Genetic Evaluation & Counseling for Heart Conditions

We offer genetic testing for congenital heart disease and counseling for families at risk of genetic heart conditions, including Marfan syndrome.

Genetics can play a major role in congenital heart disease. To help families who want to assess a genetic risk or learn more about a condition’s genetic component, we offer both testing and counseling, as well as treatment.

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What Is Genetic Evaluation?

Genetic evaluation can answer questions about the genetic causes of congenital heart disease or other related conditions. Certain conditions, such as cardiomyopathy (a disease that affects the heart muscle), run in families.

Genetic specialists can help parents determine the chance of passing a condition on to future children. Getting evaluated by a clinical geneticist involves:

  • Assessment of your medical history
  • Discussion about your family tree
  • A physical examination
  • Discussion about possible diagnosis and testing options
  • Genetic counseling, to help you make decisions about genetic testing

After your genetic evaluation, you may opt for specific genetic testing. Genetic testing involves a laboratory examination of a sample of your genetic material. We will explain your genetic test results and review your treatment options.

Why Choose Us for Genetic Evaluation?

We work with families to help answer genetic questions and figure out next steps. We offer:

  • Experienced, compassionate team: Specialists in genetics, fetal diagnosis, congenital heart disease and hypoplastic left heart syndrome (HLHS) work together to provide families the diagnosis and treatment information they need. We try to make the experience of seeing specialists within Joe DiMaggio Children’s Hospital feel seamless for families.
  • Congenital heart care: When you’re looking for treatment for your child or anyone in your family who has been diagnosed with a congenital heart condition, know that our heart team has experience treating a wide range of conditions. Our cardiac surgeons, congenital heart cardiologists, pediatric heart failure specialists and heart imaging specialists treat children of all ages. We also have an adult congenital heart disease program.
  • Specialty in Marfan syndrome (MFS): Marfan is a connective tissue disorder that can affect the eyes, bones and heart. MFS affects about 1 in 5,000 people. About 75 percent of people who have it inherited it from a parent. We offer specialized testing for Marfan and a variety of ways to treat it. Learn more about Marfan syndrome.

Call us for more information or to schedule an appointment

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