Abnormal thoracoabdominal VISCERA arrangement (visceral heterotaxy) or malformation that involves additional CONGENITAL HEART DEFECTS (e.g., heart isomerism; DEXTROCARDIA) and/or abnormal SPLEEN (e.g., asplenia and polysplenia). Irregularities with the central nervous system, the skeleton and urinary tract are often associated with the syndrome.
A congenital abnormality in which organs in the THORAX and the ABDOMEN are opposite to their normal positions (situs solitus) due to lateral transposition. Normally the STOMACH and SPLEEN are on the left, LIVER on the right, the three-lobed right lung is on the right, and the two-lobed left lung on the left. Situs inversus has a familial pattern and has been associated with a number of genes related to microtubule-associated proteins.
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs.
A characteristic symptom complex.
A cardiovascular procedure performed to create a blood supply to the PULMONARY CIRCULATION. It involves making a connection between the subclavian, or carotid branch of the AORTA, or the AORTIC ARCH to the PULMONARY ARTERY.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Congenital structural abnormalities of the respiratory system.
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
An encapsulated lymphatic organ through which venous blood filters.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Dyneins that are responsible for ciliary and flagellar beating.

Cardiopulmonary manifestations of portovenous shunts from congenital absence of the portal vein: pulmonary hypertension and pulmonary vascular dilatation. (1/39)

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A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. (2/39)

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Two-stent telescoping technique for securing an atrially embolized venous stent. (3/39)

Coronary sinus stenosis or atresia is a rare problem in congenital heart disease. It is sometimes associated with ventricular dysfunction. In this setting, relief of the obstruction may improve myocardial perfusion and contractility. During percutaneous stent deployment within the coronary sinus, distal embolization of the stent into the atrial chambers occurred. The patient had double inlet left ventricle, severe ventricular dysfunction, interrupted IVC, mechanical aortic valve, and a Fontan circulation. The intervention was performed as a rescue procedure prior to transplantation referral. In this report we describe use of telescoping technique, i.e., deploying the distal end of a long stent within the embolized stent while traversing its proximal end across the stenosed coronary sinus ostium. This secured the embolized stent and at the same time relieved the coronary sinus stenosis.  (+info)

Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy. (4/39)

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Experience with bidirectional cavopulmonary anastomosis and modified Fontan operation in patients with single ventricle and concomitant visceral heterotaxy. (5/39)

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Prenatal echocardiographic diagnosis of cardiac right/left axis and malpositions according to standardized Cordes technique. (6/39)

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Role of four-dimensional ultrasound (spatiotemporal image correlation and sonography-based automated volume count) in prenatal assessment of atrial morphology in cardiosplenic syndromes. (7/39)

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Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease. (8/39)

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Heterotaxy syndrome is a rare and complex congenital disorder characterized by the abnormal lateralization or arrangement of internal organs in the chest and abdomen. In this condition, the normal left-right (LR) asymmetry of the thoracic and abdominal organs is disrupted, resulting in either complete or partial reversal of the usual LR orientation. The term "heterotaxy" literally means "different arrangement."

Heterotaxy syndrome can be further classified into two main types:

1. **Ivemark's syndrome** (or left atrial isomerism): In this type, there is a mirror-image reversal of the normal LR organization of the thoracic and abdominal organs. This results in both sides of the body having structures that are typically found on the left side (left atrial isomerism). Common features include:
* Complete heart block or complex congenital heart defects, such as transposition of the great arteries, double outlet right ventricle, and total anomalous pulmonary venous return.
* Bilateral bilobed lungs with a central location of the liver (situs ambiguus).
* Bronchial malformations, including bilateral eparterial bronchi.
* Gastrointestinal tract abnormalities, such as intestinal malrotation and biliary atresia.
* Increased incidence of situs inversus totalis (complete mirror-image reversal of the normal LR arrangement).

2. **Right atrial isomerism** (or asplenia syndrome): In this type, there is a lack of normal LR organization, and both sides of the body have structures that are typically found on the right side (right atrial isomerism). Common features include:
* Complex congenital heart defects, such as single ventricle, double outlet right ventricle, pulmonary stenosis or atresia, and total anomalous pulmonary venous return.
* Absent or multiple spleens (polysplenia) with varying degrees of functional asplenia.
* Bilateral trilobed lungs with a right-sided location of the liver (situs ambiguus).
* Bronchial malformations, including bilateral hyperarterial bronchi.
* Gastrointestinal tract abnormalities, such as intestinal malrotation and biliary atresia.
* Increased incidence of congenital diaphragmatic hernia.

Both situs ambiguus and heterotaxy syndrome are associated with increased morbidity and mortality due to the complex congenital heart defects, gastrointestinal tract abnormalities, and immunological dysfunction in cases of asplenia or hyposplenia. Early diagnosis and management by a multidisciplinary team are crucial for improving outcomes in these patients.

