Endocardial Cushion Defects
Endocardial Cushions
Heart Defects, Congenital
Heart Valves
Heart Septum
Mesoderm
Heart Septal Defects
Transforming Growth Factor beta2
Atrial Septum
Chick Embryo
Fetal Heart
Gene Expression Regulation, Developmental
Embryology
Transforming Growth Factor beta3
Versicans
Trichloroethylene inhibits development of embryonic heart valve precursors in vitro. (1/45)
Previous epidemiological studies with humans and laboratory studies with chickens and rats linked trichloroethylene (TCE) exposure to cardiac defects. Although the cardiac defects in humans and laboratory animals produced by TCE are diverse, a majority of them involves valvular and septal structures. Progenitors of the valves and septa are formed by an epithelial-mesenchymal cell transformation of endothelial cells in the atrioventricular (AV) canal and outflow tract areas of the heart. Based on these studies, we hypothesized that TCE might cause cardiac valve and septa defects by specifically perturbing epithelial-mesenchymal cell transformation. We tested this hypothesis using an in vitro chick-AV canal culture model. This study shows that TCE affected several elements of epithelial-mesenchymal cell transformation. In particular, TCE blocked the endothelial cell-cell separation process that is associated with endothelial activation. Moreover, TCE inhibited mesenchymal cell formation throughout the concentration range tested (50-250 ppm). In contrast, TCE had no effect on the cell migration rate of the fully formed mesenchymal cells. Finally, the expression of 3 proteins (selected as molecular markers of epithelial-mesenchymal cell transformation) was analyzed in untreated and TCE-treated cultures. TCE inhibited the expression of the transcription factor Mox-1 and extracellular matrix (ECM) protein fibrillin 2. In contrast, TCE had no effect on the expression of alpha-smooth muscle actin. These data suggest that TCE may cause cardiac valvular and septal malformations by inhibiting endothelial separation and early events of mesenchymal cell formation in the heart. (+info)Surgical management of mitral regurgitation after repair of endocardial cushion defects: early and midterm results. (2/45)
BACKGROUND: Mitral regurgitation (MR) represents the principal indication for reoperation in patients after repair of atrioventricular septal defects (AVSD). Reports of mitral valvuloplasty (MVP) in such patients are few; the alternative, mitral valve replacement (MVR), necessitates commitment to future valve replacement and long-term anticoagulation. We sought to determine the outcome of those patients who underwent either MVP or MVR between January 1, 1988, and December 31, 1998, for significant MR after repair of AVSD. Furthermore, we sought to identify (a) morphological predictors necessitating MVR, and (b) predictors of future reoperation within the MVP group. METHODS AND RESULTS: Retrospective review of clinical, operative, and echocardiographic data were performed. There were 46 patients identified (37 MVP and 9 MVR). The median age at initial AVSD repair was 0.6 years, and the age at subsequent mitral valve operation was 2.8 years. The early postoperative mortality rate was 2.2%, and survival at 1 and 10 years was 89.9% and 86.6%, respectively. A high rate of complete heart block was noted within the MVR group (37.5%). Freedom from later mitral valve reoperation for both groups was similar. No significant morphological predictors necessitating MVR were found. Predictors of reoperation within the MVP group included the presence of moderate or worse MR in the early postoperative period. In both groups New York Heart Association class, degree of MR, growth, and ventricular volumes improved. CONCLUSIONS: Mitral valve surgery significantly improves clinical status, with a sustained improvement in ventricular chamber size. MR can be successfully managed in patients after repair of AVSD independent of morphological type. Overall survival is acceptable, and further reoperation within the MVP group is influenced by early outcome of repair. (+info)Unusual association of hypertrophic cardiomyopathy with complete atrioventricular canal defect and Down syndrome. (3/45)
Hypertrophic cardiomyopathy typically presents as an isolated cardiac lesion. Transient hypertrophic cardiomyopathy in infancy has been described as a result of exposure to maternal metabolic disorders or to corticosteroids. In addition, hypertrophic cardiomyopathy has been described in association with genetic syndromes and, in rare cases, as a primary lesion associated with other congenital heart defects. We describe the unusual association of hypertrophic cardiomyopathy and complete atrioventricular canal defect in an infant with trisomy 21. (+info)Retinoic acid administration is associated with changes in the extracellular matrix and cardiac mesenchyme within the endocardial cushion. (4/45)
Retinoic acid has been associated with a number of cardiac defects, some of which seem to be related to changes in the endocardial cushions. Studies in mice and older chick embryos have suggested that these defects may be associated with a decrease in mesenchymal cell formation within the cushion. In a previous report we showed that retinoic acid lowered the number of mesenchymal cells in a culture bioassay of mesenchyme formation and that this response was due to retinoic acid modifying the production of particulate matrix from the myocardium. In this study, we have extended these observations to the embryo by implanting a retinoic acid coated bead into the embryo and examined the effect on cardiac mesenchyme formation and in the production of the particulate matrix. In all cases the addition of retinoic acid resulted in a decrease in the number of mesenchymal cells invading the endocardial cushions. In addition retinoic acid increased the production of hLAMP-1 and fibronectin but not transferrin, confirming our earlier report. Finally, we measured the volume of the cushion and calculated the cell density of both the inferior and superior cushions. The results suggest that the superior cushion is more sensitive to retinoic acid treatment than the inferior cushion. Collectively, these results support our earlier work that suggests that the mechanism of retinoic acid cardiac abnormalities involves a disruption in the production of particulate matrix from the myocardium and a subsequent decrease in cardiac mesenchyme cells that results in a malformed cardiac cushions. (+info)Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. (5/45)
