, CT angiography, or MRI angiography. Treatment options may include lifestyle modifications (such as quitting smoking, controlling blood pressure, and managing cholesterol levels), medications to reduce the risk of clots, or surgical procedures like endarterectomy or stenting to remove or bypass the blockage.

A heart valve prosthesis is a medical device that is implanted in the heart to replace a damaged or malfunctioning heart valve. The prosthetic valve can be made of biological tissue (such as from a pig or cow) or artificial materials (such as carbon or polyester). Its function is to allow for the proper directional flow of blood through the heart, opening and closing with each heartbeat to prevent backflow of blood.

There are several types of heart valve prostheses, including:

1. Mechanical valves: These are made entirely of artificial materials and have a longer lifespan than biological valves. However, they require the patient to take blood-thinning medication for the rest of their life to prevent blood clots from forming on the valve.
2. Bioprosthetic valves: These are made of biological tissue and typically last 10-15 years before needing replacement. They do not require the patient to take blood-thinning medication, but there is a higher risk of reoperation due to degeneration of the tissue over time.
3. Homografts or allografts: These are human heart valves that have been donated and preserved for transplantation. They have similar longevity to bioprosthetic valves and do not require blood-thinning medication.
4. Autografts: In this case, the patient's own pulmonary valve is removed and used to replace the damaged aortic valve. This procedure is called the Ross procedure and has excellent long-term results, but it requires advanced surgical skills and is not widely available.

The choice of heart valve prosthesis depends on various factors, including the patient's age, overall health, lifestyle, and personal preferences.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Cardiac catheterization is a medical procedure used to diagnose and treat cardiovascular conditions. In this procedure, a thin, flexible tube called a catheter is inserted into a blood vessel in the arm or leg and threaded up to the heart. The catheter can be used to perform various diagnostic tests, such as measuring the pressure inside the heart chambers and assessing the function of the heart valves.

Cardiac catheterization can also be used to treat certain cardiovascular conditions, such as narrowed or blocked arteries. In these cases, a balloon or stent may be inserted through the catheter to open up the blood vessel and improve blood flow. This procedure is known as angioplasty or percutaneous coronary intervention (PCI).

Cardiac catheterization is typically performed in a hospital cardiac catheterization laboratory by a team of healthcare professionals, including cardiologists, radiologists, and nurses. The procedure may be done under local anesthesia with sedation or general anesthesia, depending on the individual patient's needs and preferences.

Overall, cardiac catheterization is a valuable tool in the diagnosis and treatment of various heart conditions, and it can help improve symptoms, reduce complications, and prolong life for many patients.

Coronary stenosis is a medical condition that refers to the narrowing of the coronary arteries, which supply oxygen-rich blood to the heart muscle. This narrowing is typically caused by the buildup of plaque, made up of fat, cholesterol, and other substances, on the inner walls of the arteries. Over time, as the plaque hardens and calcifies, it can cause the artery to become narrowed or blocked, reducing blood flow to the heart muscle.

Coronary stenosis can lead to various symptoms and complications, including chest pain (angina), shortness of breath, irregular heart rhythms (arrhythmias), and heart attacks. Treatment options for coronary stenosis may include lifestyle changes, medications, medical procedures such as angioplasty or bypass surgery, or a combination of these approaches. Regular check-ups and diagnostic tests, such as stress testing or coronary angiography, can help detect and monitor coronary stenosis over time.

Spinal stenosis is a narrowing of the spinal canal or the neural foramina (the openings through which nerves exit the spinal column), typically in the lower back (lumbar) or neck (cervical) regions. This can put pressure on the spinal cord and/or nerve roots, causing pain, numbness, tingling, or weakness in the affected areas, often in the legs, arms, or hands. It's most commonly caused by age-related wear and tear, but can also be due to degenerative changes, herniated discs, tumors, or spinal injuries.

Tracheal stenosis is a medical condition characterized by the abnormal narrowing of the trachea (windpipe), which can lead to difficulty breathing. This narrowing can be caused by various factors such as inflammation, scarring, or the growth of abnormal tissue in the airway. Symptoms may include wheezing, coughing, shortness of breath, and chest discomfort, particularly during physical activity. Treatment options for tracheal stenosis depend on the severity and underlying cause of the condition and may include medications, bronchodilators, corticosteroids, or surgical interventions such as laser surgery, stent placement, or tracheal reconstruction.

Mitral valve stenosis is a cardiac condition characterized by the narrowing or stiffening of the mitral valve, one of the four heart valves that regulate blood flow through the heart. This narrowing prevents the mitral valve from fully opening during diastole (relaxation phase of the heart cycle), leading to restricted flow of oxygenated blood from the left atrium into the left ventricle.

The narrowing or stiffening of the mitral valve can be caused by various factors, such as rheumatic heart disease, congenital heart defects, aging, or calcium deposits on the valve leaflets. As a result, the left atrium has to work harder to pump blood into the left ventricle, causing increased pressure in the left atrium and pulmonary veins. This can lead to symptoms such as shortness of breath, fatigue, coughing, and heart palpitations.