Situs Inversus is a congenital condition in which the major visceral organs are situated in mirror-image positions to their normal locations. Instead of being on the left side, the heart and its large blood vessels are on the right side, while the liver is on the left side and the lungs are reversed. The stomach, spleen, and pancreas may also be affected. It's important to note that this condition is generally asymptomatic and often goes unnoticed unless there are complications or associated abnormalities.

There are two types of Situs Inversus: total (complete reversal of all organs) and partial (reversal of only some organs). Total Situs Inversus is also sometimes referred to as "mirror-image dextrocardia" because the heart, which is usually on the left side, is located on the right side in a mirrored position.

While Situs Inversus itself does not typically cause health problems, people with this condition may have an increased risk for certain medical conditions, such as congenital heart defects or primary ciliary dyskinesia (PCD), which can lead to chronic respiratory infections and infertility.

Cardiovascular abnormalities refer to structural or functional anomalies in the heart or blood vessels. These abnormalities can be present at birth (congenital) or acquired later in life. They can affect the heart's chambers, valves, walls, or blood vessels, leading to various complications such as heart failure, stroke, or even death if left untreated.

Examples of congenital cardiovascular abnormalities include:

1. Septal defects - holes in the walls separating the heart's chambers (atrial septal defect, ventricular septal defect)
2. Valvular stenosis or insufficiency - narrowing or leakage of the heart valves
3. Patent ductus arteriosus - a persistent opening between the aorta and pulmonary artery
4. Coarctation of the aorta - narrowing of the aorta
5. Tetralogy of Fallot - a combination of four heart defects, including ventricular septal defect, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy

Examples of acquired cardiovascular abnormalities include:

1. Atherosclerosis - the buildup of plaque in the arteries, leading to narrowing or blockage
2. Cardiomyopathy - disease of the heart muscle, causing it to become enlarged, thickened, or stiffened
3. Hypertension - high blood pressure, which can damage the heart and blood vessels over time
4. Myocardial infarction (heart attack) - damage to the heart muscle due to blocked blood supply
5. Infective endocarditis - infection of the inner lining of the heart chambers and valves

These abnormalities can be diagnosed through various tests, such as echocardiography, electrocardiogram (ECG), stress testing, cardiac catheterization, or magnetic resonance imaging (MRI). Treatment options depend on the type and severity of the abnormality and may include medications, medical procedures, or surgery.

Dextrocardia is a medical condition in which the heart is positioned on the right side of the chest instead of the left side. This is a congenital condition, meaning it is present at birth. In people with dextrocardia, the heart's structure and function are usually normal, but the orientation of the heart within the chest is reversed.

There are two main types of dextrocardia:

1. Dextrocardia without visceral situs inversus: In this type, the heart is on the right side of the chest, but the other organs in the chest and abdomen are in their normal positions. This is a rare condition and can be associated with other congenital heart defects.
2. Dextrocardia with visceral situs inversus: In this type, the heart is on the right side of the chest, and the other organs in the chest and abdomen are mirrored or reversed from their normal positions. This is a less common form of dextrocardia and is often referred to as "situs inversus totalis."

It's important to note that while dextrocardia itself is not a life-threatening condition, people with this condition may have other heart defects or medical issues that require treatment. If you or someone you know has been diagnosed with dextrocardia, it's essential to consult with a healthcare professional for proper evaluation and management.

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.

The Blalock-Taussig (BT) procedure is a type of open-heart surgery used to treat cyanotic heart diseases in infants and children. It is primarily used as a palliative treatment for Tetralogy of Fallot, Truncus Arteriosus, and other complex congenital heart defects.

In this procedure, a connection is created between the subclavian artery (a major artery that branches off from the aorta) and the pulmonary artery (the blood vessel that carries oxygen-depleted blood from the heart to the lungs). This connection helps increase the amount of oxygen-rich blood flowing to the lungs, which in turn improves the oxygen saturation levels in the body.

The Blalock-Taussig procedure is typically performed as a temporary measure until a more definitive surgical repair can be carried out, usually when the child is older and has grown larger. The connection created during the BT procedure may be maintained using a synthetic tube (shunt) or by directly sewing the subclavian artery to the pulmonary artery.

The Blalock-Taussig procedure was first performed in 1945 by Drs. Alfred Blalock and Helen Taussig at Johns Hopkins Hospital, and it has since become a standard surgical technique for treating cyanotic heart diseases in infants and children.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.

Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.

There are many different types of congenital heart defects, including:

1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.

The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.

Respiratory system abnormalities refer to any conditions or structures that do not function properly or are outside the normal range in the respiratory system. The respiratory system is responsible for taking in oxygen and expelling carbon dioxide through the process of breathing. It includes the nose, throat (pharynx), voice box (larynx), windpipe (trachea), bronchi, bronchioles, alveoli, and muscles and nerves that support breathing.