Perlecan is a heparan-sulfate proteoglycan abundantly expressed in pericellular matrices and basement membranes during development. Inactivation of the perlecan gene in mice is lethal at two developmental stages: around E10 and around birth. We report a high incidence of malformations of the cardiac outflow tract in perlecan-deficient embryos. Complete transposition of great arteries was diagnosed in 11 out of 15 late embryos studied (73%). Three of these 11 embryos also showed malformations of semilunar valves. Mesenchymal cells in the outflow tract were abnormally abundant in mutant embryos by E9.5, when the endocardial-mesenchymal transformation starts in wild-type embryos. At E10.5, mutant embryos lacked well-defined spiral endocardial ridges, and the excess of mesenchymal cells obstructed sometimes the outflow tract lumen. Most of this anomalous mesenchyme expressed the smooth muscle cell-specific alpha-actin isoform, a marker of the neural crest in the outflow tract of the mouse. In wild-type embryos, perlecan is present in the basal surface of myocardium and endocardium, as well as surrounding presumptive neural crest cells. We suggest that the excess of mesenchyme at the earlier stages of conotruncal development precludes the formation of the spiral ridges and the rotation of the septation complex in order to achieve a concordant ventriculoarterial connection. The observed mesenchymal overpopulation might be due to an uncontrolled migration of neural crest cells, which would arrive prematurely to the heart. Thus, perlecan is involved in the control of the outflow tract mesenchymal population size, underscoring the importance of the extracellular matrix in cardiac morphogenesis. (+info)Elevated glucose inhibits VEGF-A-mediated endocardial cushion formation: modulation by PECAM-1 and MMP-2. (6/45)
Atrioventricular (AV) septal defects resulting from aberrant endocardial cushion (EC) formation are observed at increased rates in infants of diabetic mothers. EC formation occurs via an epithelial-mesenchymal transformation (EMT), involving transformation of endocardial cells into mesenchymal cells, migration, and invasion into extracellular matrix. Here, we report that elevated glucose inhibits EMT by reducing myocardial vascular endothelial growth factor A (VEGF-A). This effect is reversed with exogenous recombinant mouse VEGF-A165, whereas addition of soluble VEGF receptor-1 blocks EMT. We show that disruption of EMT is associated with persistence of platelet endothelial cell adhesion molecule-1 (PECAM-1) and decreased matrix metalloproteinase-2 (MMP-2) expression. These findings correlate with retention of a nontransformed endocardial sheet and lack of invasion. The MMP inhibitor GM6001 blocks invasion, whereas explants from PECAM-1 deficient mice exhibit MMP-2 induction and normal EMT in high glucose. PECAM-1-negative endothelial cells are highly motile and express more MMP-2 than do PECAM-1-positive endothelial cells. During EMT, loss of PECAM-1 similarly promotes single cell motility and MMP-2 expression. Our findings suggest that high glucose-induced inhibition of AV cushion morphogenesis results from decreased myocardial VEGF-A expression and is, in part, mediated by persistent endocardial cell PECAM-1 expression and failure to up-regulate MMP-2 expression. (+info)Loss of distinct arterial and venous boundaries in mice lacking endoglin, a vascular-specific TGFbeta coreceptor. (7/45)
Several characteristic morphological and functional differences distinguish arteries from veins. It was thought that hemodynamic forces shaped these differences; however, increasing evidence suggests that morphogenetic programs play a central role in blood vessel differentiation. Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by the inappropriate fusion of arterioles with venules. The genes implicated in this disease, ALK1 and endoglin, may be involved in defining the fundamental boundaries between arteries and veins. We previously showed that mice lacking Alk1 lost structural, molecular, and functional distinctions between arteries and veins. Here, we report that mice lacking endoglin develop arterial-venous malformations and fail to confine intraembryonic hematopoiesis to arteries. In contrast to Alk1 mutants, endoglin mutants do not show profound vessel dilation or downregulation of arterial ephrinB2. Finally, our data indicate that a failure in cardiac cushion formation observed in both strains may be secondary to the peripheral vasculature defect. The phenotypic similarities, yet reduced severity, implicates endoglin as an accessory coreceptor that specifically modulates Alk1 signaling. We propose that endoglin and Alk1 are necessary for the maintenance of distinct arterial-venous vascular beds and that attenuation of the Alk1 signaling pathway is the precipitating event in the etiology of HHT. (+info)Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation. (8/45)
We have recently described a new subfamily of Fox genes, Foxp1/2/4, which are transcriptional repressors and are thought to regulate important aspects of development in several tissues, including the lung, brain, thymus and heart. Here, we show that Foxp1 is expressed in the myocardium as well as the endocardium of the developing heart. To further explore the role of Foxp1 in cardiac development, we inactivated Foxp1 through gene targeting in embryonic stem cells. Foxp1 mutant embryos have severe defects in cardiac morphogenesis, including outflow tract septation and cushion defects, a thin ventricular myocardial compact zone caused by defects in myocyte maturation and proliferation, and lack of proper ventricular septation. These defects lead to embryonic death at E14.5 and are similar to those observed in other mouse models of congenital heart disease, including Sox4 and Nfatc1 null embryos. Interestingly, expression of Sox4 in the outflow tract and cushions of Foxp1 null embryos is significantly reduced, while remodeling of the cushions is disrupted, as demonstrated by reduced apoptosis and persistent Nfatc1 expression in the cushion mesenchyme. Our results reveal a crucial role for Foxp1 in three aspects of cardiac development: (1) outflow tract development and septation, (2) tissue remodeling events required for cardiac cushion development, and (3) myocardial maturation and proliferation. (+info)An endocardial cushion defect is a type of congenital heart defect that affects the development of the heart's septum and valves. The endocardial cushions are a pair of tissue formations in the developing heart that eventually become part of the atrial and ventricular septums (the walls that divide the right and left chambers of the heart) as well as the tricuspid and mitral valves (which control blood flow between the chambers).
