Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy

Background A substantial proportion of hypertrophic cardiomyopathy (HCM) patients and negative genetic testing (Sarc−) have a positive family history of HCM (FH), suggesting a stronger genetic component. Objectives The purpose of this study was to assess whether Sarc−/FH+ patients differ from Sarc−/FH− and gene-positive (Sarc+) patients in terms of phenotype and prognosis. Methods Six hundred fifty-four HCM patients underwent comprehensive clinical assessment and genetic testing, followed for a median of 6 years. The 3 groups (Sarc−/FH−, Sarc−/FH+, Sarc+) were compared for major arrhythmic events, heart failure, all-cause death, atrial fibrillation, and stroke.