Mitral valve stenosis is typically diagnosed through a combination of medical history, physical examination, and imaging techniques like echocardiography or cardiac catheterization. Treatment options may include medications to manage symptoms and prevent complications, as well as surgical interventions such as mitral valve repair or replacement to alleviate the stenosis and improve heart function.

Doppler echocardiography is a type of ultrasound test that uses high-frequency sound waves to produce detailed images of the heart and its blood vessels. It measures the direction and speed of blood flow in the heart and major blood vessels leading to and from the heart. This helps to evaluate various conditions such as valve problems, congenital heart defects, and heart muscle diseases.

In Doppler echocardiography, a small handheld device called a transducer is placed on the chest, which emits sound waves that bounce off the heart and blood vessels. The transducer then picks up the returning echoes, which are processed by a computer to create moving images of the heart.

The Doppler effect is used to measure the speed and direction of blood flow. This occurs when the frequency of the sound waves changes as they bounce off moving objects, such as red blood cells. By analyzing these changes, the ultrasound machine can calculate the velocity and direction of blood flow in different parts of the heart.

Doppler echocardiography is a non-invasive test that does not require any needles or dyes. It is generally safe and painless, although patients may experience some discomfort from the pressure applied by the transducer on the chest. The test usually takes about 30 to 60 minutes to complete.

Aortic valve insufficiency, also known as aortic regurgitation or aortic incompetence, is a cardiac condition in which the aortic valve does not close properly during the contraction phase of the heart cycle. This allows blood to flow back into the left ventricle from the aorta, instead of being pumped out to the rest of the body. As a result, the left ventricle must work harder to maintain adequate cardiac output, which can lead to left ventricular enlargement and heart failure over time if left untreated.

The aortic valve is a trileaflet valve that lies between the left ventricle and the aorta. During systole (the contraction phase of the heart cycle), the aortic valve opens to allow blood to be pumped out of the left ventricle into the aorta and then distributed to the rest of the body. During diastole (the relaxation phase of the heart cycle), the aortic valve closes to prevent blood from flowing back into the left ventricle.

Aortic valve insufficiency can be caused by various conditions, including congenital heart defects, infective endocarditis, rheumatic heart disease, Marfan syndrome, and trauma. Symptoms of aortic valve insufficiency may include shortness of breath, fatigue, chest pain, palpitations, and edema (swelling). Diagnosis is typically made through physical examination, echocardiography, and other imaging studies. Treatment options depend on the severity of the condition and may include medication, surgery to repair or replace the aortic valve, or a combination of both.

Echocardiography is a medical procedure that uses sound waves to produce detailed images of the heart's structure, function, and motion. It is a non-invasive test that can help diagnose various heart conditions, such as valve problems, heart muscle damage, blood clots, and congenital heart defects.

During an echocardiogram, a transducer (a device that sends and receives sound waves) is placed on the chest or passed through the esophagus to obtain images of the heart. The sound waves produced by the transducer bounce off the heart structures and return to the transducer, which then converts them into electrical signals that are processed to create images of the heart.

There are several types of echocardiograms, including:

* Transthoracic echocardiography (TTE): This is the most common type of echocardiogram and involves placing the transducer on the chest.
* Transesophageal echocardiography (TEE): This type of echocardiogram involves passing a specialized transducer through the esophagus to obtain images of the heart from a closer proximity.
* Stress echocardiography: This type of echocardiogram is performed during exercise or medication-induced stress to assess how the heart functions under stress.
* Doppler echocardiography: This type of echocardiogram uses sound waves to measure blood flow and velocity in the heart and blood vessels.

Echocardiography is a valuable tool for diagnosing and managing various heart conditions, as it provides detailed information about the structure and function of the heart. It is generally safe, non-invasive, and painless, making it a popular choice for doctors and patients alike.

Calcinosis is a medical condition characterized by the abnormal deposit of calcium salts in various tissues of the body, commonly under the skin or in the muscles and tendons. These calcium deposits can form hard lumps or nodules that can cause pain, inflammation, and restricted mobility. Calcinosis can occur as a complication of other medical conditions, such as autoimmune disorders, kidney disease, and hypercalcemia (high levels of calcium in the blood). In some cases, the cause of calcinosis may be unknown. Treatment for calcinosis depends on the underlying cause and may include medications to manage calcium levels, physical therapy, and surgical removal of large deposits.

Catheterization is a medical procedure in which a catheter (a flexible tube) is inserted into the body to treat various medical conditions or for diagnostic purposes. The specific definition can vary depending on the area of medicine and the particular procedure being discussed. Here are some common types of catheterization:

1. Urinary catheterization: This involves inserting a catheter through the urethra into the bladder to drain urine. It is often performed to manage urinary retention, monitor urine output in critically ill patients, or assist with surgical procedures.
2. Cardiac catheterization: A procedure where a catheter is inserted into a blood vessel, usually in the groin or arm, and guided to the heart. This allows for various diagnostic tests and treatments, such as measuring pressures within the heart chambers, assessing blood flow, or performing angioplasty and stenting of narrowed coronary arteries.
3. Central venous catheterization: A catheter is inserted into a large vein, typically in the neck, chest, or groin, to administer medications, fluids, or nutrition, or to monitor central venous pressure.
4. Peritoneal dialysis catheterization: A catheter is placed into the abdominal cavity for individuals undergoing peritoneal dialysis, a type of kidney replacement therapy.
5. Neurological catheterization: In some cases, a catheter may be inserted into the cerebrospinal fluid space (lumbar puncture) or the brain's ventricular system (ventriculostomy) to diagnose or treat various neurological conditions.