Endocardial cushion defects occur when these tissues fail to fuse properly during fetal development, resulting in abnormal openings or malformations of the septum and/or valves. This can lead to various heart-related symptoms and complications, such as:
* A hole between the right and left atria (atrial septal defect) or ventricles (ventricular septal defect)
* Improper functioning of the tricuspid or mitral valve, leading to leakage or regurgitation of blood
* Increased risk of infection in the heart (endocarditis) due to abnormal blood flow patterns
Endocardial cushion defects can range from mild to severe and may require medical intervention, such as surgery or medication, to correct. Symptoms may include shortness of breath, fatigue, poor feeding, and slow growth in infants and children. In some cases, endocardial cushion defects may not cause any noticeable symptoms until later in life.
The endocardial cushions are a part of the embryonic heart that contributes to the formation of the atrioventricular septum and the valves between the chambers of the heart. They are composed of mesenchymal tissue, which is a type of connective tissue that contains cells called mesenchymal stem cells. During fetal development, these cushions grow and fuse together to form the atrioventricular septum, which separates the upper chambers (atria) from the lower chambers (ventricles) of the heart. The endocardial cushions also give rise to the valves that regulate blood flow between the chambers of the heart. Defects in the development of the endocardial cushions can lead to congenital heart defects, such as atrial septal defect and ventricular septal defect.
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.
Heart valves are specialized structures in the heart that ensure unidirectional flow of blood through its chambers during the cardiac cycle. There are four heart valves: the tricuspid valve and the mitral (bicuspid) valve, located between the atria and ventricles, and the pulmonic (pulmonary) valve and aortic valve, located between the ventricles and the major blood vessels leaving the heart.
The heart valves are composed of thin flaps of tissue called leaflets or cusps, which are supported by a fibrous ring. The aortic and pulmonic valves have three cusps each, while the tricuspid and mitral valves have three and two cusps, respectively.
The heart valves open and close in response to pressure differences across them, allowing blood to flow forward into the ventricles during diastole (filling phase) and preventing backflow of blood into the atria during systole (contraction phase). A properly functioning heart valve ensures efficient pumping of blood by the heart and maintains normal blood circulation throughout the body.
The endocardium is the innermost layer of tissue that lines the chambers of the heart and the valves between them. It is a thin, smooth membrane that is in contact with the blood within the heart. This layer helps to maintain the heart's internal environment, facilitates the smooth movement of blood through the heart, and provides a protective barrier against infection and other harmful substances. The endocardium is composed of simple squamous epithelial cells called endothelial cells, which are supported by a thin layer of connective tissue.
The heart septum is the thick, muscular wall that divides the right and left sides of the heart. It consists of two main parts: the atrial septum, which separates the right and left atria (the upper chambers of the heart), and the ventricular septum, which separates the right and left ventricles (the lower chambers of the heart). A normal heart septum ensures that oxygen-rich blood from the lungs does not mix with oxygen-poor blood from the body. Any defect or abnormality in the heart septum is called a septal defect, which can lead to various congenital heart diseases.
In medical and embryological terms, the mesoderm is one of the three primary germ layers in the very early stages of embryonic development. It forms between the ectoderm and endoderm during gastrulation, and it gives rise to a wide variety of cell types, tissues, and organs in the developing embryo.
The mesoderm contributes to the formation of structures such as:
1. The connective tissues (including tendons, ligaments, and most of the bones)
2. Muscular system (skeletal, smooth, and cardiac muscles)
3. Circulatory system (heart, blood vessels, and blood cells)
4. Excretory system (kidneys and associated structures)
5. Reproductive system (gonads, including ovaries and testes)
6. Dermis of the skin
7. Parts of the eye and inner ear
8. Several organs in the urogenital system
Dysfunctions or abnormalities in mesoderm development can lead to various congenital disorders and birth defects, highlighting its importance during embryogenesis.
A heart septal defect is a type of congenital heart defect, which means it is present at birth. It involves an abnormal opening in the septum, the wall that separates the two sides of the heart. This opening allows oxygen-rich blood to leak into the oxygen-poor blood chambers in the heart.
There are several types of heart septal defects, including:
1. Atrial Septal Defect (ASD): A hole in the atrial septum, the wall between the two upper chambers of the heart (the right and left atria).
2. Ventricular Septal Defect (VSD): A hole in the ventricular septum, the wall between the two lower chambers of the heart (the right and left ventricles).
3. Atrioventricular Septal Defect (AVSD): A combination of an ASD and a VSD, often accompanied by malformation of the mitral and/or tricuspid valves.
