Figure 1.

Figure 1.

Familial hypertrophic cardiomyopathy: Algorithm for genetic testing and clinical cardiac screening


1. No important variants detected. Genetic disease cannot be excluded. Consider retesting the person who best meets diagnostic criteria when new genes/tests are available.

2. Provide feedback to genetic testing laboratory regarding results of segregation study.

3. See Table 4. Guidelines for Clinical Screening of Healthy At-Risk Family Members (Note: These guidelines apply both to relatives in whom a pathogenic variant has been identified and to asymptomatic first-degree relatives (adults and children) of an individual with primary HCM in whom a pathogenic variant has not been identified.

From: Hypertrophic Cardiomyopathy Overview

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