RT-209
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Arrhythmogenic right ventricular
cardiomyopathy: a report of 162 familial cases
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Andrea Nava, Barbara Bauce, Carla
Villanova, Alessandra Rampazzo*, Michela Muriago, Luciano Daliento, Cristina Basso**,
Gianfranco Buja, Gian Antonio Danieli*, Gaetano Thiene**.
Departments of Cardiology, *Biology and **Pathology, University of Padua, Italy
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Abstract
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Aim of the study. Arrhythmogenic
right ventricular cardiomyopathy (ARVC) is a primary myocardial disease of unknown
etiology, with many clinical findings not well clarified. By studying the familiarity of
the disease we have tried to evaluate a genetic hypothesis, calculate the incidence, the
onset, and the progression of the clinical findings.
Methods. 64 families were studied. In 22 families the proband died
suddenly at a young age and autoptic diagnosis of the disease was obtained. In the other
42 families the proband had ventricular arrhythmias and the diagnosis of ARVC was
confirmed by endomyocardial biopsy. Diagnosis of the studied family members was carried
out according to the criteria established by the task force on ARVC. The basic exams used
for the diagnosis were: ECG (12 leads), 24-hour Holter ECG, signal-averaged ECG, ergometer
stress test, M-mode, two-dimensional and Doppler echocardiography. Fifteen patients
underwent nuclear magnetic resonance and 47 hemodynamic studies with biopsies.
Results. Familiarity of the disease was demonstrated in 37 families
(57%). Of these, 365 members were studied; 162 subjects resulted in being affected (132
were alive at diagnosis while 30 died before the beginning of the study), 146 were
healthy, 17 were healthy carriers and 40 were classified as uncertain. Sixty affected
patients had different types of ventricular arrhythmias while 72 were asymptomatic; 28
subjects died of sudden death and two of congestive heart failure. Myocardial alterations
were differently diffused in the studied subjects. The extensive form of the disease was
rare (6%), while the moderate form (34.8%) and the mild form (59%) occurred more
frequently. The disease was not diagnosed in any subject before the age of ten; usually
diagnosis occurred from 10 to 25 years of age, mostly between 20 to 25 years. Appearance
of arrhythmias and sudden death have a similar pattern. Fifteen healthy subjects at the
first clinical examination developed the disease during follow-up. Both men and women can
have the disease as well as transmit it, but in the present study affected males were more
than affected females.
Conclusions. All these data confirm that ARVC is a progressive
disease with clinical polymorphic findings prevalently appearing after the age of ten. The
high incidence of familial occurrence confirms the hypothesis that ARVC is a genetic
disease. The disease resulted in being autosomic dominant with incomplete penetrance and
variable expressions in all families studied.
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Key Words
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Arrhythmogenic right ventricular dysplasia
famial disease, family studies, progressive disease, gene disease, autosomic dominant
disease, ventricular arrhythmias, congestive heart failure, late potentials, exercise
rest, pharmacologic treatment, ICD, young patients, asymptomatic/symptomatic patients, OA
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