The severity of a heart septal defect depends on the size of the opening and its location in the septum. Small defects may cause no symptoms and may close on their own over time. Larger defects can lead to complications, such as heart failure, pulmonary hypertension, or infective endocarditis, and may require medical or surgical intervention.
In medical terms, the heart is a muscular organ located in the thoracic cavity that functions as a pump to circulate blood throughout the body. It's responsible for delivering oxygen and nutrients to the tissues and removing carbon dioxide and other wastes. The human heart is divided into four chambers: two atria on the top and two ventricles on the bottom. The right side of the heart receives deoxygenated blood from the body and pumps it to the lungs, while the left side receives oxygenated blood from the lungs and pumps it out to the rest of the body. The heart's rhythmic contractions and relaxations are regulated by a complex electrical conduction system.
Transforming Growth Factor beta2 (TGF-β2) is a type of cytokine, specifically a growth factor, that plays a role in cell growth, division, and apoptosis (programmed cell death). It belongs to the TGF-β family of proteins. TGF-β2 is involved in various biological processes such as embryonic development, tissue homeostasis, wound healing, and immune regulation. In particular, it has been implicated in the regulation of extracellular matrix production and fibrosis, making it an important factor in diseases that involve excessive scarring or fibrotic changes, such as glaucoma, Marfan syndrome, and systemic sclerosis.
The atrial septum is the wall of tissue that divides the right and left atria, which are the upper chambers of the heart. This septum ensures that oxygen-rich blood in the left atrium is kept separate from oxygen-poor blood in the right atrium. Defects or abnormalities in the atrial septum, such as a hole or a gap, can result in various heart conditions, including septal defects and congenital heart diseases.
A chick embryo refers to the developing organism that arises from a fertilized chicken egg. It is often used as a model system in biological research, particularly during the stages of development when many of its organs and systems are forming and can be easily observed and manipulated. The study of chick embryos has contributed significantly to our understanding of various aspects of developmental biology, including gastrulation, neurulation, organogenesis, and pattern formation. Researchers may use various techniques to observe and manipulate the chick embryo, such as surgical alterations, cell labeling, and exposure to drugs or other agents.
The fetal heart is the cardiovascular organ that develops in the growing fetus during pregnancy. It starts to form around 22 days after conception and continues to develop throughout the first trimester. By the end of the eighth week of gestation, the fetal heart has developed enough to pump blood throughout the body.
The fetal heart is similar in structure to the adult heart but has some differences. It is smaller and more compact, with a four-chambered structure that includes two atria and two ventricles. The fetal heart also has unique features such as the foramen ovale, which is a hole between the right and left atria that allows blood to bypass the lungs, and the ductus arteriosus, a blood vessel that connects the pulmonary artery to the aorta and diverts blood away from the lungs.
The fetal heart is responsible for pumping oxygenated blood from the placenta to the rest of the body and returning deoxygenated blood back to the placenta for re-oxygenation. The rate of the fetal heartbeat is faster than that of an adult, typically ranging from 120 to 160 beats per minute. Fetal heart rate monitoring is a common method used during pregnancy and childbirth to assess the health and well-being of the developing fetus.
Developmental gene expression regulation refers to the processes that control the activation or repression of specific genes during embryonic and fetal development. These regulatory mechanisms ensure that genes are expressed at the right time, in the right cells, and at appropriate levels to guide proper growth, differentiation, and morphogenesis of an organism.
Developmental gene expression regulation is a complex and dynamic process involving various molecular players, such as transcription factors, chromatin modifiers, non-coding RNAs, and signaling molecules. These regulators can interact with cis-regulatory elements, like enhancers and promoters, to fine-tune the spatiotemporal patterns of gene expression during development.
Dysregulation of developmental gene expression can lead to various congenital disorders and developmental abnormalities. Therefore, understanding the principles and mechanisms governing developmental gene expression regulation is crucial for uncovering the etiology of developmental diseases and devising potential therapeutic strategies.
Embryology is the branch of biology that deals with the formation, growth, and development of an embryo. It is a scientific study that focuses on the structural and functional changes that occur during the development of a fertilized egg or zygote into a mature organism. Embryologists study the various stages of embryonic development, including gametogenesis (the formation of sperm and eggs), fertilization, cleavage, gastrulation, neurulation, and organogenesis. They also investigate the genetic and environmental factors that influence embryonic development and may use this information to understand and prevent birth defects and other developmental abnormalities.
Transforming Growth Factor-beta 3 (TGF-β3) is a type of cytokine, specifically a growth factor that belongs to the TGF-β family. It plays crucial roles in regulating various cellular processes such as proliferation, differentiation, apoptosis, and extracellular matrix production.
TGF-β3 has been identified to have significant functions during embryonic development and tissue repair. In particular, it is known to be involved in the regulation of wound healing and scar formation. TGF-β3 can influence the behavior of various cell types, including fibroblasts, epithelial cells, and immune cells.
In some cases, TGF-β3 has been investigated for its potential therapeutic use in reducing fibrosis and promoting tissue regeneration. However, more research is needed to fully understand its mechanisms and potential clinical applications.
Versican is a type of proteoglycan, which is a complex protein molecule that contains one or more long sugar chains (glycosaminoglycans) attached to it. Proteoglycans are important components of the extracellular matrix (the material that provides structural support and regulates cell behavior in tissues and organs).
