Clinical Findings of two Families with Arrhythmogenic Right Ventricular Dysplasia

Arrhymogenic right ventricular dysplasia (ARVD) is afamilıal. progressive heartmuscle disease. lt is clıaracterized by fatty infiltration of the right ventricle. w/ı i c lı frequently results in life threatening cardiac arrlıytlımias. lt is one oj the importaııt causes of sudden cardiac eleatlı in tlıe young. Familial inlıerimnce of the disease is well known. Tlıe most CO/ll/liOn partem of inlıeritance is alliosomai dominam. A recessive syndromic form oj ARVD associateclıvitlı woolly /ıair and pa/mopla111ar keratodemıcı. refen·ed as Naxos disease, has also been reported. According to o11r knowledge. ıve noıv prese1ıt tlıefirsl ARVD cases oj two jamilies witlı an aııtosomal recessive non-syndromic form of t/ıe disease. Botlı of these families origin(l(e ji'om Rize . Alljanıi/y members cons ideredfor tlıe study wıderwent elinical examination. 12-/ead e/ectrocardiograplıy (ECC). 24 lı !-lo/ter elecrmcardiograplıy and eclıocardiograplıy. Magnetic resonance imaging ıvas done in all a.ffecteclfamily members. The diagnosis of ARVD was done according to intemational/y established diagnostic criteriafor ARVD. Our initialmolecular s1udies e.rc/11(/ed the known ARVD !oc i on clıromosomes 1. 2. 3. 10. 14 and 17. TlıiJ resnit provides evi de nce for furt/ıer genetic lıeterogeneity of tlıe disease. A.ffected members of these families w il/ be c/inically followed-up and tlıese jwure sflldies ıvill give mo re insights into rhe progression and prognosis of recessive fonns oj ARVD.