Respiratory system abnormalities can be congenital or acquired. Congenital abnormalities are present at birth and may include conditions such as cystic fibrosis, pulmonary hypoplasia, and congenital diaphragmatic hernia. Acquired abnormalities can develop at any time throughout a person's life due to various factors such as infections, injuries, environmental exposures, or aging. Examples of acquired respiratory system abnormalities include chronic obstructive pulmonary disease (COPD), asthma, pneumonia, lung cancer, and sleep apnea.

Respiratory system abnormalities can cause a range of symptoms, including coughing, wheezing, shortness of breath, chest pain, and fatigue. Treatment for respiratory system abnormalities depends on the specific condition and severity and may include medications, breathing treatments, surgery, or lifestyle changes.

Ciliary motility disorders are a group of rare genetic conditions that affect the function of cilia, which are tiny hair-like structures on the surface of cells in the body. Cilia play an important role in moving fluids and particles across the cell surface, including the movement of mucus and other substances in the respiratory system, the movement of eggs and sperm in the reproductive system, and the movement of fluid in the inner ear.

Ciliary motility disorders are caused by mutations in genes that are responsible for the proper functioning of cilia. These mutations can lead to abnormalities in the structure or function of cilia, which can result in a range of symptoms depending on the specific disorder and the parts of the body that are affected.

Some common symptoms of ciliary motility disorders include recurrent respiratory infections, chronic sinusitis, hearing loss, infertility, and situs inversus, a condition in which the major organs are reversed or mirrored from their normal positions. There are several different types of ciliary motility disorders, including primary ciliary dyskinesia, Kartagener syndrome, and immotile cilia syndrome.

Treatment for ciliary motility disorders typically involves addressing the specific symptoms and underlying causes of the disorder. This may include antibiotics to treat respiratory infections, surgery to correct structural abnormalities, or assisted reproductive technologies to help with infertility.

The spleen is an organ in the upper left side of the abdomen, next to the stomach and behind the ribs. It plays multiple supporting roles in the body:

1. It fights infection by acting as a filter for the blood. Old red blood cells are recycled in the spleen, and platelets and white blood cells are stored there.
2. The spleen also helps to control the amount of blood in the body by removing excess red blood cells and storing platelets.
3. It has an important role in immune function, producing antibodies and removing microorganisms and damaged red blood cells from the bloodstream.

The spleen can be removed without causing any significant problems, as other organs take over its functions. This is known as a splenectomy and may be necessary if the spleen is damaged or diseased.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Axonemal dyneins are motor proteins that are located in the axoneme of eukaryotic cilia and flagella. The axoneme is the internal structure of these cellular appendages, and it is composed of nine microtubule doublets arranged in a ring around two central single microtubules.

Dyneins are large protein complexes that use the energy from ATP hydrolysis to move along microtubules, generating force and motion. Axonemal dyneins are responsible for the sliding of the microtubule doublets relative to each other, which leads to the bending and movement of cilia and flagella.

There are several types of axonemal dyneins, classified based on their structure and function. The outer dynein arms are larger complexes that generate the power stroke for ciliary beating, while the inner dynein arms are smaller complexes involved in regulating the beat pattern and frequency.

Defects in axonemal dyneins can lead to a variety of genetic disorders known as ciliopathies, which affect the structure and function of cilia and flagella. These disorders can cause a range of symptoms, including respiratory problems, infertility, and developmental abnormalities.