Versican is primarily found in the extracellular matrix of connective tissues, including skin, tendons, ligaments, and blood vessels. It plays a role in regulating cell adhesion, migration, and proliferation, as well as in maintaining the structural integrity of tissues. Versican has been implicated in various physiological and pathological processes, such as embryonic development, wound healing, inflammation, and cancer progression.
There are several isoforms of versican (V0, V1, V2, and V3) that differ in their structure and function, depending on the specific glycosaminoglycan chains attached to them. Abnormal expression or regulation of versican has been associated with various diseases, including cancer, fibrosis, and inflammatory disorders.
Morphogenesis is a term used in developmental biology and refers to the process by which cells give rise to tissues and organs with specific shapes, structures, and patterns during embryonic development. This process involves complex interactions between genes, cells, and the extracellular environment that result in the coordinated movement and differentiation of cells into specialized functional units.
Morphogenesis is a dynamic and highly regulated process that involves several mechanisms, including cell proliferation, death, migration, adhesion, and differentiation. These processes are controlled by genetic programs and signaling pathways that respond to environmental cues and regulate the behavior of individual cells within a developing tissue or organ.
The study of morphogenesis is important for understanding how complex biological structures form during development and how these processes can go awry in disease states such as cancer, birth defects, and degenerative disorders.
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Septal defects20
- Endocardial cushion defects, more commonly known as atrioventricular (AV) canal or septal defects, include a range of defects characterized by involvement of the atrial septum, the ventricular septum, and one or both of the AV valves. (medscape.com)
- A complete AV septal defect indicates the presence of both atrial and ventricular septal defects with a common AV valve (see image below). (medscape.com)
- note the common atrioventricular valve straddling the atrial septal and ventricular septal defects. (medscape.com)
- Predominant left-to-right shunting of blood through the heart occurs in patients with endocardial cushion defects (atrioventricular [AV] canal or septal defects). (medscape.com)
- In most cases of significant chromosomal aberration, AV septal defects are associated with other noncardiac congenital defects. (medscape.com)
- However, isolated AV septal defects can be transmitted in families as an autosomal dominant trait. (medscape.com)
- Linkage analyses have suggested a locus for autosomal dominant AV septal defects on chromosome 1p but no specific gene defect has yet been identified. (medscape.com)
- The frequency rate of endocardial cushion defect (atrioventricular [AV] canal or septal defects) is about 3% of children with congenital heart disease. (medscape.com)
- Atrioventricular septal defects represent a group of anatomic lesions with varying pathophysiologies, but they share a common developmental origin in the arrest or abnormal development of the endocardial cushions in the embryonic atrioventricular canal. (sts.org)
- Of these, 35-40% have AV septal defects. (wikipedia.org)
- citation needed] Patients with atrial Septal Defects may have atrial fibrillation, atrial tachycardia, or atrial flutter, but these abnormal heart rhythms are not usually seen until the affected individual grows older. (wikipedia.org)
- Q21.2 Sources Pryor R, Woodwork MB, Blount SG: Electrocardiographic Changes in Atrial Septal Defects:Ostium Secundum versus Ostium Primum defect. (wikipedia.org)
- Learn about atrial septal defects (ASD), from the heart experts at Children's Colorado. (childrenscolorado.org)
- Perimembranous ventricular septal defects (VSDs) are located in the left ventricle outflow tract beneath the aortic valve. (medscape.com)
- Ventricular septal defects (VSDs) occur when any portion of the ventricular septum does not correctly form or if any of components do not appropriately grow together. (medscape.com)
- Subacute bacterial endocarditis prophylaxis for unrepaired ventricular septal defects is not recommended. (medscape.com)
- Atrial septal defects (ASD) belong to a group of congenital heart anomalies that allow communication between the left and right sides of the heart and can present independently or concomitantly with other lesions. (sts.org)
- This chapter will discuss the etiology and characteristics, diagnosis, treatment and outcomes of patients who present with these various forms of atrial septal defects, but discussion of primum atrial septal defects will be covered in the chapter on atrioventricular canal defects titled Atrioventricular Septal Defects (AVSD) (Atrioventricular Canal Defects) (Endocardial Cushion Defects) . (sts.org)
- Mettler, Bret A, and Danielle Gottlieb-Sen. "Atrial Septal Defects (ASD). (sts.org)
- Mettler BA, Gottlieb-Sen D. Atrial Septal Defects (ASD). (sts.org)
Congenital heart d4
- Among birth defects, congenital heart disease is the leading cause of infant mortality. (msdmanuals.com)
- Congenital heart disease causes more deaths in the first year of life than any other birth defects. (pharmaceuticalintelligence.com)
- Most children with congenital heart disease do not have other types of birth defects. (pharmaceuticalintelligence.com)
- Jiang Ai, an eight-year-old girl, received financial aid from Little Red Scarf to have heart surgery for Endocardial Cushion Defect (a congenital heart disease) in February 2016. (tfishfund.org)
Complete endocardial cushion defect1
- When a complete endocardial cushion defect is present, a large ventricular septal defect as well as valvular insufficiency may develop, resulting in volume overload of both the left and right ventricles associated with heart failure in early life. (medscape.com)
Failure of the endocardial cushions2
- The failure of the endocardial cushions to fuse results in an abnormally low position of the AV valves and an abnormally high position of the aortic valve. (medscape.com)
- Perimembranous VSD is caused by failure of the endocardial cushions, the conotruncal ridges, and the muscular septum to fuse at a single point in space. (medscape.com)
Atrial septum4
- AVCD is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum . (wikipedia.org)
- The ostium primum atrial septal defect is a defect in the atrial septum at the level of the tricuspid and mitral valves. (wikipedia.org)
- This is sometimes known as an endocardial cushion defect because it often involves the endocardial cushion, which is the portion of the heart where the atrial septum meets the ventricular septum and the mitral valve meets the tricuspid valve. (wikipedia.org)
- The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both. (bvsalud.org)
Syndrome7
- The characteristic pattern of the endocardial cushion defect (atrioventricular [AV] canal or septal defect) has been attributed to trisomy 21 and Down syndrome in some cases. (medscape.com)
- This type of congenital heart defect is associated with patients with Down syndrome (trisomy 21) or heterotaxy syndromes . (wikipedia.org)
- [3] [10] The remaining 30-40% of cases are not linked to a syndrome, with AVCD observed without other major defects. (wikipedia.org)
- Endocardial cushion defects are the most common congenital heart defect that is associated with Down syndrome. (wikipedia.org)
- In most children the cause isn't known, although canal defects are often associated with Down syndrome. (texaschildrens.org)
- Uncommonly associated defects include atrial septal defect, cor triatriatum, left superior vena cava, unroofed coronary sinus, partial anomalous pulmonary venous drainage, pulmonary venous obstruction, double-orifice mitral valve, and Wolff-Parkinson-White syndrome. (medscape.com)
- Her condition, called endocardial cushion defect, occurs in half of all babies born with Down syndrome. (azelksmp.org)
Coarctation2
- Defects such as coarctation of the aorta may not cause problems for many years. (pharmaceuticalintelligence.com)
- Shone complex is a combination of 4 congenital heart defects: supravalvar mitral ring, parachute mitral valve, subvalvar aortic stenosis, and aortic coarctation. (medscape.com)
Abnormalities4
- Endocardial cushion defects are associated with abnormalities of the atrioventricular valves (the mitral valve and the tricuspid valve). (wikipedia.org)
- Congenital heart defects affect approximately 1-5 % of human newborns each year, and of these cardiac defects 20-30 % are due to heart valve abnormalities. (springer.com)
- Secundum atrial septal and foramen ovale defects are often isolated while sinus venosus defects are associated with pulmonary vein abnormalities. (sts.org)
- Coronary sinus defects are associated with systemic vein abnormalities. (sts.org)
Right ventricle2
- An atrial septal defect (ASD) is an opening in the interatrial septum, causing a left-to-right shunt and volume overload of the right atrium and right ventricle. (msdmanuals.com)
- Independent of the type of ventricular septal defect (VSD), the hemodynamic significance of the VSD is determined by two factors: the size of the defect and the resistance to flow out of the right ventricle, including the pulmonary vascular resistance (PVR) and anatomic right ventricular outflow obstruction. (medscape.com)
Type atrial septal1
- Atrioventricular Septal Defect Atrioventricular (AV) septal defect consists of an ostium primum type atrial septal defect and a common AV valve, with or without an associated inlet (AV septal type) ventricular septal defect. (msdmanuals.com)
Pulmonary1
- Large VSDs (defined as defect size equal to or greater than the diameter of the aortic annulus) typically have left heart dilatation and pulmonary artery hypertension with normal left ventricular systolic function. (medscape.com)
Tricuspid2
- A partial defect indicates atrial septal involvement with separate mitral and tricuspid valve orifices. (medscape.com)
- The defect may be partially or completely occluded by the septal leaflet of the tricuspid valve. (medscape.com)
Superior and inferior1
- In these patients, the superior and inferior cushions do not close completely. (medscape.com)
Tetralogy1
- Other common associated lesions in patients with supravalvar mitral ring include ventricular septal defect (VSD), patent ductus arteriosus (PDA), atrioventricular (AV) canal defect, and tetralogy of Fallot. (medscape.com)
Ventricular septum2
- Defects may extend into adjacent portions of the ventricular septum. (medscape.com)
- Normal closure of the ventricular septum occurs through multiple concurrent embryologic mechanisms that help to close the septum's membranous portion: (1) downward growth of the conotruncal ridges forming the outlet septum, (2) growth of the endocardial cushions forming the inlet septum, and (3) growth of the muscular septum forming the apical and midmuscular portions of the septum. (medscape.com)
Symptoms3
- What Are the Signs & Symptoms of an Atrioventricular Canal Defect? (kidshealth.org)
- Symptoms such as shortness of breath, a blue tint to the skin, lips, or fingernails, easily tiring with activity, or an abnormal heart rhythm can be signs of a congenital defect. (demanddeborah.org)
- Which tests are done on the baby depend on the defect, and the symptoms. (pharmaceuticalintelligence.com)
Linked to birth defects1
- They have been linked to birth defects, including a transposition of the great arteries, among several other side effects. (charlesboyk-law.com)
Cardiac6
- and for this chapter, we will use the term atrioventricular septal defect (AVSD) as this is the preferred term utilized in The International Pediatric and Congenital Cardiac Code ( www.IPCCC.net ). (sts.org)
- There are three major signaling pathways required for early specification and initiation of endothelial-to-mesenchymal transformation (EMT) in the cardiac cushions: BMP, TGF-β, and Notch signaling. (springer.com)
- Together, these three essential signaling pathways help form the cardiac cushions and populate them with mesenchyme and, consequently, set off the cascade of events required to develop mature heart valves. (springer.com)
