Genetic tailoring of electrophysiological management in hypertrophic cardiomyopathy

Abstract

We herein report an unusual case of a patient with a rare phenocopy of hypertrophic cardiomyopathy (HCM) by mutation of the PRKAG2 gene with indication to defibrillator implantation. PRKAG2 syndrome is a rare disease distinguished by ventricular pre-excitation, cardiac hypertrophy and chronotropic incompetence with advanced heart blocks. The purpose of this case is to emphasize the fact that HCM represents a spectrum of heterogeneous diagnoses requiring precise identification. Appropriate differential diagnoses of rare phenocopies may help reach the correct diagnosis allowing personalized management and avoiding potential mistakes in prevention of sudden cardiac death.