Increasing role of Magnetic Resonance in Diagnosis and Prognosis of Arrhythmogenic Right Ventricle Dysplasia/Cardiomyopathy

A 33-year-old woman with previous diagnosis of asymptomatic frequent premature ventricular complexes (PVC), without documented structural disease in echocardiography. She presented recently with palpitations and dizziness. Another echocardiogram was performed suggesting for the first time right ventricle (RV) dilation and possible hypokinesia of RV apex. Electrocardiogram showed T-wave inversion in V1-V2 and Epsilon wave in V1. Holter documented 2869 polymorphic isolated PVC. Cardiovascular magnetic resonance (CMR) showed moderate RV dilation (end-diastolic volume of 125 ml/m2), RV systolic dysfunction (RV ejection fraction 33%) with RV free wall hypokinesia, a focal area of dyskinesia (“buldging”) in RV outflow tract and trabecular disarray. There was no evidence of intra-myocardial fat. Positive Late gadolinium enhancement was evident in RV free wall and RV outflow tract.

Genetic test showed heterozygous desmoglein-2 (DSG2) mutation.

The patient fulfilled criteria for Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD/C).

Diagnosis of ARVD/C can be challenging, requiring closer follow up and evaluation of multiple parameters. CMR is the imaging method of choice for diagnostic, structural evaluation and risk stratification.