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Wednesday, December 7, 2016
Inherited Disorders and Birth Defects
Hypoplastic Left Heart-genetic?
My first child died at 13 mos. from Hypoplastic Left Heart. I have other children now, with the exception of a son with a heart murmur, they are fine. Is this genetic? Do they have an increased chance of their children having this or other heart defect because their brother did?
A congenital heart defect is one of the most common birth defects seen - affecting about 7 in 1,000 newborns. A hypoplastic left heart occurs when the left side of the heart, specifically the ventricle (the lower pumping chamber of the heart), does not develop properly during fetal development.
If the heart defect is an isolated problem, that is, there are no other problems present, then it is usually considered to be sporadic - not inherited in a specific pattern, although there may be some genes coding for the birth defect. However, if the child also has other birth defects along with the hypoplastic left heart, there may be a specific genetic cause responsible for the child's problems, such as a chromosomal problem or genetic syndrome. There are a few syndromes and some chromosome abnormalities that can have a hypoplastic left heart defect as part of the syndrome.
From your description, the only birth defect your child had was the hypoplastic left heart. If this is correct, then the chance that your other children might have children themselves with heart defects is probably low. We know that there is some genetic contribution to the development of isolated heart defects which can then run in families - but not in a specific pattern or with a specific recurrence risk. There continues to be a great deal of research looking for specific genes that might cause a specific type of heart defect - but none has been found at this time.
Your question is a good one. I would suggest that you, or your children when they are older and start to think about having a family, see a genetic counselor or geneticist to discuss this in detail. The genetic counselor could give you more specific information based on your family history and what your children's chances would be of having children with similar problems as their brother. This would also give you an opportunity to hear about the latest research findings and how that might affect your family specifically.
You can locate a geneticist or genetic counselor in your area by looking at the `Resources` area on the National Society of Genetic Counselors website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University