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Grand Rounds | Clinician's Corner

Use of Genetics in the Clinical Evaluation of Cardiomyopathy

Daniel P. Judge, MD
JAMA. 2009;302(22):2471-2476. doi:10.1001/jama.2009.1787.
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Inherited forms of cardiomyopathy are frequently responsible for heart failure that is otherwise unexplained. Evaluation of familial cardiomyopathy should include not only the individual patient, but also the pattern of inheritance within the family and assessment for the presence of syndromic features. The last 10 years have seen remarkable advances in genetics. Improvements in technology have lowered costs, such that clinical use of genetic testing is rapidly expanding. Genetic counseling about the potential risks and benefits of such testing is an important part of the care of individuals and families with inherited heart disease. Among inherited types of cardiomyopathy, the likelihood of finding a responsible gene mutation varies. Both hypertrophic and right ventricular forms of cardiomyopathy have a relatively high likelihood of finding a responsible gene mutation when testing is properly applied. Because of prominent genetic heterogeneity in familial dilated cardiomyopathy, recognition of pathogenic mutations is more challenging. With or without genetic testing, screening of family members who are at risk for an inherited form of cardiomyopathy leads to earlier identification, earlier treatment, and improved outcomes.

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Figure 1. Pedigree for Dilated Cardiomyopathy (DCM) Family
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Figure 2. Pedigree for Hypertrophic Cardiomyopathy (HCM) Family
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Results of genetic testing are shown for family members who had this testing. P in p.G82R indicates protein. Documented evaluation (ie, echocardiography or electrocardiography) yielded results for normal left ventricular wall thickness (white) or hypertrophic cardiomyopathy (black).

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