Case The case features a 43-year old woman who was found to have the Dutch PLN R14del founder mutation during familial genetic screening.1 Because of ventricular tachycardias, she received an internal cardioverter defibrillator (ICD) as secondary prophylaxis. Before ICD implantation, a CMR was performed which showed biventricular dilatation and a reduced biventricular function with midwall […]

Case: The following example shows the typical findings of RV deformation imaging during the preclinal stage of  arrhythmogenic cardiomyopathy (or ARVC) The case features a 20-year-old girl that underwent cardiac evaluation in the out-patient clinic. Her brother was recently diagnosed with ARVC based on a proven pathogenic mutation in the Plakophillin-2 (PKP2) gene. She was […]

Case: The following example shows the typical findings of RV deformation imaging in severe arrhythmogenic cardiomyopathy  (or ARVC) The case features a 55-year-old male who was diagnosed with ARVC fifteen years ago. The genetic substrate was found to be a pathogenic desmosomal mutation (DSG2). His exercise tolerance is slowly decreasing over the last couple of […]

The following example shows the typical findings of left ventricular involvement in Arrhythmogenic Cardiomyopathy (AC), also known as Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD/C). The case features a 18 year old boy who recurrently collapsed playing field hockey. He was admitted with palpitations. The ECG showed a sustained ventricular tachycardia with a left bundle branch block (LBBB) […]