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J Am Coll Cardiol, 2000; 36:2226-2233 © 2000 by the American College of Cardiology Foundation |
* Department of Cardiology, University of Padua Medical School, Padua, Italy
Department of Pathology, University of Padua Medical School, Padua, Italy
Department of Biology, University of Padua Medical School, Padua, Italy
Manuscript received February 9, 2000; revised manuscript received June 22, 2000, accepted August 7, 2000.
Reprint requests and correspondence: Dr. Andrea Nava, c/o Associazione Ricerche Cardiopatie Aritmiche, Via A. Gabelli, 86 - 35121, Padua, Italy
anava{at}ux1.unipd.it
OBJECTIVES
We sought to define the clinical picture and natural history of familial arrhythmogenic right ventricular cardiomyopathy (ARVC).
BACKGROUND
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. Probands had a histologic diagnosis of ARVC, either at autopsy (19 families) or endomyocardial biopsy (18 families). Protocol of the investigation included basal electrocardiogram (ECG), 24-hour ECG, signal-averaged ECG, stress test and two-dimensional Doppler echocardiography. Invasive evaluation was performed when deemed necessary.
RESULTS
Of the 365 subjects, 151 (41%) were affected, 157 (43%) were unaffected, 17 (5%) were healthy carriers, and 40 (11%) were uncertain. Mean age at diagnosis was 31 ± 13 years. By echocardiography, 64% had mild, 30% had moderate, and 6% had severe form. Forty percent had ventricular arrhythmias, 49 were treated with antiarrhythmic drugs, and two were treated with implantable 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 loci was found in four families and 10 had uninformative results. During a follow-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 progressive disease appearing during adolescence and early adulthood. Systematic evaluation of family members leads to early identification of ARVC, characterized by a broad clinical spectrum with a favorable outcome. In the setting of positive family history, even minor ECG and echocardiographic abnormalities are diagnostic.
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