The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.

ABSTRACT:

Aims

To assess the combined prognostic value of genotype and late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) patients, including those with preserved left ventricular ejection fraction (LVEF).

Methods

In 135 HCM patients (age 52.43 ± 11.35 years, 79.26% male), whole-exome sequencing, echocardiography, and cardiac magnetic resonance (CMR) were performed. Major adverse cardiovascular and cerebrovascular events (MACCEs, e.g., cardiac death, progressive heart failure, sustained ventricular tachycardia/ventricular fibrillation, ICDs implantation, stroke, syncope, and atrial fibrillation) were analyzed over a median 15-month follow-up (IQR 9-36 months).

Results

Pathogenic/likely pathogenic variants (G+) were identified in 50 (37%) patients, and LGE (L

SUBMITTER: Su W 

PROVIDER: S-EPMC12277264 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature