A right ventricular bulge: A clinical dilemma in diagnosis.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease characterized by progressive fibrofatty tissue replacement of the myocardium. Asymptomatic individuals can often present for the first time with acute cardiac symptoms, such as syncope and ventricular arrhythmias or sudden cardiac death (SCD), which can occur in young and athletic populations. In the field of inherited cardiomyopathies, ARVC is one of the most challenging to diagnose due to its variable expressivity, incomplete penetrance, and lack of specific, unique diagnostic criteria. Without additional clinical findings or context, current imaging modalities are unable to definitively distinguish ARVC from other disease entities. Right ventricular (RV) structural changes can lead to prominent ARVC features. An important component of the 2010 revised task force criteria (TFC) is the assessment of RV wall motion contraction by echocardiography; however, this can be difficult to assess. This case report explores the diagnostic criteria used for ARVC and the role of RV wall motion contraction in the diagnosis.