Familial Dilated Cardiomyopathy

Anant Khositseth, MD; Virginia V. Michels, MD

Disclosures

Cardiovasc Rev Rep. 2004;25(5) 

In This Article

Frequency of Familial DCM Among Patients With Idiopathic Cardiomyopathy

DCM had been considered to be familial in only a small number of cases until 1992, when an unselected series of DCM patients was enrolled in a study to prospectively evaluate their first-degree relatives, regardless of whether or not there was any suspicion of familial disease.[4] In that study, relatives underwent a complete review of medical history, a cardiovascular examination, an electrocardiogram, and an M mode and two-dimensional Doppler echocardiogram. It was determined that 24% of patients with DCM had at least one first-degree relative with DCM based on echocardiographic findings of left ventricular ejection fraction (LVEF) <50% and left ventricular (LV) size above the 95th percentile for age and body size, and absence of coronary disease or other possible etiologies for decreased ventricular function.[4] Coronary disease was excluded by coronary angiography in patients aged 40 years or older. Similar studies were published confirming and extending these observations.[5,6] In these studies, cardiac catheterization was performed in the affected relatives to exclude coronary atherosclerosis. The frequency varied from 25%-35%, depending on the strictness of the criteria (e.g., whether patients with an enlarged LV without systolic dysfunction were included). These observations prompted a search for the molecular genetic etiologies of DCM.

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