... a combination of findings is known as Kartagener syndrome), and situs ambiguus (also known as Heterotaxy syndrome). These left- ... Alström syndrome, Meckel-Gruber syndrome, Sensenbrenner syndrome and some forms of retinal degeneration. Genetic mutations ... Worsley, Calum; Weerakkody, Yuranga (1 November 2009). "Heterotaxy syndrome". Radiopaedia.org. doi:10.53347/rID-7420. Retrieved ... Inherited defects in components of the transition zone cause ciliopathies, such as Joubert syndrome. Transition zone structure ...
Chirality (mathematics) Ivemark syndrome Situs inversus Situs solitus "heterotaxy syndrome". United States National Library of ... Heterotaxy syndrome with atrial isomerism occurs in 1 out of every 10,000 live births and is associated with approximately 3% ... Individuals of Asian descent show a higher prevalence of heterotaxy syndrome in general than members of the Western world. The ... Recent studies have shown higher rates of heterotaxy syndrome among Hispanic infants of Mexican descent, as well as female ...
"Heterotaxy syndrome". Radiopaedia. Retrieved 20 October 2017. Knapton, Sarah (21 October 2016). "Meet Jeremy the lonely snail ...
HPS6 Hermansky-Pudlak syndrome 7; 203300; DTNBP1 Hermansky-Pudlak syndrome 8; 203300; BLOC1S3 Heterotaxy, visceral, 1, S-linke ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
"Duplication and deletion of CFC1 associated with heterotaxy syndrome". DNA Cell Biol. 34 (2): 101-6. doi:10.1089/dna.2014.2616 ... Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital ... "CFC1 gene involvement in biliary atresia with polysplenia syndrome". J. Pediatr. Gastroenterol. Nutr. 46 (1): 111-2. doi: ...
The cause of heterotaxy is unknown. The Ivemark Syndrome Association, which is based in Dorset, is one of the organisations ... is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen ... "Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome)". Birth Defects Research Part A ... "Ivemark Syndrome". National Organization for Rare Diseases. Archived from the original on 28 May 2009. Retrieved 2009-05-24. "' ...
Van Praagh, Richard; Van Praagh, Stella (1990). "Atrial isomerism in the heterotaxy syndromes with asplenia, or polysplenia, or ... Specific examples include Truncus Arteriosus, sinus venosus atrial septal defect, and heterotaxy syndrome. Society for ...
There are two distinct types of genetic disorders: heterotaxy syndrome and isolated congenital asplenia. polysplenia Acquired ...
These conditions considered together are called "polysplenia syndrome". Associated conditions include heterotaxy syndrome, ... "polysplenia" at Dorland's Medical Dictionary "polysplenia syndrome" at Dorland's Medical Dictionary Goldman, Lee (2011). ...
Unlike heterotaxy syndrome, the absent spleen (asplenia) is not associated with other structural developmental defects. In some ...
It is frequently associated with heterotaxy syndrome. The interatrial septum can be divided into five septal zones. If the ... Fetal alcohol syndrome - about one in four patients with fetal alcohol syndrome has either an ASD or a ventricular septal ... Holt-Oram syndrome - both the osteium secundum and osteum primum types of ASD are associated with Holt-Oram syndrome ... Down syndrome - patients with Down syndrome have higher rates of ASDs, especially a particular type that involves the ...
The role of DNAH5 in heterotaxy syndromes and left-right asymmetry is also under investigation. At least 50 genes have been ... The disorder is rarely referred to as Siewert's syndrome or Siewert-Kartagener syndrome. "DNAI1 - Dynein axonemal intermediate ... The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely ... Trials have also shown that there is a marked reduction in fertility in females with Kartagener's syndrome due to dysfunction ...
This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes. 45% ... AVCD is also linked with Noonan syndrome. The pattern seen in those patients with Noonan syndrome differ from those patients ... such as DiGeorge syndrome. The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major ... Down syndrome is often associated with AVCD. Other risk factors include: having a parent with a congenital heart defect, ...
If this process does not occur correctly in humans it can result in the syndromes heterotaxy or situs inversus. LR asymmetry is ...
... is an American female golfer who suffers from a heart defect known as heterotaxy syndrome as a result of being born with only ...
... described by Carlo Marceletti and Francisco Puga for Heterotaxy Syndrome) The Fontan procedure is the third procedure in the ... hypoplastic left heart syndrome or hypoplastic right heart syndrome), or a complex congenital heart disease where a bi- ... Whereas in hypoplastic left heart syndrome, the heart is more reliant on the more functional right ventricle to provide blood ... Ohye, Richard G.; Schranz, Dietmar; D'Udekem, Yves (2016-10-25). "Current Therapy for Hypoplastic Left Heart Syndrome and ...
Hypoplastic left heart syndrome Double inlet right ventricle Double outlet right ventricle Single ventricle heterotaxy syndrome ...
