Akademik Veri Yönetim Sistemi
Turk Kardiyoloji Dernegi Arsivi, cilt.31, sa.2, ss.88-95, 2003 (Scopus)
Arrhythmogenic right ventricular dysplasia (ARVD) is a familial, progressive heart muscle disease. It is characterized by fatty infiltration of the right ventricle, which frequently results in life threatening cardiac arrhythmias. It is one of the important causes of sudden cardiac death in the young. Familial inheritance of the disease is well known. The most common pattern of inheritance is autosomal dominant. A recessive syndromic form of ARVD associated with woolly hair and palmoplantar keratoderma, referred as Naxos disease, has also been reported. According to our knowledge, we now present the first ARVD cases of two families with an autosomal recessive non-syndromic form of the disease. Both of these families originate from Rize. All family members considered for the study underwent clinical examination, 12-lead electrocardiography (ECG), 24 h Holter electrocardiography and echocardiography. Magnetic resonance imaging was done in all affected family members. The diagnosis of ARVD was done according to internationally established diagnostic criteria for ARVD. Our initial molecular studies excluded the known ARVD loci on chromosomes 1, 2, 3, 10, 14 and 17. This result provides evidence for further genetic heterogeneity of the disease. Affected members of these families will be clinically followed-up and these future studies will give more insights into the progression and prognosis of recessive forms of ARVD.