PRKAG2-associated hypertrophic cardiomyopathy

Mutations in the PRKAG2 gene lead to hypertrophic cardiomyopathy in combination with Wolff—Parkinson—White syndrome. The cause of the development of heart damage is the deposition of glycogen in the myocardium and the conduction system of the heart with a violation of the metabolism of adenosine monophosphate-activated protein kinase. A feature of PRKAG2 hypertrophic cardiomyopathy is progressive conduction disturbances with the development of atrioventricular blockade and ventricular preexcitation syndrome with a high frequency of paroxysmal supraventricular tachycardia against the background of additional atrioventricular fenestrations (Wolff—Parkinson—White syndrome). Progressive heart failure, high frequency of sudden cardiac death at a young age are characteristic. The features of diagnosis and treatment are considered.