Common presentation of rare diseases: Arrhythmogenic right ventricular cardiomyopathy and its mimics.

ABSTRACT

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the most common phenotype described within the spectrum of arrhythmogenic cardiomyopathies. It usually presents in early adolescence with severe ventricular arrhythmias along with cardiac structural and functional alterations mainly of the right ventricular myocardium. Though the estimated prevalence of ARVC in the general population is only 15000, it represents one of the most common causes of juvenile sudden death. However, detection of early RV dysfunction in ARVC may be challenging requiring high clinical suspicion and an algorithmic approach. A thorough family history of juvenile sudden death, ventricular arrhythmias and ICD implants should always be sought. Diagnosis usually requires electrocardiographic interpretation as well as cardiac imaging. In this article, the key diagnostic steps in the assessment of ARVC and diagnostic red flags that aid its differential diagnosis are discussed.