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Cardiovascular Genetics

Genetics and Heart Disease

Identifying at-risk patients and family members is often lifesaving. An estimated 1:70 individuals in the general population are estimated to carry monogenic cardiovascular disease.

Are some heart diseases more likely to be inherited?

Example of Heart DiseaseEstimated percentage of disease due to inherited genetic mutation
Hypertrophic cardiomyopathy40-60%
Dilated cardiomyopathy20-50%
Arrhythmogenic cardiomyopathy50-65%
Long QT Syndrome75-85%
Brugada Syndrome20%
Aortic aneurysm and dissection30%
Familial Hypercholesterolemia60-80%

Did You Know?

  • All major cardiology guidelines recommend the broad use of cardiovascular genetic testing, including The American College of Cardiology (ACC), The American Heart Association (AHA), The Heart Failure Society of America (HFSA), and The Heart Rhythm Society (HRS)
  • Familial hypercholesterolemia is one of the most common inherited cardiac conditions yet is highly underdiagnosed. It is estimated that 34 million people worldwide, or 1:250 individuals, have a diagnosis of familial hypercholesterolemia, however 90% remain undiagnosed. A genetic diagnosis of familial hypercholesterolemia can lead to the opportunity for preventive treatment.
  • Nearly 50% of all cardiomyopathy cases in the United States are inherited, but only 1% of cardiomyopathy patients get genetically tested. Genetic testing can save lives!
  • There is a 50% chance of inheriting an autosomal dominant cardiovascular disorder.
  • Cardiovascular disease is the leading cause of death for adults in the United States, resulting in one death every 33 seconds, according to the Centers for Disease Control and Prevention.
  • Each year in the United States, approximately 210,000 die suddenly and unexpectedly due to sudden cardiac arrest. Prevention matters.

Possible test results:

 Positive result: Diagnostic of hereditary heart disease/condition. Consider family follow up genetic testing.
 Negative Result: No genetic mutation identified, often does not rule out clinical condition. Patients may still be at risk due to personal or family history.
 Variant of unknown significance: At least one genetic variant was found, but it is unclear if this change causes the cardiovascular disorder or not. Variant classification may change as more information is learned over time.

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