A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.

ABSTRACT:

Background

Malignant hypertrophic cardiomyopathy (HCM) phenotypes have potential risks of severe heart failure, fatal arrhythmia, and sudden cardiac death. Therefore, it is critical to predict the clinical outcomes of these patients. It was reported recently that the alpha kinase 3 (ALPK3) gene was involved in the occurrence of HCM. Herein we reported a girl with HCM, while whole-exome sequencing found novel compound heterozygous variants in ALPK3 gene, which identified a potential association.

Case presentation

We reported a 14-year-girl who suffered from clinical manifestations of cardiac failure, with sudden cardiac arrest before admission. The heartbeat recovered after cardiopulmonary resuscitation, though she remained unconscious without spontaneous breath

SUBMITTER: Li T 

PROVIDER: S-EPMC10311070 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature