Abstract
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes. The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement to such an extent that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular pump failure, so severe as to require transplantation. The causative genes encode proteins of mechanical cell junctions (plakoglobin, plakophilin, desmoglein, desmocollin, desmoplakin) and account for intercalated disk remodeling. Familiar occurrence with an autosomal dominant pattern of inheritance and variable penetrance has been proven. Recessive variants associated with palmoplantar keratoderma and woolly hair have been also reported. Clinical diagnosis may be achieved by demonstrating functional and structural alterations of the right ventricle, depolarization and repolarization abnormalities, arrhythmias with the left bundle branch block morphology and fibro-fatty replacement through endomyocardial biopsy. Two dimensional echo, angiography and magnetic resonance are the imaging tools for visualizing structural-functional abnormalities. Electroanatomic mapping is able to detect areas of low voltage corresponding to myocardial atrophy with fibro-fatty replacement. The main differential diagnoses are idiopathic right ventricular outflow tract tachycardia, myocarditis, dialted cardiomyopathy and sarcoidosis. Only palliative therapy is available and consists of antiarrhythmic drugs, catheter ablation and implantable cardioverter defibrillator. Young age, family history of juvenile sudden death, QRS dispersion ≥ 40 ms, T-wave inversion, left ventricular involvement, ventricular tachycardia, syncope and previous cardiac arrest are the major risk factors for adverse prognosis. Preparticipation screening for sport eligibility has been proven to be effective in detecting asymptomatic patients and sport disqualification has been life-saving, substantially declining sudden death in young athletes.
Highlights
Definition Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a unique heart muscle disease, clinically characterized by non-ischemic ventricular arrhythmias originating from the right ventricle (RV), at risk of cardiac arrest
In 1988, Thiene et al observed an impressive series of sudden deaths in the young (≤35 years), with pathology consisting of ARVC/D, mostly occurring during effort, and all characterized by inverted T-waves in the right precordial leads at electrocardiogram (ECG) and apparently benign ventricular arrhythmias of left bundle branch block (LBBB) morphology [3]
They accounted for 20% of all sudden deaths in the young and for the first time it was acknowledged that ARVC/D is another important cause of sudden death in the young [12]
Summary
Definition Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a unique heart muscle disease, clinically characterized by non-ischemic ventricular arrhythmias originating from the right ventricle (RV), at risk of cardiac arrest. In 1988, Thiene et al observed an impressive series of sudden deaths in the young (≤35 years), with pathology consisting of ARVC/D, mostly occurring during effort, and all characterized by inverted T-waves in the right precordial leads at electrocardiogram (ECG) and apparently benign ventricular arrhythmias of LBBB morphology [3]. The fibro-fatty replacement of the myocardium interferes with intraventricular conduction of the electric impulse accounting for delay (late potentials, epsilon wave, parietal right bundle branch block) and onset of re-entrant phenomena which are the mechanism of ventricular arrhythmias. In first degree relatives of a patient, confirmed to be affected by ARVC/D, the presence of right precordial T-wave inversion (V2 and V3), or late potentials on signal-averaged ECG, or VT with LBBB morphology, or mild functional or morphological changes of the RV on imaging, should be considered diagnostic for familial ARVC/D. The plakophilins are found in the nucleus as well as the desmosome, their function therein
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