Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) -What We Have Learned after 40 Years of the Diagnosis of This ClinicalEntity

摘要

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) was initially recognized as a clinical entity by Fontaine and Marcus, who evaluated a group of patients with ventricular tachyarrhythmia from a structurally impaired right ventricle (RV). Since then, there have been significant advances in the understanding of the pathophysiology, manifestation and clinical progression, and prognosis of the pathology. The identification of genetic mutations impairing cardiac desmosomes led to the inclusion of this entity in the classification of cardiomyopathies. Classically, ARVC/D is an inherited disease characterized by ventricular arrhythmias, right and / or left ventricular dysfunction; and fibro-fatty substitution of cardiomyocytes; its identification can often be challenging, due to heterogeneous clinical presentation, highly variable intra- and inter-family expressiveness, and incomplete penetrance.In the absence of a gold standard that allows the diagnosis of ARVC/D, several diagnostic categories were combined and recently reviewed for a higher diagnostic sensitivity, without compromising the specificity. The finding that electrical abnormalities, particularly ventricular arrhythmias, usually precede structural abnormalities is extremely important for risk stratification in positive genetic members. Among the complementary exams, cardiac magneticresonance imaging (CMR) allows the early diagnosis of left ventricularimpairment, even before morpho-functional abnormalities. Risk stratificationremains a major clinical challenge, and antiarrhythmic drugs, catheter ablationand implantable cardioverter defibrillator are the currently availabletherapeutic tools. The disqualification of the sport prevents cases of suddendeath because the effort can trigger not only the electrical instability, butalso the onset and progression of the disease.