These are just a few examples of catheterization procedures in medicine. The specific definition and purpose will depend on the medical context and the particular organ or body system involved.

Pathological constriction refers to an abnormal narrowing or tightening of a body passage or organ, which can interfere with the normal flow of blood, air, or other substances through the area. This constriction can occur due to various reasons such as inflammation, scarring, or abnormal growths, and can affect different parts of the body, including blood vessels, airways, intestines, and ureters. Pathological constriction can lead to a range of symptoms and complications depending on its location and severity, and may require medical intervention to correct.

Pyloric stenosis is a condition that results in the narrowing or complete obstruction of the pylorus, which is the opening from the stomach into the small intestine. This narrowing is usually caused by hypertrophy (thickening) of the muscles in the pylorus, making it difficult for food to pass from the stomach into the duodenum.

The most common form of this condition is infantile hypertrophic pyloric stenosis, which typically affects infants between 3-6 weeks of age. In this case, the pyloric muscle becomes abnormally thick and narrows the opening, making it difficult for stomach contents to empty into the small intestine. This can lead to symptoms such as vomiting (often projectile), dehydration, and poor weight gain.

The diagnosis of pyloric stenosis is often made through physical examination, ultrasound, or other imaging studies. Treatment typically involves surgery to correct the narrowed opening, known as a pyloromyotomy. This procedure involves making an incision in the pylorus to relieve the obstruction and allow normal stomach emptying.

In some cases, pyloric stenosis can also occur in adults, although this is much less common than in infants. Adult pyloric stenosis can be caused by various factors, including chronic gastritis, peptic ulcers, or previous surgeries. The symptoms and treatment approach for adult pyloric stenosis may differ from those seen in infants.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Diabetes Mellitus, Type 2 is a metabolic disorder characterized by high blood glucose (or sugar) levels resulting from the body's inability to produce sufficient amounts of insulin or effectively use the insulin it produces. This form of diabetes usually develops gradually over several years and is often associated with older age, obesity, physical inactivity, family history of diabetes, and certain ethnicities.

In Type 2 diabetes, the body's cells become resistant to insulin, meaning they don't respond properly to the hormone. As a result, the pancreas produces more insulin to help glucose enter the cells. Over time, the pancreas can't keep up with the increased demand, leading to high blood glucose levels and diabetes.

Type 2 diabetes is managed through lifestyle modifications such as weight loss, regular exercise, and a healthy diet. Medications, including insulin therapy, may also be necessary to control blood glucose levels and prevent long-term complications associated with the disease, such as heart disease, nerve damage, kidney damage, and vision loss.

Diabetes Mellitus is a chronic metabolic disorder characterized by elevated levels of glucose in the blood (hyperglycemia) due to absolute or relative deficiency in insulin secretion and/or insulin action. There are two main types: Type 1 diabetes, which results from the autoimmune destruction of pancreatic beta cells leading to insulin deficiency, and Type 2 diabetes, which is associated with insulin resistance and relative insulin deficiency.

Type 1 diabetes typically presents in childhood or young adulthood, while Type 2 diabetes tends to occur later in life, often in association with obesity and physical inactivity. Both types of diabetes can lead to long-term complications such as damage to the eyes, kidneys, nerves, and cardiovascular system if left untreated or not well controlled.

The diagnosis of diabetes is usually made based on fasting plasma glucose levels, oral glucose tolerance tests, or hemoglobin A1c (HbA1c) levels. Treatment typically involves lifestyle modifications such as diet and exercise, along with medications to lower blood glucose levels and manage associated conditions.

Diabetes Mellitus, Type 1 is a chronic autoimmune disease characterized by the destruction of insulin-producing beta cells in the pancreas, leading to an absolute deficiency of insulin. This results in an inability to regulate blood glucose levels, causing hyperglycemia (high blood sugar). Type 1 diabetes typically presents in childhood or early adulthood, although it can develop at any age. It is usually managed with regular insulin injections or the use of an insulin pump, along with monitoring of blood glucose levels and adjustments to diet and physical activity. Uncontrolled type 1 diabetes can lead to serious complications such as kidney damage, nerve damage, blindness, and cardiovascular disease.

Lipids are a broad group of organic compounds that are insoluble in water but soluble in nonpolar organic solvents. They include fats, waxes, sterols, fat-soluble vitamins (such as vitamins A, D, E, and K), monoglycerides, diglycerides, triglycerides, and phospholipids. Lipids serve many important functions in the body, including energy storage, acting as structural components of cell membranes, and serving as signaling molecules. High levels of certain lipids, particularly cholesterol and triglycerides, in the blood are associated with an increased risk of cardiovascular disease.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

I'm sorry for any confusion, but "International Cooperation" is not a medical term. It refers to the collaboration and exchange of resources and information between countries or international organizations in various fields, including politics, economics, culture, environment, and security, among others. In the context of healthcare and medicine, international cooperation can involve joint research projects, sharing of data and clinical trial results, collaborative efforts to combat global health issues (such as infectious diseases or chronic conditions), capacity building in low-resource settings, and standardizing medical practices and guidelines across countries.

... extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis Supravalvular aortic stenosis ... Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least ... Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in ... where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have ...
Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis ... "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis". Cell. 73 (1): 159-168. doi: ... and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis ...
... specifically supravalvular aortic stenosis and supravalvular pulmonary stenosis). Elastin insufficiency may also contribute to ... Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are ... as well as supravalvular aortic stenosis. Other symptoms may include gastrointestinal problems, such as severe or prolonged ... who wrote in 1961 of four patients with supravalvular aortic stenosis, mental disability, and facial features including a broad ...
... open-heart surgery at age 13 to correct a severe congenital heart defect involving supravalvular aortic and pulmonic stenosis. ...
The hemizygosity of the elastin is responsible for supravalvular aortic stenosis, the obstruction in the left ventricular ...
It is named for Savannah Thompson, who has Williams syndrome and supravalvular aortic stenosis but has become the ambassador ...
... including mitral and aortic valvular lesions and supravalvular aortic stenosis. The term parachute mitral valve stems from the ... Supravalvular Ring of Left Atrium, Subaortic Stenosis and Coarctation of Aorta". Am J Cardiol. 11 (6): 714-25. doi:10.1016/0002 ... Subaortic stenosis has been observed in both muscular and membranous forms. In either case, a variable degree of obstruction ... In the complete form, four left-sided defects are present: Supravalvular mitral membrane (SVMM) Parachute mitral valve ...
Additionally, estimation of aortic valve area and stenosis may be inaccurate in cases of subvalvular and supravalvular stenosis ... The calculated aortic valve orifice area is currently one of the measures for evaluating the severity of aortic stenosis. A ... "Survival in elderly patients with severe aortic stenosis is dramatically improved by aortic valve replacement: results from a ... There are many ways to calculate the valve area of aortic stenosis. The most commonly used methods involve measurements taken ...
The major clinical sign is fainting (syncope). Heart defects Subvalvular aortic stenosis (Subaortic stenosis; SAS) is a ... supravalvular). The most commonly affected breeds include terriers, Bulldogs, Miniature Schnauzers, Chihuahuas, Samoyeds, ... Pulmonic stenosis* is a congenital heart disease in dogs characterized by right ventricular outflow tract obstruction. Most ... Cauda equina syndrome*, also known as degenerative lumbosacral stenosis, in dogs is a compression of the cauda equina by a ...
... aortic valve stenosis MeSH C14.280.484.150.060 - aortic stenosis, supravalvular MeSH C14.280.484.150.060.960 - williams ... aortic aneurysm, thoracic MeSH C14.907.109.139.175 - aortic rupture MeSH C14.907.109.239 - aortic arch syndromes MeSH C14.907. ... aortic aneurysm, abdominal MeSH C14.907.055.239.125 - aortic aneurysm, thoracic MeSH C14.907.055.239.175 - aortic rupture MeSH ... aortic stenosis, subvalvular MeSH C14.280.484.150.070.160 - cardiomyopathy, hypertrophic MeSH C14.280.484.150.070.210 - ...
supravalvular pulmonary stenosis was commonly observed in the postoperative period. A direct connection of the pulmonary artery ... Long-term predictors of aortic root dilation and aortic regurgitation after arterial switch operation. Circulation. 2004;110: ... In the postoperative period, increased incidence and degree of supravalvular pulmonary stenosis. Eliminating the pericardial ... If the aortic commissure has not yet been marked, it may be done at this point, using the same method as would be used prior to ...
Aortic dissection lentiginosis Aortic supravalvular stenosis Aortic valve stenosis Aortic valves stenosis of the child Aortic ... Aortic aneurysm Aortic arch anomaly peculiar facies mental retardation Aortic arch interruption Aortic arches defect Aortic ... Cogan type Apudoma Aqueductal stenosis Aqueductal stenosis, X linked Arachindonic acid, absence of Arachnodactyly ... Schinzel type Acrocephalopolydactyly Acrocephalosyndactyly Jackson Weiss type Acrocephaly Acrocephaly pulmonary stenosis mental ...
... supravalvular ring of left atrium, subaortic stenosis, and coarctation of aorta". The American Journal of Cardiology. 11: 714- ... A 2004 study finds that children with PMV are 68% likely to have aortic coarctation, 54% likely to have an atrial septal defect ... is a restriction of the inflow of blood to mitral valve annulus and subannulus causing a narrowing known as mitral stenosis ...
... extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis Supravalvular aortic stenosis ... Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least ... Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. Fluorescent in ... where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. Further studies have ...
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. Explore symptoms, inheritance, genetics of ... medlineplus.gov/genetics/condition/supravalvular-aortic-stenosis/ Supravalvular aortic stenosis. ... Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the ... Tassabehji M, Urban Z. Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis. Methods Mol Med. 2006; ...
