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Genetic testing can identify immediate family at risk of HCM

  • July 24, 2022
  • Number of views: 887
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As an inherited disease, HCM can run in families—and it can develop at any age. In many instances, HCM is undiagnosed until a significant heart problem occurs. When that happens, genetic testing for the patient and the immediate family can help to clarify the cause of symptoms and offer care options for others in the family who may be at risk. Screening often includes an echocardiogram and genetic testing. 

Washington University cardiologist Sharon Cresci says, “Screening can identify whether other family members carry a disease-causing genetic variant of HCM before the disease develops.” She adds that the decision to undergo screening should be a shared decision among family members. “We work with the family so they understand the genetic nature of the disease and the possible implications of any test results.”

Currently, Cresci and colleagues are engaged in research to better diagnose and understand HCM. She is the principal investigator of an ongoing Washington University observational study that to date has enrolled more than 1,000 patients and family members. The aim is to better identify markers of the onset, progression and prognosis of HCM, as well as to identify other disease-associated genetic variants. 

Referring Patients to the Hypertrophic Cardiomyopathy Center

The Washington University Hypertrophic Cardiomyopathy Center is accredited by the National Hypertrophic Cardiomyopathy Association and has a dedicated multidisciplinary team of HCM specialists, including cardiologists, genetic cardiologists, electrophysiologists and cardiothoracic surgeons, as well as a team of experienced imaging specialists and nurses. Services include:

  • Genetic testing
  • Advanced cardiac imaging
  • Electrophysiology evaluations
  • Medical, non-surgical and surgical interventions
  • Athlete screenings
  • Counseling

To refer a patient to the center, call: 314-362-1963.

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