... disease Hersh-Podruch-Weisskopk syndrome Heterophobia Heterotaxia (generic term) Heterotaxia autosomal dominant type Heterotaxy ... Mcdonald syndrome Hunter-Jurenka-Thompson syndrome Hunter-Macpherson syndrome Hunter-Mcalpine syndrome Hunter-Mcdonald syndrome ... child Heavy metal poisoning HEC syndrome Hecht-Scott syndrome Heckenlively syndrome Heide syndrome Heliophobia HELLP syndrome ... Houlston-Ironton-Temple syndrome Howard-Young syndrome Howel-Evans syndrome Hoyeraal-Hreidarsson syndrome Hoyeraal syndrome HSV ...
Mutations in DNAH11 are also associated with Kartagener syndrome (PCD with situs inversus totalis, a congenital condition with ... and PCD individuals have increased rates of heterotaxy and situs inversus in approximately 50% of reported cases, a congenital ... In females with PCD or Kartagener's syndrome, there are increased reports of subfertility and risk of ectopic pregnancy. ... immotile cilia syndrome', and results from abnormally motile or static cilia within the respiratory tract. PCD is characterized ...
Visit Carpenter syndrome for more extensive details related to the disease. Genetic mutations in MEGF8 have been found to be a ... "Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy". Proceedings of the ... However, three SNP mutations were identified as causes of Carpenter Syndrome 2 by Twigg et al. The three SNP mutations are: ... Currently, researchers have found MEGF8 SNP mutations to be the cause of Carpenter syndrome subtype 2. A fairly highly ...
For example, mutation of ZIC3 is associated with heterotaxy, that is thought to occur due to the role of ZIC3 in initial left- ... May 2002). "A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice". ... "Entrez Gene: ZIC3 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila)". Ware SM, Peng J, Zhu L, Fernbach S, ... Ware SM, Harutyunyan KG, Belmont JW (June 2006). "Heart defects in X-linked heterotaxy: evidence for a genetic interaction of ...
"Entry - #619702 - HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12 - OMIM". www.omim.org. Retrieved 2023-09-16. Szenker-Ravi, ... C2orf69 In 2021, together with I. Kurth and colleagues, his team identified a fatal syndrome caused by the homozygous ... 2016-02-04). "De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental ... Goldwert, Lindsay (2012-05-15). "Rare Hamamy syndrome offers genetic insight into what causes heart disease, blood disorders". ...
Kartagener syndrome can also manifest with male infertility as functional cilia are required for proper sperm flagella function ... In rarer cases such as situs ambiguus or heterotaxy, situs cannot be determined. In these patients, the liver may be midline, ... If they do, they are said to have Kartagener syndrome, characterized by the triad of situs inversus, chronic sinusitis, and ... "Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome ...
... including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac ... heterotaxy, and atrioventricular septal defects. Congenital heart defects are known by a number of names including congenital ... A number of genetic conditions are associated with heart defects, including Down syndrome, Turner syndrome, and Marfan syndrome ... It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome ...
... heterotaxy); the word heterotaxy is derived from the Greek heteros, meaning ... encoded search term (Heterotaxy Syndrome and Primary Ciliary Dyskinesia) and Heterotaxy Syndrome and Primary Ciliary Dyskinesia ... Heterotaxy Syndrome and Primary Ciliary Dyskinesia * 2003/viewarticle/hepatorenal-syndrome-case-based-discussion-evidence-based ... Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Updated: Apr 10, 2017 * Author: Alvin J Chin, MD; Chief Editor: Stuart ...
An incidental note was made of multiple features of left sided heterotaxy syndrome - multiple aberrant nodules of splenic ... This prompted review of previous imaging to identify further features of left sided heterotaxy syndrome. ... "left-sided-heterotaxy-syndrome-polysplenia","modality":"CT","series":[{"id":55002515,"content_type":"image/png","frames":[{"id ... "left-sided-heterotaxy-syndrome-polysplenia","modality":"CT","series":[{"id":54998233,"content_type":"image/jpeg","frames":[{"id ...
Mother fights hard for baby with Heterotaxy Syndrome. The baby lives with half a functioning liver and heart. Read their ... Heterotaxy Syndrome is a rare birth defect that involves the heart and other organs. Hetero means different and taxy means ... Her baby girl was born with Heterotaxy Syndrome (HS), with: half a functioning heart and a midline liver instead of on the ... Institute Jantung Negara (IJN) confirmed Ariana has Heterotaxy Syndrome - Right Atrial Isomerism with severe mutiple heart ...
Tagged: biventricular repair, cardiac surgery, heart, heart center, heart patient, heterotaxy syndrome ...
... heterotaxy); the word heterotaxy is derived from the Greek heteros, meaning ... encoded search term (Heterotaxy Syndrome and Primary Ciliary Dyskinesia) and Heterotaxy Syndrome and Primary Ciliary Dyskinesia ... Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Updated: May 09, 2014 * Author: Alvin J Chin, MD; Chief Editor: Stuart ... The true prevalence of heterotaxy syndrome is unknown because many patients, especially those with left atrial appendage ...
More About Heterotaxy Syndrome. A rare birth defect, heterotaxy syndrome (isomerism) usually involves heart defects of varying ... Amber was diagnosed with heterotaxy syndrome and double outlet right ventricle (DORV) with pulmonary atresia soon after she was ...
... a combination of findings is known as Kartagener syndrome), and situs ambiguus (also known as Heterotaxy syndrome). These left- ... Alström syndrome, Meckel-Gruber syndrome, Sensenbrenner syndrome and some forms of retinal degeneration. Genetic mutations ... Worsley, Calum; Weerakkody, Yuranga (1 November 2009). "Heterotaxy syndrome". Radiopaedia.org. doi:10.53347/rID-7420. Retrieved ... Inherited defects in components of the transition zone cause ciliopathies, such as Joubert syndrome. Transition zone structure ...
Left isomerism, see Heterotaxy syndrome. *Left ventricular hypertrabeculation, see Left ventricular noncompaction ... Lip pseudocleft-hemagiomatous branchial cyst syndrome, see Branchio-oculo-facial syndrome. *Lip-pit syndrome, see Van der Woude ... Long QT syndrome with syndactyly, see Timothy syndrome. *Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency, see Long-chain ... Langer-Giedion syndrome, see Trichorhinophalangeal syndrome type II. *Langerhans cell granulomatosis, see Langerhans cell ...
Heterotaxy polysplenia syndrome presenting with bleeding from the greater curvature of stomach: a case report. *Mahrukh Ali. ... Heterotaxy syndrome: MedlinePlus genetics. Medlineplus.gov. https://medlineplus.gov/genetics/condition/heterotaxy-syndrome/. ... The "heterotaxy syndrome" also called "situs ambiguus" is a rare condition in which the internal organs of the chest and ... "Heterotaxy syndrome" also known as "situs ambiguus" is derived from two Greek words; heteros meaning other and taxis which ...
We present a case of left isomeric heterotaxy, a right aortic arch, and a left brachiocephalic artery arising from a left ... heterotaxy syndrome is controversial, as is the case with many heterotaxy patients [2]. The bronchial pattern and ipsilateral ... Heterotaxy syndrome is a complex set of abnormalities related to arrangements of the internal thoracic-abdominal structures ... 2021) Rare Case of a Newborn with Heterotaxy Syndrome, Right Aortic Arch and an Isolated Left Brachiocephalic Artery Arising ...
Heterotaxy Syndrome. * Transposition of the Great Arteries. * Levo-Transposition of the Great Arteries. ...
Heterotaxy Syndrome. * Transposition of the Great Arteries. * Levo-Transposition of the Great Arteries. ...
Heterotaxy syndromes and abnormal bowel rotation. Pediatric radiology Newman, B., Koppolu, R., Murphy, D., Sylvester, K. 2014; ... Adverse neonatal outcome was defined as any of: sepsis, short bowel syndrome, prolonged ventilation or death. Prolonged length ... Recurrence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive detection in infected but recovered ... Younger patients with mild pulmonary respiratory syndrome had higher risk of PCR positivity recurrence. The recurrence ...
Rebekah was born with Heterotaxy Syndrome. Basically, her heart was formed quite differently than a normal heart, as well as ...
She has complete AV canal, pulmonary atresia, supraventicular tachycardia, and Heterotaxy syndrome with malrotation. ...
... as in the heterotaxy syndrome with asplenia.(ABSTRACT TRUNCATED AT 400 WORDS) ...
Heterotaxy syndrome * Hypoplastic left or right heart syndrome * Maternal lupus/SSA disease ... There is a concern for a genetic abnormality or syndrome in the fetus ...
Improving results of the modified Fontan operation in patients with heterotaxy syndrome. 2003, Pubmed Stubbs, The forkhead ... Meckel syndrome hydrolethalus syndrome ciliopathy sensorineural hearing loss intellectual disability Down syndrome Bardet-Biedl ... Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation. ... Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects. 2017, Pubmed , ...
2018). Heterotaxy syndrome. [online] Available at: https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome [Accessed 6 Aug. 2018 ... It is estimated that 1 in 10,000 people are diagnosed with heterotaxy, and is the cause of 3% of all congenital heart cases [1 ... My focus was on the gene RAPGEF5, which was previously identified as a candidate gene for heterotaxy, a congenital disease ... Does loss of RAPGEF5 lead to any developmental abnormalities such as heterotaxy? ...
Double Choker: Double Aortic Arch with Bilateral Aortic Coarctation Associated with Heterotaxy-Asplenia Syndrome and Complex ...
Heterotaxy syndrome. *Mesocardia. *Situs inversus. Other fetal heart conditions we care for and treat. *Absent ductus venosus ...
Cohen MS, Schultz AH, Tian ZY, Donaghue DD, Weinberg PM, Gaynor JW, Rychik J : Heterotaxy syndrome with functional single ... Abnormalities of intestinal rotation in patients with heterotaxy syndrome and congenital heart disease. Congenit Heart Dis 2: ... John AS, Rychik J, Khan M, Yang W, Goldmuntz E : 22q11.2 deletion syndrome as a risk factor for aortic root dilation in ... Rychik J, Tian Z, Bebbington M, Feng X, McCann M, Mann S, Wilson RD, Johnson MP : The twin-twin transfusion syndrome: spectrum ...
