Genetic causes are implicated in 15-25% of children with heart defects. These causes include whole chromosome abnormalities, or aneuploidy, (e.g. Down syndrome, trisomy 18, Turner syndrome) as well as smaller structural chromosomal abnormalities (e.g. 22q11deletion syndrome). Congenital heart defects may also be a part of a single gene condition, such as Noonan and William syndromes.
Recent advances in technology are leading to rapid new insights into the causes of a wide array of structural and functional heart diseases.
Heart Center Cardiac Genetics Program
The Heart Center Cardiac Genetics Program at Primary Children’s Medical Center is a multidisciplinary service provided by Intermountain Healthcare and the University of Utah aimed at bringing evolving genetic knowledge into clinical care.
We specialize in the management of families and patients who have been diagnosed with, or are at risk to develop, a heritable cardiovascular condition. Our goal is to incorporate patient genetic information into personalized risk, management, and screening guidelines. We are also available to make referrals to other healthcare specialties, when appropriate. Our team is comprised of a pediatric cardiologist, clinical geneticist and board certified genetic counselor.
An evaluation includes:
- An in-depth family history.
- Medical history and physical examination by a medical geneticist.
- Recommendations for screening and management for both the patient and at-risk family members based on the genetic risk-assessment.
- Identification and facilitation, if warranted, of available, appropriate genetic testing.
- Post-test counseling including discussion of the genetic test result implications and how they may change screening and management.
- Referrals to local and national support groups and resources
What to Expect During Your Visit
Your first visit will include appointments with several specialists including a genetic counselor, a clinical geneticist, and a cardiologist. They will review your past medical history, family history, and a targeted physical examination will be performed.
Depending on specific needs, electrocardiogram or cardiac imaging (e.g. echocardiography) may also be requested. Plan on a visit of up to 2 hours.
Because the family history can be an important tool in accessing genetic risk, it is helpful to collect information about other family members with cardiovascular disease before your appointment. This includes:
- The family member’s cardiovascular diagnosis and at what age they were diagnosed.
- Any heart related procedures any family member has had.
- Age and cause of death for any deceased family members.
- Which family members have had cardiac screening (i.e. echocardiograms).