Genetic Counseling and Testing for Congenital Heart Disease
Some patients may have congenital heart disease (CHD) related to a genetic condition. Knowing if a patient has a genetic condition is important in order to improve their healthcare treatment. It also helps patients understand the possible risks to other people in their family.
Frequently Asked Questions
-
What are genes?Show
-
Genes are packages of genetic information that tell our bodies how to develop and function.
-
How is genetic testing performed?Show
-
This type of testing is done by a blood, saliva or tissue sample that is sent to a lab to be processed. Results are then shared with your physician or genetic counselor.
-
Who is a candidate for genetic testing?Show
-
Patients with the following issues may benefit from a genetic test:
- Problems with growth such as short stature
- Another type of birth defect in addition to a congenital heart defect
- Hearing loss or major problems with vision
- Learning disabilities or developmental delay
- Conditions that don’t have a known cause such as a major kidney problem, a thyroid disorder or a mental health diagnosis
- A family history of congenital heart disease
Patients with a heart defect or parents of a child with a heart defect may benefit from genetic counseling to discuss the potential risk of heart defects in future children or other family members.
-
What’s the likelihood that a congenital heart defect will be passed to someone in my family?Show
-
The exact cause of most congenital heart defects is unknown. Most congenital heart defects are likely due to a combination of multiple genetic and environmental factors.
Individuals with a CHD have a higher chance of a heart defect happening again in the family.
The exact chance ranges from 3-50% and depends on the specific type of defect, family history and genetic testing results (if tests have been completed).
Cardiac Screening
Cardiac screening, specifically an echocardiogram, may be recommended for family members of those patients with congenital heart disease.
Specifically, if you have a parent, sibling or child with a left-sided heart defect such as a bicuspid aortic valve, aortic stenosis or hypoplastic left heart syndrome, they should be offered a screening or an echocardiogram.
You should talk to your doctor about whether cardiac screening might be important for you or your family members.