To investigate a 5-generation Chinese Han family with PRKAG2 cardiac syndrome resulting from mutations in the PRKAG2 gene encoding the AMP-activated protein kinase (AMPK) gamma 2 subunit and the treatment of myocardial hypertrophy in patients with PRKAG2 cardiac syndrome.

In this study, a 5-generation Chinese Han family (n = 40) with complete atrioventricular block and asymmetric interventricular septal hypertrophy was taken as the research object, and the DNA were obtained from 30 of them (6 patients and 24 normal persons). Objective gene capture combined with high-throughput sequencing technique was used to detect the genes of family members. After the gene diagnosis was confirmed, the cardiac data of patients taking beta-blockers in this family were analyzed retrospectively with the average annual increase in thickness of interventricular septum (expressed in mm/year) as an index.

A total of 6 family members were associated with PRKAG2 (c.905G>A; pR302Q) heterozygous variation. The phenotype of pedigree patients is characterized by complete atrioventricular block and asymmetric interventricular septal hypertrophy, which has high homogeneity. No syncope occurs after implantation of permanent pacemaker, but atrial flutter and atrial fibrillation occur. The 5 patients with PRKAG2 cardiac syndrome in the family took beta-blockers for a long time, and the progress of cardiac hypertrophy was significantly delayed.

Our results suggest that the possibility of PRKAG2 mutations should be considered in patients with complete atrioventricular block and asymmetric interventricular septal hypertrophy, and that prompt implantation of pacemakers and long-term use of beta blockers may improve the prognosis of PRKAG2 cardiac syndrome patients.