- Here, we discuss BMP, TGF-β, and Notch signaling pathways during mouse cardiac cushion formation and how they together produce a coordinated EMT response in the developing mouse valves. (springer.com)
- Small VSDs (defined as VSD dimension less than half the size of the aortic annulus diameter) are usually isolated defects with otherwise normal cardiac anatomy and function. (medscape.com)
- Additional cardiac lesions that increase left-to-right shunting (eg, atrial septal defect, patent ductus arteriosus, right heart obstructive lesions) may predispose patients to earlier development of CHF. (medscape.com)
Trisomy 211
- that the MTHFR 677TT could be a mutual genetic risk factor for the co-occurrence of trisomy 21 and midline defects, the risk of which may be reduced by periconceptional folic acid supplementation. (nih.gov)
Mitral2
- A portion of the AV valves originates from the endocardial cushions, and their improper fusion results in anterior and posterior components to the mitral valve leaflet. (medscape.com)
- Supravalvar mitral ring is a rare congenital heart defect of surgical importance. (medscape.com)
Diagnosis2
- Hospitalizations that included at least one discharge diagnosis with a birth defect ICD-9-CM code meeting these definitions were considered "birth defect-associated" hospitalizations. (medscape.com)
- Eligible birth defect codes found in any diagnosis field (i.e., primary or any of 24 reported secondary fields) were analyzed for all birth defects combined, for categories of birth defects broadly defined by organ system, [ 4 ] and for individual defects. (medscape.com)
Ostium secundum1
- In contrast ostium secundum defects have an axis between 0 degrees and 180 degrees with most cases to the right of 100 degrees. (wikipedia.org)
Abnormal2
- AV canal defects arise from abnormal development of the endocardial cushions. (medscape.com)
- But the atrioventricular valve plane is abnormal, a common atrium ( A ) is observed, and there is a visible defect ( arrow ) in the interventricular septum. (mhmedical.com)
Heart24
- Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as " common atrioventricular canal " or " endocardial cushion defect " (ECD), is characterized by a deficiency of the atrioventricular septum of the heart that creates connections between all four of its chambers. (wikipedia.org)
- [3] Unlike some heart defects, the condition will not resolve over time and most infants must undergo open heart surgery. (wikipedia.org)
- [7] Other risk factors include: having a parent with a congenital heart defect , alcohol use while pregnant, uncontrolled diabetes treatment during pregnancy and some medications during pregnancy. (wikipedia.org)
- Look for associated anomalies, in particular, certain subtypes of heart defects, like atrioventricular canal. (cdc.gov)
- An atrioventricular canal defect (AV canal for short) is a heart problem in which the center of a baby's heart does not form normally before birth. (kidshealth.org)
- Many types involve other defects of the heart and abdomen area. (medlineplus.gov)
- In the more common types of dextrocardia, other heart defects are also present. (medlineplus.gov)
- A complete mirror image dextrocardia with no heart defects requires no treatment. (medlineplus.gov)
- If heart defects are present with dextrocardia, the baby will most likely need surgery. (medlineplus.gov)
- All children with heart defects may need to take antibiotics before surgeries or dental treatments. (medlineplus.gov)
- Some types of over-the-counter decongestants, including the popular phenylephrine and pseudoephedrine have been linked to rare, specific birth defects of the digestive tract, ear and heart. (madeformums.com)
- Reuters reports that first-trimester use of phenylephrine, which is found in over the counter remedies such as Sudafed among others was linked to an eight-fold higher risk of a heart defect called endocardial cushion defect. (madeformums.com)
- This defect - also known as endocardial cushion defect or atrioventricular septal defect - is caused by a poorly formed central area of the heart. (rchsd.org)
- Recent literature indicates that the key factors and pathways that regulate valve development are also implicated in congenital heart defects and valve disease. (springer.com)
- Atrioventricular canal defect (also known as atrioventricular septal defect or endocardial cushion defect) occurs when large hole in center of a child's heart connects all 4 chambers. (texaschildrens.org)
- Texas Children's Heart Center typically performs surgery in the first few months after birth to correct a complete canal defect. (texaschildrens.org)
- Johnson's son suffered several side effects from the drug, including congestive heart failure, congenital endocardial cushion defect, a heart murmur, and developmental delays causing a failure to thrive. (charlesboyk-law.com)
- Depending on the severity, some congenital heart defects cause problems right away at birth, while others may not cause problems until later, and some minor defects may never cause problems at all. (demanddeborah.org)
- However, heart defects can be part of genetic and chromosome syndromes. (pharmaceuticalintelligence.com)
- Poorly controlled blood sugar in women who have diabetes during pregnancy has also been linked to a high rate of congenital heart defects. (pharmaceuticalintelligence.com)
- Most congenital heart defects are found during a pregnancy ultrasound. (pharmaceuticalintelligence.com)
- When a defect is found, a pediatric heart doctor, surgeon, and other specialists can be there when the baby is delivered. (pharmaceuticalintelligence.com)
- other congenital heart defects are also present in 90% of patients. (medscape.com)
- First-trimester use of phenylephrine, which is found in Sudafed among other products, was tied to an eight-fold higher risk of a heart defect called endocardial cushion defect. (blogspot.com)
Anatomy1
- The key to surgical management is an in depth understanding of the anatomy, not only of the atrioventricular valves but also the ventricular septal defect, the conduction system and the left ventricular outflow tract. (sts.org)
