PMID: 9426040Jan 13, 1998Paper

Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease

Journal of the American College of Cardiology
M K BaigW McKenna

Abstract

This study sought to determine whether early disease is identifiable in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) by means of noninvasive cardiologic assessment. DCM is diagnosed on the basis of advanced heart failure, where cardiac dilation and impaired contractility are recognized in the absence of a recognized etiology (World Health Organization criteria). However, initial clinical presentation may be with severe complications: thromboembolism, arrhythmia or sudden death. DCM has recently been recognized to be familial, with autosomal dominant inheritance in many cases. Familial disease is present in 9% to 20% of patients with DCM, and the ability to identify early disease in such people may improve patient management and aid in the understanding of pathogenesis. We prospectively assessed 408 asymptomatic relatives (mean [+/-SD] age 35 +/- 15 years, 193 men) of 110 consecutive patients with DCM by means of history and physical examination, two-dimensional echocardiography, 12-lead and signal-averaged electrocardiography and metabolic exercise testing. We hypothesized that signs of lesser cardiac dysfunction in such relatives might indicate early disease. Twenty-nine percent of relatives had abnorma...Continue Reading

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