Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy -Prevalence, inheritance and characteristics

Aims To assess the prevalence of familial non-X-linked dilated cardiomyopat hy, to diagnose early asymptomatic cases evaluate inheritance and character ize clinical phenotypes. Methods and Results We screened 472 relatives of 104 consecutive patients d iagnosed with dilated cardiomyopathy; males with X-linked dilated cardiomyo pathy were excluded based on systematic immunohistochemical and molecular a nalysis. Relatives underwent clinical examination, electrocardiography, ech ocardiography and serum creatine-phosphokinase determination. Twenty-six in dex patients (25%) had familial disease: four youths (less than or equal to 20 years) had rapidly progressive outcome and underwent emergency transpla ntation. In a sib-pair, the onset was with atrioventricular block. Inherita nce was autosomal dominant in 15, undetermined in seven (four sib-pairs); m itochondrial DNA pathological mutations were found in four. The screening i dentified 23 newly diagnosed relatives in the familial group. Transplantati on (P=0.04) and atrial fibrillation (P=0.04) were more frequent, and left b undle branch block (P=0.04) less frequent in index patients with familial t han in those with non-familial disease. Several nonaffected relatives had i nstrumental abnormalities potentially useful as pre-clinical markers: their prevalence was similar in both groups. Conclusions The prevalence of familial, non X-linked dilated cardiomyopathy was 25%. The immediate benefits of screening family members of index patie nts was early diagnosis in unaware symptomless affected relatives. (Eur Hea rt J 2001; 22: 73-81, doi:10.1053/euhj.2000.2171) (C) 2001 The European Soc iety of Cardiology.