Miry Blich, Yaniv Zohar, Victoria Cohen-Kaplan, Irina Minkov, Rabea Asleh, Smadar Horowitz, Karin Weiss, Tamar Paperna, Jonathan Lessick, Sobhi Abadi, Asaad Khoury, Lior Gepstein, Mahmud Suleiman, Oren Caspi
INTRODUCTION: Arrhythmogenic cardiomyopathy (AC) is an inherited cardiomyopathy characterized by fibro-fatty replacement of cardiomyocytes, leading to life-threatening ventricular arrhythmia and heart failure. Pathogenic variants of desmoglein2 gene (DSG2) have been reported as genetic etiologies of AC. In contrast, many reported DSG2 variants are benign or variants of uncertain significance. Correct genetic variant classification is crucial for determining the best medical therapy for the patient and family members...
February 20, 2024: Pacing and Clinical Electrophysiology: PACE