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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
645 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...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

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Why are av canal defects associated with?Down syndrome?

Why are av canal defects associated with?Down syndrome?

Patterns: The extra chromosome in every cell causes confusion in the formation of every complex organ system of the body. The heart is quite complex, and the AV canal defect is more or less a failure of the heart to complete itself (the walls between chambers form near the end of the normal process).The pattern of facial features, hand features, etc all represent this pattern of interference in formation. ...Read more

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What will be done for a ?Child with Down syndrome and ventricular septal defect ?

What will be done for a ?Child with Down syndrome and ventricular septal defect ?

Repair the defect : The approach to and reasons for repair for a ds kid is the same as for any other. The projected lifespan of a ds child with proper medical care for their main problems is >60 years. With holding care from such a child would violate federal "baby doe" statutes and place the licenses of any personnel involved at risk. Child & family services of the involved state would also become involved. ...Read more

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I want to know what the future holds for a child with Down syndrome and ventricular septal defect ?

I want to know what the future holds for a child with Down syndrome and ventricular septal defect ?

Varies: As one of the less complex heart defects in ds this is usually amenable to the same repair procedures as any other kid with a vsd.After repair, it does not have a significant impact on the ds projected lifespan of >60 yrs. ...Read more

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If you have 2 healthy children, does that lower your chances of having a child with Down syndrome or other birth defect?

If you have 2 healthy children, does that lower your chances of having a child with Down syndrome or other birth defect?

Rolling the dice: A woman can give birth to a ds infant at any age. The frequency varies with age @ 1/1500 from 15-29, 1/100 @40-45 and 1/50 over 45.There are some non specific screening tests available early in pregnancy to see if it is more likely, but examination of fetal cells for a chromosome count is the most accurate. ...Read more

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Av canal defect, can this cause down syndrome?

Other way around: Atrioventricular (av) canal defect is a relatively common congenital heart defect in children born with down syndrome. Down syndrome "causes" av canal defects, not the other way around. Av canal defect is a major congenital anomaly with the potential to cause severe symptoms. However, in most cases, av canal defect can be repaired. High levels of surgical skill is important for best outcomes. ...Read more

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Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?

Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?

Depends on the : Degree of low muscle tone ( hypotonia) that is present in a fetus with down syndrome ; the size (smallness for gestational age) of the fetus. Some mothers of infants with ds say they felt less fetal movement than from their non-ds fetuses; others say their fetus with ds was a good " kicker." there is a range of hypotonia in infants with ds, just as there is a range of cognitive ability. ...Read more

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What do you do about an av canal defect in a child with ?Down syndrome ?

What do you do about an av canal defect in a child with ?Down syndrome ?

Surgey: The timing of repair depends on the health of the child and the degree of the defect. Your cardiologist and surgeon can discuss these options in more detail. ...Read more

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How do I make a punnutt square for Down Syndrome. Yes, it's a chromosome defect, but it can also be inherited. answer asap. Thanks!

See below: Approximately, 92-94% of cases of Down syndrome is the result of nondisjunction of chromosome during the meiosis process. Only 4% of cases are inherited from the faulty chrosome, i.e., translocation. ...Read more

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If your are infected with chlamydia, can that cause birth defects in the child? Even if i get treatment to cure it. Could it cause down syndrome?

If your are infected with chlamydia, can that cause birth defects in the child? Even if i get treatment to cure it. Could it cause down syndrome?

Only if untreated.: Chlamydia infection is of no risk to the fetus if treated properly (that includes your sexual partner). It has nothing to do with down syndrome. If left untreated or undiagnosed or recurrent at the time of delivery then ophthalmia neonatorum with trachoma can develop with severe consequences for the infant's eyesight. That's why Erythromycin ointment is applied to all newborns' eyes prophylactical. ...Read more

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Endocardium (Definition)

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