Familial form of arrhythmogenic right ventricular cardiomyopathy

Abstract

Background: Arrhythmogenic right ventricular dysplasia (ARVD) is characterised by fatty and fibrous infiltration of myocardial muscle. Clinical symptoms include dangerous cardiac arrhythmias and heart failure in the advanced form of the disease. ARVD is genetically determined in at least 50% of cases and is characterised by a marked variability of clinical presentation within one family.

Aim: To assess the prevalence of the familial form of ARVD in Poland, the mode of inheritance and the risk of sudden cardiac death as well as heart failure development in asymptomatic patients, in whom ARVD was detected during family screening.

Methods: 211 relatives of 40 patients with ARVD were examined. Thirty two families were identified in which at least two members had the disease. The analysed parameters included family history, physical examination, ECG, echocardiography and magnetic resonance.

Results: Abnormalities of the right ventricle and/or cardiac arrhythmias suggesting ARVD were found in 71 subjects (mean age 32.4 years). In 28 cases ARVD was diagnosed. From this group, one patient had aborted sudden death. In the remaining 43 subjects a borderline form of the disease was detected. Of this group, one patient died suddenly. The degree of morphological changes in cardiac muscle correlated with patients' age.

Conclusions: 1. The familial form of ARVD is frequent in Poland. 2. ARVD is inherited in an autosomal dominant mode. 3. Sudden cardiac death may be the first symptom of the disease, even in subjects with borderline ARVD. 4. ARVD is a progressive disease. Concomitant left ventricular involvement is not rare and probably represents a late stage of the disease.