Familial Dilated Cardiomyopathy

Anant Khositseth, MD; Virginia V. Michels, MD


Cardiovasc Rev Rep. 2004;25(5) 

In This Article

Recommended Screening and Follow-Up for Relatives of Probands With Idiopathic DCM

It generally is recommended that first-degree relatives of patients with hypertrophic cardiomyopathy have monitoring every 5 years with electrocardiography and echocardiography for early detection and treatment of disease.[26] Because at least 30% of DCM patients have familial DCM, we suggest the same strategy for DCM. In our previously reported series, 7% of relatives had DCM at the time of initial evaluation.[3] In this same group of relatives, a 10-year longitudinal study revealed that a minimum of 2%-7% of first-degree relatives who initially had normal echocardiograms developed DCM.[24] Because early detection and treatment of arrhythmias and left ventricular systolic dysfunction may improve outcome, it seems reasonable that screening should be repeated for these relatives at some defined time interval.[24] What that time interval should be is unclear, but a 3- to 5-year interval may be reasonable until more data becomes available. The onset of DCM in relatives occurred at ages ranging from 9 to 75 years, so there does not appear to be a safe age at which screening can be discontinued.[24]

Familial DCM has been considered to have a poorer prognosis than nonfamilial DCM. In a study of 240 patients with DCM, of whom 31 were familial and 209 were nonfamilial, the familial group had 4-year and 6-year survival of only 9% and 6% compared with 46% and 23% in the nonfamilial groups.[27] These investigators also found that the mean age at diagnosis in the familial DCM group was significantly younger than in the nonfamilial group (31.8 vs. 39.6 years) and that its progression was more rapid than in nonfamilial cases.[27] They suggested that the presence of familial DCM should be taken into account when considering timing for cardiac transplantation.[27] In contrast, in a more recent study, no significant difference was reported in the 5-year survival or time to heart transplantation in an unselected series of 30 patients with familial DCM compared with 71 patients with nonfamilial DCM.[27] All patients were classified into familial or nonfamilial DCM by echocardiography of the first-degree relatives. The mean age at study entry of the familial DCM group was not significantly different from the nonfamilial DCM group (51.5 vs. 48.8 years).[25] The familial DCM group had a 5-year survival of 51% compared with 55% in the nonfamilial group;[25] however, most of the patients had a family history compatible with autosomal dominant inheritance. The possibility cannot be excluded that subsets of familial DCM patients with younger age at onset or patients with X-linked or autosomal-recessive inheritance have more severe disease with a worse prognosis.

Familial DCM occurs with significant frequency among patients with DCM. The first-degree relatives of patients with idiopathic DCM should have periodic echocardiography to detect DCM and provide early treatment. There is a wide range of onset of familial DCM, even within the same family, with new cases continuing to appear at older ages.


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