Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy

OBJECTIVES We sought to define the clinical picture and natural history of familial arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUNDS Arrhythmogenic right ventricular cardiomyopathy is a myocardial disease, often familial, clinically characterized by the impending risk of ventricular arrhythmias and sudden death. METHODS Thirty-seven ARVC families of northeast Italy were studied. Proband s had a histologic diagnosis of ARVC, either at autopsy (19 families) or en domyocardial biopsy (18 families). Protocol of the investigation included b asal electrocardiogram (ECG), 24-hour EGG, signal-averaged EGG, stress test and two-dimensional Doppler echocardiography. Invasive evaluation was perf ormed when deemed necessary. RESULTS Of the 365 subjects, 151 (41%) were affected, 157 (43%) were unaffe cted, 17 (5%) were healthy carriers, and 40 (11%) were uncertain. Mean age at diagnosis was 31 +/- 13 years. By echocardiography, 64% had mild, 30% ha d moderate, and 6% had severe form. Forty percent had ventricular arrhythmi as, 49 were treated with antiarrhythmic drugs, and two were treated with im plantable cardioverter defibrillators. Sport activity was restricted in all . Of the 28 families who underwent linkage analysis, 6 mapped to chromosome 14q23-q24, 4 to 1q42-q43, and 4 to 2q32.1-q32.3. No linkage with known loc i was found in four families and 10 had uninformative results. During a fol low-up of 8.5 +/- 4.6 years, one patient died (0.08 patient/year mortality) , and 15 developed an overt form of ARVC. CONCLUSIONS Arrhythmogenic right ventricular cardiomyopathy is a progressiv e disease appearing during adolescence and early adulthood. Systematic eval uation of family members leads to early identification of ARVC, characteriz ed by a broad clinical spectrum with a favorable outcome. In the setting of positive family history, even minor ECG and echocardiographic abnormalitie s are diagnostic. (C) 2000 by the American College of Cardiology.