September 18, 2025GenesOpen Access

Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort

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Discussion

Prospective cohort showed genetic testing links to clinical HCM outcomes and family history of sudden cardiac death.

Genetic testing revealed P/LP variants in 31% of participants with clinical HCM or family history.
Positive genotypes were significantly more common in individuals with clinical HCM (37.7%) than those with only family history (18.6%).
Interventricular septal thickness over 17 mm was associated with positive genetic results, indicating potential risk.
Familial history of sudden cardiac death correlated significantly with the presence of positive genetic variants.

Santos et al. (2025) studied this question.

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