Do sarcomere mutations worsen HCM prognosis?

Sarcomere mutations, especially MYH7 variants, are associated with earlier phenotypic expression, more severe hypertrophy, and higher SCD risk. MYBPC3 truncating variants have more variable penetrance.

What is genotype-negative HCM?

Genotype-negative HCM (no identifiable sarcomere mutation) has generally milder phenotype, lower SCD risk, and lower family transmission rates. Some cases represent phenocopies or undiscovered mutations.

How does genetic testing affect family screening?

A pathogenic sarcomere variant enables cascade genetic testing. First-degree relatives testing negative can be discharged from surveillance; those testing positive need periodic phenotypic monitoring.

HCM Sarcomere Mutation vs Non-Sarcomere Prognosis

Compare prognosis between sarcomere-positive HCM (MYH7, MYBPC3) and genotype-negative HCM in terms of SCD risk, phenotypic expression, and family screening implications.

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HCM Sarcomere Mutation vs Non-Sarcomere Prognosis

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Frequently Asked Questions

Do sarcomere mutations worsen HCM prognosis?

What is genotype-negative HCM?

How does genetic testing affect family screening?