Cardiac phenotype characterization at magnetic resonance imaging in alpha-protein kinase 3-associated hypertrophic cardiomyopathy.

ABSTRACT:

Background

Alpha-protein kinase 3 (ALPK3) was recently identified as a candidate gene associated with hypertrophic cardiomyopathy (HCM). However, clinical data regarding carriers of ALPK3 variants are limited. Therefore, this study amied to evaluate the prevalence of heterozygous ALPK3 variants in adult patients with HCM and to elucidate the phenotypes of individuals harboring these variants.

Methods

575 consecutive patients diagnosed with HCM who underwent 3T cardiovascular magnetic resonance (CMR) imaging and whole-exome sequencing genetic testing were recruited. Patients harboring ALPK3 rare missense variants (minor allele frequency < 0.0005) or truncating variants were considered genotype-positive.

Results

Among the 575 included patients (65.0% [374/575] male; med

SUBMITTER: Pu L 

PROVIDER: S-EPMC12673200 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature