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Preclinical, Asymptomatic, Inherited Dilated Cardiomyopathy

Findings support routine echocardiographic evaluation for relatives of patients with diagnosed dilated cardiomyopathy.

At least 25% of people with dilated cardiomyopathy (DCM) have inherited it. In this prospective cohort study, researchers studied 865 first- and second-degree relatives of 189 consecutive unselected British patients with DCM.

Ninety-eight of the relatives had known DCM. Noninvasive screening of the 767 who were asymptomatic revealed that 592 (77.2%) were healthy, 35 (4.6%) had DCM, 119 (15.5%) had left-ventricular enlargement without systolic dysfunction, and 21 (2.7%) had depressed fractional shortening without ventricular dilation.

Complete echocardiographic follow-up was obtained for 124 of the relatives with LV enlargement or depressed fractional shortening and for 238 of the initially healthy relatives. By a median follow-up of 53 months, progression to DCM had occurred in 16 relatives, 13 of whom had evidence of LV enlargement or depressed fractional shortening on initial evaluation. In a multivariable analysis, only the presence of LV enlargement or depressed fractional shortening independently predicted progression to DCM (hazard ratio, 10.0).

Comment: These results support routine echocardiographic evaluation for relatives of patients with diagnosed dilated cardiomyopathy. As the authors note, the goal of such screening would be to identify asymptomatic relatives and the subset with LV enlargement or depressed fractional shortening, who are at high risk for progression to DCM. In the future, genetic studies may help to identify high-risk relatives.

— Joel M. Gore, MD

Published in Journal Watch Cardiology August 19, 2005

Citation(s):

Mahon NG et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 2005 Jul 19; 143:108-15.

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