Issues regarding surgical timing and concomitant pulmonary artery stenosis need to be further ad … ... Residual aortic stenosis was associated with male gender, preoperative aortic valve stenosis, and a preoperative peak gradient ... Surgical strategies and outcomes of congenital supravalvular aortic stenosis J Card Surg. 2017 Oct;32(10):652-658. doi: 10.1111 ... Background: Various surgical techniques have been introduced to treat supravalvular aortic stenosis (SVAS). However, there is ...
Anatomic restoration of the aortic root should ideally take into account all of the deformed components by enlarging all three ... Our data demonstrate that the entire valvular apparatus is always affected by the so-called supravalvular stenosis. ... The aortic root in supravalvular aortic stenosis: the potential surgical relevance of morphologic findings J Thorac Cardiovasc ... Objective: We aimed to elucidate the structural basis of supravalvular aortic stenosis in the context of its surgical repair. ...
Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. ... Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. ... has been studied in cultures of skin fibroblasts derived from 6 cases of the syndrome of supravalvular aortic stenosis, ...
... and anatomy of the aortic valve (see the image below). ... is the preferred imaging test for aortic stenosis. ... Supravalvular stenosis. Supravalvular aortic stenosis is a rare condition that is seen as an element of Williams syndrome, ... Secondary effects of aortic stenosis. After aortic stenosis is defined anatomically, secondary effects may be evaluated. These ... encoded search term (Aortic Stenosis Imaging) and Aortic Stenosis Imaging What to Read Next on Medscape ...
Supravalvar aortic stenosis (SVAS) is a fixed form of congenital left ventricular outflow tract (LVOT) obstruction that occurs ... Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. J Am Coll Cardiol. ... encoded search term (Pediatric Supravalvar Aortic Stenosis) and Pediatric Supravalvar Aortic Stenosis What to Read Next on ... Supravalvular aortic stenosis. J Thorac Cardiovasc Surg. 1965 Nov. 50(5):734-41. [QxMD MEDLINE Link]. ...
Valvular aortic stenosis. *Supravalvular aortic stenosis. *Subaortic stenosis. *Coarctation of the aorta ...
We have screened the elastin gene for mutations responsible for supravalvular aortic stenosis (SVAS) in two large, ...
Categories: Aortic Stenosis, Supravalvular Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, ...
dissection lentiginosis[?] Aortic supravalvular stenosis[?] Aortic valve stenosis Aortic valves stenosis of the child[?] Aortic ...
Surgery may be required for supravalvular aortic stenosis (required in 30% of children with the disorder[9]), mitral valve ... Colleen A. Morris also stated that "individuals with SVAS (supravalvular aortic stenosis) should be evaluated to determine if ... Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental ... Cardiac evaluation - mitral valve prolapse, aortic insufficiency, arterial stenosis and other associated cardiac pathologies ...
Supravalvular aortic stenosis has been produced in foetuses by near-fatal oral doses of vitamin D in pregnant rabbits. There is ...
Faruk A, Ahmet AY, Mehmet E, Fatih U (2013) Valvular and Supravalvular Aortic Stenosis Secondary to Familial Hyperlipidemia. J ...
Early and late outcomes after surgical repair of congenital supravalvular aortic stenosis: A European Congenital Heart Surgeons ... Bailout After Failed Biventricular Management of Critical Aortic Stenosis: Another Application of the Hybrid Approach; Annals ... Biventricular strategies for neonatal critical aortic stenosis: High mortality associated with early reintervention; Journal of ... Vascular matrix remodeling in patients with bicuspid aortic valve malformations: Implications for aortic dilatation; Journal of ...
Idiopathic hypercalcemia and supravalvular aortic stenosis: documentation of a new syndrome. N Engl J Med. 1964;271:117-20. ... Vitamin D and the supravalvular aortic stenosis syndrome. The transplacental effects of vitamin D on the aorta of the rabbit. ... Vitamin D as a cause of the supravalvular aortic stenosis syndrome. Am Heart J. 1967;73:718-20. ... Pathogenesis of the supravalvular aortic stenosis syndrome. J Pediatr. 1967;71:431-41. ...
He was diagnosed with Supravalvular or Supraventricular Aortic Stenosis which is just fancy talk for your Aorta is too small ...
Williams, J. C. P., Barrat-Boyes, B. G. & Lowe, J. B. (1961). Supravalvular aortic stenosis. Circulation, 24, 1311-1318. Tente ...
... while the other was characterized by supravalvular aortic stenosis (narrowing of the ascending aorta above the aortic valve, ...
Adult, Aged, Aortic Stenosis, Supravalvular/diagnosis/epidemiology, Comorbidity, Coronary Angiography, Coronary Artery Disease/ ... supra-aortic arterial disease (SAD) and renal stenosis (RAS) is increasing. Polyvascular atherosclerosis (PVA) coexisting in ... Of the 545 patients with confirmed CAD, 346 (63.5%) had stenoses limited to coronary arteries. 2-, 3- and 4-level PVA was found ... METHODS: Based on angiography, the frequency of coexisting CAD, SAD, PAD and RAS (stenosis , or =50%) was determined in 687 ( ...
