Key result
Genetic testing identifies variants across ~40 genes linked to dilated cardiomyopathy and LV enlargement.
Why the study?
Over 40 genes have been associated with dilated cardiomyopathy, but interpretation of genetic testing reports for DCM remains complex and requires clarification.
Provides guidance on the interpretation of genetic testing reports for identifying pathogenic variants associated with dilated cardiomyopathy.
Genetic testing is the process of obtaining a biological sample from a patient, isolating DNA, and analyzing the DNA sequence with the goal of identifying genetic variants associated with the patient’s phenotype. To date, over 40 genes have been associated with the development of dilated cardiomyopathy (DCM) [1]. DCM-associated genetic variants cause gene dysfunction through several potential mechanisms, such as introduction of a premature stop codon, ultimately leading to left ventricular enlargement, myocardial dysfunction, and frequently, myocardial fibrosis.
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Patel et al. (2026) conducted a review in Dilated cardiomyopathy. Genetic testing was evaluated. Genetic testing identifies variants in over 40 genes associated with dilated cardiomyopathy, providing insight into mechanisms of gene dysfunction and resulting left ventricular enlargement.
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