Cardiovascular Genetics Program Frequently Asked Questions (FAQ)

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What does "congenital" mean?

"Congenital" describes any condition that exists at birth. Many congenital conditions are not identified until days, weeks, months or even years after a baby is born.

What is congenital heart disease?

Congenital heart disease (CHD) refers to differences in the heart's structure or function that occur during development.

A common structural problem is an atrial septal defect (ASD), a hole in the heart between the atria, or top two chambers of the heart.

A common functional problem is cardiomyopathy, a set of disorders that cause the heart's wall muscles to become either too thick, too thin, or too stiff.

What causes congenital heart defects?

About one out of every 100 babies born has a congenital heart defect. In most cases, it’s not possible to identify a specific factor that caused the problem. Among the known causes of congenital heart defects are genetic factors, environmental conditions (e.g., a mother's exposure to certain prescription medications, chemicals, or maternal diseases) and a combination of both genetic and environmental factors.

What is cardiovascular genetics?

Cardiovascular genetics examines the relationship between genetics and its effect on the heart's anatomy and function. We seek to identify which genes are the primary players in building the heart and its blood vessels.

Could congenital heart disease happen again in my family?

In some families, a heart defect might be identified in only one person. In other families, heart defects may occur in multiple family members. In either case, genes, environmental factors or both can play a role. It's the role of the cardiovascular genetics clinic to sort out whether environmental conditions could reasonably explain the occurrence/recurrence, if genes are a more likely explanation, or if it is some combination of the two.

Which services are appropriate for my child?

If the diagnosis is still uncertain at the end of the visit, we may recommend specific laboratory studies.

What is involved in care planning?

The clinic team will make specific recommendations about long-term follow-up including frequency of follow-up visits, testing and subspecialty consultations.

Who might be on my child's care team?

Your child's care team will depend on her diagnosis and specific issues involved. These might include specialists in cardiology and genetics, as well as other medical, surgical, behavioral and mental health providers.

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The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
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