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Doctor insights on: Endocardial Cushion Defect Down Syndrome

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Looking for Down syndrome due to endocardial cushion defect. Why?

Looking for Down syndrome due to endocardial cushion defect. Why?

Very common problem : Endocardial cushion defects are often seen in down syndrome. If it is detected prenatally, you would want a test to check if the baby has down syndrome. ...Read more

Dr. Kathryn Akin
641 doctors shared insights

Down Syndrome (Definition)

Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more


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What sort of disorder is an endocardial cushion defect?

What sort of disorder is an endocardial cushion defect?

AV canal: Also known as an av canal, or atrio-ventricular septal defect, it is a type of congenital heart defect. There is a an ASD and vsd together creating a defect in the center of the heart. There is also one common av valve , rather than 2 distinct valves (mitral and tricuspid valves). It is commonly but not necessarily associated with down syndrome. Surgical repair is required in infancy. ...Read more

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Is endocardial cushion defect considered a heart disease?

Is endocardial cushion defect considered a heart disease?

Yes: Unfortunately the names for some defects are confusing. Endocardial cushion defect is an older term. Atrioventricular canal is also an older term for the same entity. The current term for this defect is atrioventricular septal defect and is often abbreviated as avsd. ...Read more

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Is an endocardial cushion defect considered heart disease?

Is an endocardial cushion defect considered heart disease?

Yes: These are problems in the middle of the heart affecting the valves and usually requiring surgery to repair. ...Read more

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What to do if I had surgery to correct what the doctors called endocardial cushion defect, would this be considered a form of heart disease, or just a defect?

What to do if I had surgery to correct what the doctors called endocardial cushion defect, would this be considered a form of heart disease, or just a defect?

Endocardial defect: Endocardial cushion defect is a hole in the heart. Repair of it may leave you in very good shape but some kinds of cushion defect still leave you with problems after repair. You should discuss with the doctor(s) who know your exact situation. ...Read more

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What are the symptoms of endocardial cushion defects?

What are the symptoms of endocardial cushion defects?

CHF. : Endocardial cushion defects or a-v canal defects cause a significal left to right intra-cardiac shunt. Increased blood flow to the lungs cause CHF symptoms like increased breathing, failure to thrive, difficulty feeding. ...Read more

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What is the definition or description of: Endocardial cushion defects?

What is the definition or description of: Endocardial cushion defects?

AV septal defects: 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. A complete AV septal defect indicates the presence of both atrial and ventricular septal defects with a common AV valve. ...Read more

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Is Down syndrome always caused by a defect in the 21 chromosome?

Is Down syndrome always caused by a defect in the 21 chromosome?

Extra chromosome 21.: Either complete or partial trisomy for chromosome 21 is always responsible for down syndrome. ...Read more

Endocardium (Definition)

The endocardium is the tissue that serves as inner ...Read more