Williams Syndrome (Elfin Facies and Supravalvular Aortic Stenosis). Infants with supravalvular aortic stenosis syndrome ( ... Pallor seen in a patient with anemia due to erythrocyte damage from a prosthetic aortic valve. View Media Gallery ... An association of aortic arch interruption is commonly seen with DiGeorge syndrome. Other features include cardiac, parathyroid ... These include mitral valve prolapse and dilatation of the root of the aorta and the sinuses of Valsalva, causing aortic ...
... most commonly supravalvular aortic and/or other vascular stenoses…………… ...
Aortic Stenosis - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical Professional ... Supravalvular AS caused by a discrete congenital membrane or hypoplastic constriction just above the sinuses of Valsalva is ... Pathophysiology of Aortic Stenosis Aortic regurgitation Aortic Regurgitation Aortic regurgitation (AR) is incompetency of the ... Etiology of Aortic Stenosis In older patients, the most common precursor to aortic stenosis is ...
AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE AÓRTICA SUPRAVALVULAR. BALLOON OCCLUSION. OCLUSION CON ... DISCRETE SUBAORTIC STENOSIS. ESTENOSIS SUBAORTICA DISCRETA. ESTENOSE SUBAÓRTICA DISCRETA. DNA, CATALYTIC. ADN CATALITICO. DNA ...
ESTENOSE AÓRTICA SUPRAVALVULAR. AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE SUBAÓRTICA DISCRETA. ...
ESTENOSE AÓRTICA SUPRAVALVULAR. AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE SUBAÓRTICA DISCRETA. ...
AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE AÓRTICA SUPRAVALVULAR. BALLOON OCCLUSION. OCLUSION CON ... DISCRETE SUBAORTIC STENOSIS. ESTENOSIS SUBAORTICA DISCRETA. ESTENOSE SUBAÓRTICA DISCRETA. DNA, CATALYTIC. ADN CATALITICO. DNA ...
Supravalvular aortic stenosis From NCATS Genetic and Rare Diseases Information Center. * Clinical manifestations and molecular ... Atrial septal defects, supravalvular aortic stenosis and syndromes predisposing to aneurysm of large vessels. Baglivo Mirko, et ... Supravalvular Aortic Stenosis and the Risk of Premature Death among Patients with Homozygous Familial Hypercholesterolemia. ... Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century. Bélanger Alexandre M et al. ...
ESTENOSE AÓRTICA SUPRAVALVULAR. AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE SUBAÓRTICA DISCRETA. ...
ESTENOSE AÓRTICA SUPRAVALVULAR. AORTIC STENOSIS, SUPRAVALVULAR ESTENOSIS AORTICA SUPRAVALVULAR. ESTENOSE SUBAÓRTICA DISCRETA. ...
  • Further studies have shown that patients with less extensive deletions featuring the Elastin gene also tend to develop supravalvular aortic stenosis Supravalvular aortic stenosis is due to diffuse or discrete narrowing of ascending aorta. (wikipedia.org)
  • One presentation was characterized by hypercalcemia plus persistent growth failure, characteristic facial appearance, "mental retardation," heart murmur, and hypertension, while the other was characterized by supravalvular aortic stenosis (narrowing of the ascending aorta above the aortic valve, involving the sinotubular junction) plus a distinctive facial appearance, "mental retardation," "friendly" personality, and growth retardation. (williams-syndrome.org)
  • Aortic stenosis (AS) is narrowing of the aortic valve, obstructing blood flow from the left ventricle to the ascending aorta during systole. (msdmanuals.com)
  • Narrowing in ascending aorta or fibrous diaphragm just above aortic valve). (rimikri.com)
  • Background The treatment of dilatation of the ascending aorta associated with aortic valve disease is still controversial. (heartviews.org)
  • Replacement of ascending aorta and aortic valve with a composite conduit may be too radical an approach, especially in patients with moderate dilatation. (heartviews.org)
  • To repair a dilated ascending aorta with associated aortic valve disease, we devised a technique of aortoplasty. (heartviews.org)
  • Contraindications to aortoplasty were: Marfan's disease, bicuspid aortic valve, calcification of ascending aortic wall, aortic dissection, and fusiform aneurysm without aortic valve disease.The aortic valve was replaced with a bileaflet valve and the ascending aorta was repaired with "waistcoat" technique. (heartviews.org)
  • Conclusion Plastic reconstruction of dilated ascending aorta with reduction of its diameter and aortic valve replacement can reduce wall stress and the incidence of late aneurysm formation or aortic dissection. (heartviews.org)
  • Surgical repair of congenital supravalvular aortic stenosis in children. (medscape.com)
  • Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. (medlineplus.gov)
  • Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs ( the pulmonary artery ). (medlineplus.gov)
  • If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure. (medlineplus.gov)
  • Aortic narrowing causes the heart to work harder to pump blood through the aorta, resulting in the signs and symptoms of SVAS. (medlineplus.gov)
  • Various surgical techniques have been introduced to treat supravalvular aortic stenosis (SVAS). (nih.gov)
  • The most significant medical problem associated with Williams syndrome is a form of heart disease called supravalvular aortic stenosis (SVAS). (rareguru.com)
  • Supravalvar aortic stenosis (SVAS) is the most common heart abnormality, occurring in 75% of people with WS. (rareguru.com)
  • The murmur associated with it is systolic murmur and is similar in character to valvular aortic stenosis murmur but commonly present at 1st Intercostal space (ICS) on the right. (wikipedia.org)
