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"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.
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.
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.
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.
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.
If the diagnosis is still uncertain at the end of the visit, we may recommend specific laboratory studies.
The clinic team will make specific recommendations about long-term follow-up including frequency of follow-up visits, testing and subspecialty consultations.
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.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”