Desmin-related cardiomyopathy in a young woman presented with an infra-Hisian atrioventricular block

A 17-year-old woman was admitted due to a complete atrioventricular block. Comprehensive analytic and imaging studies were conducted to determine the aetiology. Cardiac magnetic ressonance imaging revealed concentric hypertrophy of the left ventricle and diffuse intramural late enhancement gadolinium. Genetic testing identified a heterozygous pathogenic variant in the desmin gene. To manage atrioventricular block, a dual-chamber pacemaker was implanted. During follow-up, no spontaneous ventricular activity was detected.