[Arrhythmogenic right ventricular cardiomyopathy as a cause of sudden death in young people--literature review].

Abstract

Arrhythmogenic right ventricular cardiomyopathy/dysplasia is a progressive condition with right ventricular myocardium being replaced by fibro-fatty tissue. It is a hereditary disorder mostly caused by desmosome gene mutations. The prevalence of arrhythmogenic right ventricular cardiomyopathy is about 1/1000-5000. Clinical presentation is usually related to ventricular tachycardias, syncope or presyncopa, or ventricular fibrillation leading to cardiac arrest, mostly in young people and athletes. It may be difficult to make the diagnosis of arrhythmogenic right ventricular cardiomyopathy due to several problems arising from the specificity of electrocardiograph abnormalities, different potential etiologies of ventricular arrhythmias with a left bundle branch morphology, the assessment of the right ventricular structure and function, and the interpretation of endomyocardial biopsy findings. Therefore, standardized diagnostic criteria have been proposed by the Study Group on arrhythmogenic right ventricular cardiomyopathy of the European Society of Cardiology. In order to make the diagnosis ofarrhythmogenic right ventricular cardiomyopathy, a number of clinical tests are employed, including the electrocardiogram, echocardiography, myocardial perfusion scintigraphy, myocardial biopsy, right ventricular angiography, cardiac magnetic resonance imaging and genetic testing. The therapeutic options include beta blockers, antiarrhythmic drugs, catheter ablation, and implantable cardioverter defibrillator. The implantable cardioverter defibrillator is the most effective safe-guard against arrhythmic sudden death. Preparticipation screening for sport eligibility has been proven to be effective in detecting asymptomatic patients and sport disqualification has been lifesaving, substantially declining sudden death in young athletes.