Yafeng GUO, Dong YI, Daoquan LIU, Qingkun FAN, Zhaokun MA, Li WANG, Hongxu CHEN, Bingyin WANG, Hua YAN
The Anatolian Journal of Cardiology - 2026;30(4):0-0
A 19-year-old male presented to the hospital with chest pain and recurrent syncope. Electrocardiogram and Holter monitoring demonstrated right bundle branch block, left anterior fascicular block, intermittent ventricular pre-excitation, and left ventricular hypertrophy. Echocardiography revealed uniform hypertrophy of the interventricular septum and left ventricle. Cardiac magnetic resonance imaging demonstrated biventricular hypertrophy, with evidence of myocardial edema, injury, and fibrosis in hypertrophied regions. Based on these initial findings, a preliminary diagnosis of hypertrophic cardiomyopathy was made. Clinical whole-exome sequencing (WES) identified a heterozygous missense rare variant in the PRKAG2 gene. The patient was definitively diagnosed with PRKAG2 cardiac syndrome.
