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Abstract
Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heart-muscle disease
that is a cause of sudden death in young people and athletes. Causative mutations
in genes encoding desmosomal proteins have been identified and the disease is nowadays
regarded as a genetically determined myocardial dystrophy. The left ventricle is so
frequently involved as to support the adoption of the broad term arrhythmogenic cardiomyopathy.
Clinical diagnosis can be achieved by demonstrating function and structure changes
of the right ventricle, electrocardiogram depolarisation and repolarisation abnormalities,
ventricular arrhythmias, and fibrofatty replacement through endomyocardial biopsy.
Although specific, the standardised diagnostic criteria lack sensitivity for early
disease and their primary application remains in establishing the diagnosis in probands.
However, the main clinical targets are early detection of concealed forms and risk
stratification for preventive strategies, which include physical exercise restriction,
antiarrhythmic drugs, and implantable cardioverter-defibrillator therapy. Cascade
genetic screening of family members of gene-positive probands allows the identification
of asymptomatic carriers who would require lifelong follow-up due to the age-related
penetrance.