  • There is a continuous left-to-right shunt of blood throughout systole and diastole, giving the characteristic waxing and waning continuous murmur, as aortic pressures exceed pulmonary artery pressures throughout the cardiac cycle. (bsavalibrary.com)
  • Parents are cautioned to keep their muscles and the mitral rim is seen at the back through the av interval measured during spectral doppler for detection of isolated aortic regurgitation. (lowerbricktown.com)
  • The aortic valve is located between the ventricular septum and the mitral valve. (medscape.com)
  • Supravalvular aortic stenosis is a congenital obstructive narrowing of the aorta just above the aortic valve and is the least common type of aortic stenosis. (wikipedia.org)
  • Vindhyal MR, Priyadarshni S, Eid F. Supravalvar aortic stenosis. (medscape.com)
  • Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. (medscape.com)
  • Usefulness of doppler echocardiography to determine the timing of surgery for supravalvar aortic stenosis. (medscape.com)
  • Extended single-patch repair of supravalvar aortic stenosis: a simple and effective technique. (medscape.com)
  • Changes in dimensions of the aortic root were demonstrated more clearly by angiography than by echocardiography. (nih.gov)
  • According to the American College of Radiology (ACR) in its appropriateness criteria for preintervention planning for transcatheter aortic valve displacement (TAVR), preintervention imaging with echocardiography and CT are essential for procedure planning and device selection, with MR angiography playing a complementary role. (medscape.com)
  • Echocardiography is the preferred imaging test for aortic stenosis. (medscape.com)
  • Aortic stenosis is seen on 2-dimensional echocardiography. (medscape.com)
  • Main coronary artery and coronary ostial stenosis in children: detection by transthoracic color flow and pulsed Doppler echocardiography. (medscape.com)
  • Calcification of the aortic valve is found in almost all adults with hemodynamically significant aortic stenosis. (medscape.com)
  • Lipid deposition and inflammation lead to thickening of aortic valve structures by fibrosis and calcification initially without causing significant obstruction. (msdmanuals.com)
  • It is a degenerative condition in which there is thickening and/or calcification of leaflets of aortic valve. (rimikri.com)
  • There are some risk factor like hyperlipidemia, diabetes mellitus, smoking, hypertension are prone to develop aortic calcification. (rimikri.com)
  • Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. (wikipedia.org)
  • The incidence of cytoplasmic metachromasia has been studied in cultures of skin fibroblasts derived from 6 cases of the syndrome of supravalvular aortic stenosis, characteristic facies, and mental retardation which in many instances represents the late normocalcaemic stage of the severe form of infantile hypercalcaemia. (bmj.com)
  • associated lesions included subAS (n=9), supravalvular AS (n=2), coarctation (n=5), and interrupted aortic arch (n=2). (elsevierpure.com)
  • Issues regarding surgical timing and concomitant pulmonary artery stenosis need to be further addressed. (nih.gov)
  • Wren C, Oslizlok P, Bull C. Natural history of supravalvular aortic stenosis and pulmonary artery stenosis. (medscape.com)
  • Bicuspid aortic valve is the most common congenital cardiovascular abnormality. (msdmanuals.com)
  • Aortic Dissection Aortic dissection is the surging of blood through a tear in the aortic intima with separation of the intima and media and creation of a false lumen (channel). (msdmanuals.com)
  • Bacterial endocarditis in patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect. (medscape.com)
  • Individuals with significant supravalvular AS chronically may develop left ventricular hypertrophy and also are at risk of developing coronary artery stenosis. (wikipedia.org)
  • Coarctation of the Aorta Coarctation of the aorta is a localized narrowing of the aortic lumen that results in upper-extremity hypertension, left ventricular hypertrophy, and, if severe, malperfusion of the abdominal. (msdmanuals.com)
  • An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect. (medscape.com)
  • Supravalvular aortic stenosis coarse, elfin-like facies with prominent bulbar palsies and clear center or your doctor. (albionfoundation.org)
  • The antegrade systolic velocity across the narrowed aortic valve, or aortic jet velocity, is measured using continuous-wave Doppler ultrasound. (medscape.com)
  • Doppler interrogation of the aortic valve makes use of the modified Bernoulli equation (gradient = 4 × velocity 2 ) to assess the severity of the stenosis. (medscape.com)
  • Peripheral pulmonic stenosis is common in infancy. (rareguru.com)
  • Seven of them had aortic regurgitation, 3 aortic stenosis, 1 postendocarditic periprosthetic leak, and 1 calcified bioprosthesis. (heartviews.org)
  • She was subsequently referred to thoracic surgery for evaluation of superior vena cava stenosis. (ctsnet.org)
  • [ 2 ] In symptomatic patients with medically treated moderate to severe aortic stenosis, death usually occurs within 5 years. (medscape.com)
  • The diagnosis of severe AS is currently based on 3 hemodynamic parameters: maximal jet velocity, mean pressure gradient across the aortic valve, and aortic valve area. (medscape.com)