Surgical repair for heterotaxy syndrome. Asher Witteveen thrives despite being born with a complex congenital heart condition. ...
... including children with heterotaxy syndromes like asplenia, or, in some cases of DiGeorge syndrome. Some parents think that ...
Heterotaxy is a rare syndrome that can cause any of the internal organs to be misplaced, multiplied, malformed, or missing. ... Ethan was diagnosed with heterotaxy syndrome when I was 25 weeks pregnant and home on maternity leave from the charity hospital ... Tell us about the heterotaxy event you are planning. We are holding a family conference at the end of July. Our community is ... Well be gathering together to learn from some of the foremost medical experts in heterotaxy and offering workshops, breakout ...
When Katie Stanley and Betsy Olesen found out their soon-to-be-born baby, William, had heterotaxy syndrome, a rare condition ...
Heterotaxy Syndrome Awareness Day. May 4th is Heterotaxy Syndrome Awareness Day. According to the Heterotaxy Connection, a non- ... and empowering families affected by Heterotaxy Syndrome: "Heterotaxy syndrome is a congenital condition that disrupts the ...
Syndrome, Asplenia. Syndrome, Heterotaxy. Syndrome, Ivemark. Syndrome, Polysplenia. Syndromes, Asplenia. Syndromes, Heterotaxy ... Heterotaxy Syndrome Entry term(s). Heterotaxy Syndromes Syndrome, Heterotaxy Syndromes, Heterotaxy Visceral Heterotaxy - ... Asplenia Syndrome Entry term(s). Asplenia Syndromes Asplenia with Cardiovascular Anomalies Ivemark Syndrome Right Atrial ... Polysplenia Syndromes Situs Ambiguus with Polysplenia Syndrome, Polysplenia Syndromes, Polysplenia Right Atrial Isomerism - ...
Heterotaxy Syndrome 14% * Vascular Ring 14% * Heart Muscle Ischemia 14% * Posttransplant Lymphoproliferative Disease 14% ...
Savannah is an 18-month-old with hypoplastic left heart syndrome, heterotaxy, and cleft lip/palate. She was born on June 6, ...
  • Outcomes for the superior cavopulmonary connection in children with hypoplastic left heart syndrome: a 30-year experience. (chop.edu)
  • Savannah is an 18-month-old with hypoplastic left heart syndrome, heterotaxy, and cleft lip/palate. (wubbanub.com)
  • Hypoplastic left heart syndrome (HLHS) is the most common functionally univentricular (single ventricle) anomaly. (sts.org)
  • Institute Jantung Negara (IJN) confirmed Ariana has Heterotaxy Syndrome - Right Atrial Isomerism with severe mutiple heart defects. (theasianparent.com)
  • A rare birth defect, heterotaxy syndrome (isomerism) usually involves heart defects of varying types and severity. (chop.edu)
  • The CT scan identified the features of heterotaxy syndrome with left isomerism and an abnormal blush from the branch of splenic artery supplying the greater curvature of the stomach. (springeropen.com)
  • left isomerism, i.e. polysplenia syndrome and right isomerism, i.e. asplenia syndrome. (springeropen.com)
  • We are reporting the first case of left isomerism variant of heterotaxy syndrome presenting with upper gastrointestinal bleed (non-variceal) from the greater curvature of stomach which was managed successfully with radiological intervention. (springeropen.com)
  • Double Choker: Double Aortic Arch with Bilateral Aortic Coarctation Associated with Heterotaxy-Asplenia Syndrome and Complex Atrioventricular Canal Defect. (rchsd.org)
  • Amber was diagnosed with heterotaxy syndrome and double outlet right ventricle (DORV) with pulmonary atresia soon after she was born. (chop.edu)
  • My focus was on the gene RAPGEF5 , which was previously identified as a candidate gene for heterotaxy, a congenital disease affecting heart development and the spatial arrangement of organs. (biologists.com)
  • It is estimated that 1 in 10,000 people are diagnosed with heterotaxy, and is the cause of 3% of all congenital heart cases [1]. (biologists.com)
  • According to the Heterotaxy Connection, a non-profit organization dedicated to to supporting, educating, and empowering families affected by Heterotaxy Syndrome: "Heterotaxy syndrome is a congenital condition that disrupts the normal left-right asymmetry of the body. (localanchor.com)
  • The International Nomenclature Committee for Pediatric and Congenital Heart Disease defines heterotaxy syndrome as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body (Jacobs et al. (springeropen.com)
  • Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. (nih.gov)
  • Some form of complex congenital heart disease is almost always present in Down syndrome. (msdmanuals.com)
  • Life expectancy for left sided heterotaxy is better than for its right sided counterpart due to association with less severe cardiac abnormalities. (radiopaedia.org)
  • Heterotaxy syndrome is a complex set of abnormalities related to arrangements of the internal thoracic-abdominal structures across the left-right axis. (heraldopenaccess.us)
  • Does loss of RAPGEF5 lead to any developmental abnormalities such as heterotaxy? (biologists.com)
  • Heterotaxy refers to developmental abnormalities of "sidedness" of the thoracic and abdominal organs. (msdmanuals.com)
  • The discovery of kindreds in which both heterotaxy and situs inversus totalis occur strongly suggests that these are not truly separate diseases. (medscape.com)
