Cardiovascular Genetics Services

Inherited heart disease is common, affecting 1 in 200 people. If you have a personal or family history of heart disease, genetic counseling and testing can help clarify a diagnosis and guide treatment. Genetic testing can even help prevent serious heart events by identifying effective screening and treatment. It can also help predict future risks for you or family members to ensure appropriate treatment.

Who Is Cardiovascular Genetic Testing For?

We see adults or parents of children with a personal or family medical history of cardiac disease, including:

  • Unexplained sudden cardiac arrest or death, especially at under 50 years of age
  • Untreated LDL cholesterol that is above 190 mg/dL or a family history of high cholesterol
  • Cardiomyopathy, an enlarged heart
  • Heart failure before age 60
  • An implanted cardiac defibrillator or pacemaker before age 50
  • Specific diagnoses, including hypertrophic cardiomyopathy, dilated cardiomyopathy, amyloidosis, Long QT syndrome, Brugada syndrome or Marfan syndrome
  • The same cardiac diagnosis in two or more close relatives
  • Marfan syndrome and related connective tissue disorders
  • Familial thoracic aneurysms (TAAD) or other aneurysms
  • Ehlers Danlos Syndrome
  • A history of congenital heart defects
  • A known familial mutation relating to one of the conditions above or other cardiovascular disease

How Our Doctors Are Making a Difference

Medical geneticist Apostolos (Paul) Psychogios, MD, cares for patients with many genetic diseases, some of them rare. He explains that every patient is unique, and he tailors their care to their condition.

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PRS Tests

We have a strong clinical and research interest in preventing coronary artery disease, which involves the buildup of fats and cholesterol in arteries. As part of our approach to comprehensive care, we offer a cardiac polygenic risk score (PRS).

PRS is a genetic test that looks for many lower-impact genetic changes, or mutations. A single mutation may not significantly affect disease risk. But when mathematically combined in a PRS, these variants can have a meaningful effect on the risk for a condition such as coronary artery disease or atrial fibrillation.

PRS results can be especially useful in managing:

  • Borderline or mildly elevated cholesterol levels
  • A strong family history of coronary artery disease
  • A strong family history of atrial fibrillation
  • Concerns about type 2 diabetes

If you have questions about any of our services or are interested in scheduling an appointment, please call 818-748-4748 or email our program.