  • All the four patients presented with effort angina and all were found to have obstructive coronary artery disease oncoronary angiogram and two of them had severe supravalvular aortic stenosis. (ijmedicine.com)
  • Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (medscape.com)
  • [1] J.C.P. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it "may constitute a previously unrecognized syndrome" [1] . (physio-pedia.com)
  • She had supravalvular aortic stenosis-a life-threatening heart problem often associated with Williams Syndrome. (legacyhealth.org)
  • Background - The Ross procedure is commonly used to treat aortic valve disease in pediatric and adult patients. (elsevierpure.com)
  • Surgical management of congenital obstruction of the left main coronary artery with supravalvular aortic stenosis. (medscape.com)
  • In line with the ageing population, the prevalence of coronary artery disease (CAD), lower extremity peripheral arterial disease (PAD), supra-aortic arterial disease (SAD) and renal stenosis (RAS) is increasing. (who.int)
  • Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. (medscape.com)
  • Over years, aortic sclerosis progresses to stenosis in as many as 15% of patients. (msdmanuals.com)
  • Tong Y, Zhang P, Li S, Yan J, Feng Z, Zhao J, Guo S, Jin Y, Liu J. Perioperative blood product transfusion of two different perfusion strategies on pediatric patients undergoing aortic arch surgery. (ispmcs.org)
  • Most patients develop PCAD and aortic stenosis before the age of 20 years and die before 30 years of age. (ijmedicine.com)
  • Methods and Results Between July 1996 and July 1998, 12 patients underwent aortic valve replacement and ascending aortoplasty. (heartviews.org)
  • The cause of aortic sclerosis and stenosis is not yet known but is mediated by an inflammatory process that is similar to but distinct from atherosclerosis. (msdmanuals.com)
  • Lipoprotein (a) is implicated in the pathogenesis of both aortic stenosis and atherosclerosis. (msdmanuals.com)
  • are at increased risk for atherosclerosis, and more recently, psoriasis has been tied to an increased risk of aortic stenosis. (msdmanuals.com)
  • Supravalvular AS caused by a discrete congenital membrane or hypoplastic constriction just above the sinuses of Valsalva is uncommon. (msdmanuals.com)
  • Rarely, supravalvular (Constriction at the first part of aorta. (rimikri.com)
  • Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. (wikipedia.org)
  • 1993). "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis" . (wikipedia.org)
  • Aortic stenosis (AS) is the obstruction of blood flow across the aortic valve. (medscape.com)
  • abstract: BACKGROUND:EVAR for abdominal aortic aneurysm has an initial survival advantage over OR, but more frequent complications increase costs and long-term aneurysm-related mortality. (shengsci.com)
  • Chest radiographs may show several significant findings consistent with aortic stenosis. (medscape.com)
  • What are the X-ray findings of aortic stenosis? (rimikri.com)
  • What are the ECG findings of aortic stenosis? (rimikri.com)
  • What are the echocardiogram findings of aortic stenosis? (rimikri.com)
  • Anatomic restoration of the aortic root should ideally take into account all of the deformed components by enlarging all three sinuses of Valsalva at the sinotubular junction. (nih.gov)
  • Postoperative echocardiographic study showed a significant reduction of both sinotubular and ascending aortic diameters. (heartviews.org)
  • We aimed to elucidate the structural basis of supravalvular aortic stenosis in the context of its surgical repair. (nih.gov)
  • Akkaya G, Bilen C, Tuncer ON, Atay Y. Requirement for repetitive surgical approaches at supravalvular aortic stenosis. (medscape.com)
  • Imaging of the aortic valve is critical in establishing a diagnosis, grading severity, and informing the timing of valvular intervention. (medscape.com)
  • How will you classify the severity of aortic stenosis? (rimikri.com)
  • What are the indications of coronary angiography in aortic stenosis? (rimikri.com)
  • What are the indications of aortic valve replacement? (rimikri.com)
  • Indications for aortoplasty were: echocardiographic aortic diameter between 5 and 6 cm and macroscopic appearance of normal aortic wall. (heartviews.org)
  • Pola dos Reis F, Minamoto H, Bibas BJ, Minamoto FEN, Cardoso PFG, Caneo LF, Pego-Fernandes PM. Treatment of tracheal stenosis with extracorporeal membrane oxygenation support in infants and newborns. (ispmcs.org)
  • Supravalvular aortic stenosis-infantile hypercalcaemia syndrome: in vitro hypersensitivity to vitamin D2 and calcium. (bmj.com)
  • Heyde's syndrome is the association between aortic stenosis and occult gastrointestinal bleeding usually from colonic angiodysplasia. (rimikri.com)
  • Marfan syndrome, supravalvular aortic stenosis, and Ehlers-Danlos syndrome type IV result from mutations of genes encoding fibrillin-1, elastin, and type III collagen, respectively. (heartviews.org)
  • 3. From the Left Ventricle, the blood passes through the Aortic Valve to the Aorta. (hemopet.org)
  • [ 1 ] Symptoms of aortic stenosis usually develop gradually after an asymptomatic latent period of 10-20 years. (medscape.com)
  • Residual aortic stenosis was associated with male gender, preoperative aortic valve stenosis, and a preoperative peak gradient greater than 90 mmHg. (nih.gov)