Arrhythmogenic right ventricular cardiomyopathy: Perspectives on disease

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease of unknown cause. It can cause both cardiac arrhythmia and heart failure or sudden death. As such patients typically will present to one of three groups depending upon the symptoms at presentation: the pathologist, the physician or the arrhythmologist. Typically a young patient who presents with presyncope or syncope may be investigated by an electrophysiologist and have ventricular tachyarrhythmias. Sadly some young individuals with ARVC may present to a pathologist with sudden cardiac death. Those that survive repeated bouts of arrhythmia and/or some individuals with primary heart failure may initially present to general physicians/cardiologists. With the introduction of molecular genetic studies a wider spectrum of disease manifestation has become apparent for Hypertrophic Cardiomyopathy (HCM). Different clinical forms of ARVC have been described as having different genetic loci possibly reflecting phenotypic and genetic heterogeneity. Genetic studies have highlighted the difficulties of variable and age-related penetrance for HCM this appears to also be true of ARVC. From the various perspectives it can be seen that ARVC encompasses a complex and variable disease. Over the last decade ongoing research has allowed a much greater understanding of ARVC. Initially arrhythmia was highlighted as the primary disease manifestation, but it has been shown ARVC is a progressive disease, which may present with heart failure or sudden death. As research continues to unravel the complexities of both genetic and environmental factors responsible for variable disease presentation and modification, improvements should also be possible in terms of diagnostic specificity and therapy.