AVCD1
- Learn about partial & complete Atrioventricular Canal Defects (AVCD) in children & treatment options at Children's Colorado focused on positive outcomes. (childrenscolorado.org)
Canal defect3
- What Is an Atrioventricular Canal Defect? (kidshealth.org)
- In some cases, doctors may diagnose atrioventricular canal defect while a women is pregnant. (texaschildrens.org)
- Infants with canal defect have trouble breathing and their bodies may not grow normally. (texaschildrens.org)
Neural1
- They found that the mother, who also had not supplemented her folic acid intake, had a secondarily altered folate status with an increased homocysteine level, suggesting that the homozygous TT mutation in the MTHFR gene in both mother and her child had contributed to the presentation of DS and a neural tube defect. (nih.gov)
Chromosome1
- Nurses had interviewed the mothers of babies with birth defects not caused by chromosome problems, and Mitchell's group analysed the results for over 12,000 infants, comparing them to answers from the mothers of 7,600 infants without deformities. (madeformums.com)
Gastrointestinal1
- According to the March of musculoskeletal system, central nervous system (CNS), Dimes global report on birth defects, 6% occur annually gastrointestinal tract (GIT) and genitourinary system are with serious defects and 94% of these births occur in the most frequently affected ( 3 ). (who.int)
Occurs1
- In patients with partial defects, this occurs through the ostium primum atrial septal defect. (medscape.com)
Babies2
- His team worked with a large collection of date on babies born with birth defects between 1993 and 2010. (madeformums.com)
- The risk of an endocardial cushion defect among babies whose mothers did not take decongestants is about 3 per 10,000 live births. (madeformums.com)
Notably1
- Nearly all congenital defects have a systolic murmur - except most notably a patent ductus arteriosus (PDA), which has a characteristic continuous murmur. (bsavalibrary.com)
Infants2
- Major birth defects of any kind affect about two to three per cent of live born infants, so they are rare,' study author Dr. Allen Mitchell told Reuters. (madeformums.com)
- The associations we identified involved defects that generally affect less than 1 per 1,000 infants. (madeformums.com)
Commonly1
- citation needed] A defect in the ostium primum is occasionally classified as an atrial septal defect, but it is more commonly classified as an atrioventricular septal defect. (wikipedia.org)
Valve1
- Currently, there are limited options for treatment of valve disease, and therefore having a better understanding of valve development can contribute critical insight into congenital valve defects and disease. (springer.com)
Live births1
- In the United States, major structural or genetic birth defects affect approximately 3% of live births [ 1 ] and are responsible for 20% of infant deaths. (medscape.com)
Decongestants2
- Since the absolute risks for these rare birth defects are still very small, pregnant women should not be very worried after having used these drugs,' said Marleen van Gelder, an epidemiologist at Radboud University Nijmegen Medical Center in the Netherlands who was not involved in the study but has researched birth defects and decongestants before. (madeformums.com)
- Mitchell believes there's enough evidence indicating a possible connection to birth defects that doctors should not be recommending that pregnant women take decongestants, but should evaluate each woman's need for the drugs on a case-by-case basis. (madeformums.com)
Birth16
- There have many numerous lawsuits filed due to the fact that SSRI's have caused birth defects when pregnant women were taking them. (charlesboyk-law.com)
- Her son was then born with severe birth defects as a result. (charlesboyk-law.com)
- Johnson's son continues to experience issues, allegedly due to the Zoloft birth defects. (charlesboyk-law.com)
- If you took an SSRI while pregnant and now have a child suffering from birth defects, call our office at 800.637.8170. (charlesboyk-law.com)
- It is the most common type of birth defect in the United States and causes more deaths in the first year of life than any other type of birth defect. (demanddeborah.org)
- It is the most common type of birth defect. (pharmaceuticalintelligence.com)
- [ 2 ] Birth defects can affect persons across their lifespan and are the cause of significant lifelong disabilities. (medscape.com)
- CDC used the Healthcare Cost and Utilization Project (HCUP) 2013 National Inpatient Sample (NIS), a 20% stratified sample of discharges from nonfederal community hospitals, to estimate the annual cost of birth defect-associated hospitalizations in the United States, both for persons of all ages and by age group. (medscape.com)
- Birth defect-associated hospitalizations had disproportionately high costs, accounting for 3.0% of all hospitalizations and 5.2% of total hospital costs. (medscape.com)
- The estimated annual cost of birth defect-associated hospitalizations in the United States in 2013 was $22.9 billion. (medscape.com)
- Estimates of the cost of birth defect-associated hospitalizations offer important information about the impact of birth defects among persons of all ages on the overall health care system and can be used to prioritize prevention, early detection, and care. (medscape.com)
- Birth defects were identified through International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes 740.00-759.9. (medscape.com)
- for persons aged ≥1 year, this was not considered a birth defect. (medscape.com)
- Birth defects are the most common causes of infantile mortality, accounting for ~25% of all neonatal deaths. (who.int)
- Birth Defects: Original Article Series. (thoracickey.com)
- NEW YORK (Reuters Health) - A woman's use of decongestant medications in the first trimester of pregnancy may raise her child's risk of certain rare birth defects, according to a small study. (blogspot.com)
Left1
- In small to moderate VSDs, left-to-right shunting is primarily limited by the size of the defect. (medscape.com)