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Diseases

Genetic and Rare Diseases Information Center (GARD)

Familial hypertrophic cardiomyopathy


Other Names for this Disease
  • Asymmetric septal hypertrophy
  • Hereditary ventricular hypertrophy
  • Idiopathic hypertrophic subaortic stenosis
  • Cardiomyopathy familial hypertrophic
  • Heritable hypertrophic cardiomyopathy
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

Is genetic testing available for familial hypertrophic cardiomyopathy?

Yes. Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in any of several known genes, and possibly other genes that have not yet been identified.[1] Genetic testing for HCM is most informative as a "family test" rather than a test of one person. Results are most accurately interpreted after merging both genetic and medical test results from multiple family members. Ideally, the family member first having genetic testing should have a definitive diagnosis of HCM and be the most severely affected person in the family. Genetic testing of at-risk, asymptomatic relatives is possible when the responsible mutation has been identified in an affected family member. Testing should be performed in the context of formal genetic counseling.[2]

An algorithm showing a general approach to finding the specific genetic cause in people with HCM can be viewed here.

The Genetic Testing Registry (GTR) provides information about the genetic tests for familial HCM. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

As is often the case with genetic testing in general, there are benefits and limitations of genetic testing for familial HCM. Testing may confirm the diagnosis in a person with symptoms, and may help to identify family members at risk. However, results are sometimes unclear; testing cannot detect all mutations; and results cannot be used to predict whether a person will develop symptoms, age of onset, or long-term outlook (prognosis).[2]
Last updated: 11/30/2015

References
  1. Familial hypertrophic cardiomyopathy. Genetics Home Reference. August, 2015; http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy.
  2. Allison L Cirino and Carolyn Ho. Hypertrophic Cardiomyopathy Overview. GeneReviews. January 16, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1768/.


Testing

Other Names for this Disease
  • Asymmetric septal hypertrophy
  • Hereditary ventricular hypertrophy
  • Idiopathic hypertrophic subaortic stenosis
  • Cardiomyopathy familial hypertrophic
  • Heritable hypertrophic cardiomyopathy
Related Diseases
  • Myosinopathies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.