Dilated cardiomyopathy screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD [2]

Overview

The current guidelines recommend screening for dilated cardiomyopathy in individuals with 2 or 3 family members with primary dilated cardiomyopathy. Screening can be performed using electrocardiograms and echocardiography to measure the size and function of the left ventricle. An underlying genetic mutation in the 40 genes (currently assessed in FCD genetic testing) can be detected in 30 to 40% of FCD patients.

Screening

Screening is only recommended in individuals who have a family history of familial dilated cardiomyopathy (FDC).

In case of 2 or 3 family members affected with primary DCM, screening of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC according to guidelines from the Cardiac Genetic Diseases Council.
FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’.^[1]
FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.^[2]
About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.^[3]
Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.^[4]

References

Overview