Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy

Bonanni, Francesca; Del Franco, Annamaria; Setti, Valeria; Casini, Matteo; Salvi, Samuele; Panichella, Giorgia; Garofalo, Manuel; Barbagallo, Andrea; Crucinio, Ivana; Gozzini, Alessia; Ballerini, Adelaide; Targetti, Mattia; Biagioni, Giulia; Cappelli, Francesco; Pieroni, Maurizio; Girolami, Francesca; Olivotto, Iacopo

doi:10.1016/j.jacadv.2025.101730

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.

Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy / Bonanni, F., Del Franco, A., Setti, V., Casini, M., Salvi, S., Panichella, G., Garofalo, M., Barbagallo, A., Crucinio, I., Gozzini, A., Ballerini, A., Targetti, M., Biagioni, G., Cappelli, F., Pieroni, M., Girolami, F., Olivotto, I.. - In: JACC. ADVANCES. - ISSN 2772-963X. - ELETTRONICO. - 4:(2025), pp. 1-10. [10.1016/j.jacadv.2025.101730]