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European Heart Journal 2001 22(1):73-81; doi:10.1053/euhj.2000.2171
Copyright © 2001 by the European Society of Cardiology.
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Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics

A. Gavazzia, A. Repettoa, L. Scelsia, C. Inserraa, M.L. Laudisaa, C. Campanaa, C. Specchiab, B. Dal Belloc, M. Diegolic, L. Tavazzia and E. Arbustinic,f1

a Cardiology, IRCCS San Matteo Hospital, Pavia, Italy
c Pathology and Molecular Diagnostics, IRCCS San Matteo Hospital, Pavia, Italy
b Public Health Department, Genova University, Genova, Italy

Abstract

Aims To assess the prevalence of familial non-X-linked dilated cardiomyopathy, to diagnose early asymptomatic cases evaluate inheritance and characterize clinical phenotypes.

Methods and Results We screened 472 relatives of 104 consecutive patients diagnosed with dilated cardiomyopathy; males with X-linked dilated cardiomyopathy were excluded based on systematic immunohistochemical and molecular analysis. Relatives underwent clinical examination, electrocardiography, echocardiography and serum creatine-phosphokinase determination. Twenty-six index patients (25%) had familial disease: four youths (≤20 years) had rapidly progressive outcome and underwent emergency transplantation. In a sib-pair, the onset was with atrioventricular block. Inheritance was autosomal dominant in 15, undetermined in seven (four sib-pairs); mitochondrial DNA pathological mutations were found in four. The screening identified 23 newly diagnosed relatives in the familial group. Transplantation (P=0·04) and atrial fibrillation (P=0·04) were more frequent, and left bundle branch block (P=0·04) less frequent in index patients with familial than in those with non-familial disease. Several non-affected relatives had instrumental 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 patients was early diagnosis in unaware symptomless affected relatives.

Key Words: Non-X-linked, evidence-based familial, dilated cardiomyopathy.

f1 Correspondence: Eloisa Arbustini, MD, Pathology, IRCCS Policlinico San Matteo, Via Forlanini 16-27100 Pavia, Italy.

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