  • Because PCD is present in about a quarter of situs inversus totalis patients and due to the fact that situs inversus totalis is present in nearly half of individuals with PCD, this article covers both heterotaxy syndrome and PCD. (medscape.com)
  • [ 9 ] That is, the ratio of the heterotaxy phenotype to the situs inversus totalis phenotype decreased with progressive inbreeding. (medscape.com)
  • Since PCD is present in about a quarter of situs inversus totalis patients and since situs inversus totalis is present in nearly half of individuals with PCD, this article covers both heterotaxy syndrome and PCD. (medscape.com)
  • The "heterotaxy syndrome" also called "situs ambiguus" is a rare condition in which the internal organs of the chest and abdomen are abnormally arranged. (springeropen.com)
  • recessive disorder consisting of the triad of Approximately 50 % of patients with SCD sinusitis, bronchiectasis and situs inversus with have laterality defects (including situs inversus dextrocardia and represents a subgroup of totalis and, less frequently, heterotaxy and primary ciliary dyskinesia (PCD). (bvsalud.org)
  • We present a case of left isomeric heterotaxy, a right aortic arch, and a left brachiocephalic artery arising from a left ductus arteriosus. (heraldopenaccess.us)
  • Also, your child doesn't need antibiotics to help prevent infections with a few notable exceptions, including children with heterotaxy syndromes like asplenia, or, in some cases of DiGeorge syndrome . (heart.org)
  • [ 3 ] At least 12% of primary ciliary dyskinesia (PCD) patients have heterotaxy. (medscape.com)
  • [ 5 , 6 ] a patient's splenic phenotype should be viewed as merely one phenotypic aspect of an underlying laterality disorder, even though many prior reviews of heterotaxy syndrome have divided patients into two groups based on only splenic phenotype. (medscape.com)
  • Upper gastrointestinal bleed in the patients with heterotaxy syndrome is a rare presentation of a rare condition. (springeropen.com)
  • AV septal defect is also common among patients with heterotaxy syndromes. (msdmanuals.com)
  • and Arrhythmias in Patients with Genetic Arrhythmia Syndromes. (123library.org)
  • Heterotaxy is an abnormal arrangement of viscera across the left-right axis of the body often associated with a variety of complex cardiac lesions. (heraldopenaccess.us)
  • Kartagener syndrome (KS) is an autosomal prevalence is 1/15 000 to 1/30 000 live births1. (bvsalud.org)
  • 7) 2 major anomaly of the systemic and/or pulmonary veins, as in the heterotaxy syndrome with asplenia. (nih.gov)
  • Down Syndrome (Trisomy 21) Down syndrome is an abnormality of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. (msdmanuals.com)
  • Heterotaxy Syndrome is a rare birth defect that involves the heart and other organs. (theasianparent.com)
  • Her baby girl was born with Heterotaxy Syndrome (HS), with: half a functioning heart and a midline liver instead of on the right like other children. (theasianparent.com)
  • When Katie Stanley and Betsy Olesen found out their soon-to-be-born baby, William, had heterotaxy syndrome, a rare condition where organs form abnormally, it meant he needed a heart transplant shortly after birth. (morningsun.net)
  • Sung was born with a severe heart condition called Heterotaxy Syndrome. (htcflorida.org)
  • She has complete AV canal, pulmonary atresia, supraventicular tachycardia, and Heterotaxy syndrome with malrotation. (gofundme.com)
  • the word heterotaxy is derived from the Greek heteros, meaning "other" and taxis , meaning "arrangement. (medscape.com)
  • This syndrome is usually associated with a spectrum of health-related conditions involving birth defects in organs like the heart, spleen, liver, lungs and others. (springeropen.com)
  • We'll be gathering together to learn from some of the foremost medical experts in heterotaxy and offering workshops, breakout sessions, and panel discussions packed with diverse experiences from across the spectrum of heterotaxy. (weaversorchard.com)
  • 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955). (nih.gov)
  • For example, he developed the unique CHOP Scoring System for Twin-Twin Transfusion Syndrome, a potentially fatal condition where twins sharing a placenta experience uneven blood flow. (chop.edu)
  • Ethan was diagnosed with heterotaxy syndrome when I was 25 weeks pregnant and home on maternity leave from the charity hospital ship where our family had been serving for nearly six years. (weaversorchard.com)
  • An incidental note was made of multiple features of left sided heterotaxy syndrome - multiple aberrant nodules of splenic tissue, an azygous continuation of the IVC, midgut malrotation. (radiopaedia.org)
  • This prompted review of previous imaging to identify further features of left sided heterotaxy syndrome. (radiopaedia.org)
  • More than anything, we'll be giving heterotaxy families the chance to be together with people who truly understand. (weaversorchard.com)
  • Here we are presenting a case with left isomeric heterotaxy and a left brachiocephalic artery arising from a left ductus arteriosus in connection with the left pulmonary artery. (heraldopenaccess.us)