A decade apart: Arrhythmogenic right ventricular cardiomyopathy unmasked in a young woman with pituitary stalk interruption syndrome—A multimodality imaging case report

Abstract

Pituitary stalk interruption syndrome is a rare congenital disorder of pituitary development, and arrhythmogenic right ventricular cardiomyopathy is an inherited myocardial disease and a recognized cause of sudden death in the young. To our knowledge, their co-occurrence has not been previously reported. We report the case of a 32-year-old woman with a decade-long history of hormonally complete PSIS, who presented with progressive exertional fatigue and 2 exertional syncopal episodes. Electrocardiography showed anterior T-wave inversions, echocardiography demonstrated right ventricular dilatation with regional hypokinesia, and cardiac magnetic resonance imaging confirmed severe right ventricular dysfunction with fibro-fatty replacement, fulfilling 2 major 2010 Task Force criteria for definite arrhythmogenic right ventricular cardiomyopathy. She was managed with a beta-blocker, activity restriction, a primary-prevention implantable cardioverter-defibrillator, and continued hormone replacement, with a stable outcome at 6 months. This case highlights the complementary role of multimodality imaging in establishing the diagnosis, and raises the possibility of a shared developmental origin between the 2 conditions, supporting consideration of cardiac evaluation and genetic characterization in similar patients.