Which genes cause hypertrophic cardiomyopathy?

MYH7 and MYBPC3 account for 50–60% of HCM. Other genes include TNNT2, TNNI3, TPM1, ACTC1, and MYL2/3. Pathogenic sarcomere variants are found in ~40–60% of familial HCM.

What is the risk of DCM in first-degree relatives?

Familial DCM occurs in 20–50% of cases. Risk stratification uses gene (LMNA, RBM20, SCN5A carry highest arrhythmia risk) and phenotypic features like LBBB and AV block.

Hereditary Cardiomyopathy Genetic Risk Assessment

Assess pre-test probability and phenotype severity for hereditary cardiomyopathies (HCM, DCM, ARVC) based on gene variant type (sarcomere, desmosome, cytoskeletal), family history, and phenotype features.

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Hereditary Cardiomyopathy Genetic Risk Assessment

Frequently Asked Questions

Which genes cause hypertrophic cardiomyopathy?

What is the risk of DCM in first-degree relatives?