The mystery behind recurrent pericardial effusions: A hidden case of arrhythmogenic right ventricular cardiomyopathy

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare but potentially life- threatening genetic disorder characterized by fibrofatty myocardial replacement, ventricular dysfunction, and arrhythmias. Presenting a significant diagnostic challenge due to its phenotypic heterogeneity. While the cardinal features of ARVC are electrical instability and an elevated risk of sudden cardiac death, pericardial effusion, an infrequent manifestation of ARVC, potentially arising from complex interactions between myocardial remodeling and local inflammatory processes, can obscure the underlying cardiac pathology, causing a delayed recognition of the disease.

We report a case of recurrent unexplained pericardial effusions in a young female patient presenting with dyspnea and chest pain. Clinical examination revealed muffled heart sounds. Despite initial management with colchicine, the effusion progressed, requiring pericardiocentesis, yielding sero-hematic transudate with negative infectious, cytological, and autoimmune workups. Transthoracic echocardiography revealed a dilated right ventricle with severe tricuspid regurgitation. Cardiac MRI confirmed right ventricular akinesia, an RVEF <40%, and prominent trabeculations. Based on the 2010 Task Force criteria, the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) was definitively established.

This case highlights the importance of considering ARVC in patients with unexplained recurrent pericardial effusions and right ventricular abnormalities, even in the absence of typical arrhythmic symptoms.