Key result
Genetic testing for dilated cardiomyopathy can identify underlying etiologies, guide medical management such as early defibrillator therapy for high-risk variants, and facilitate cascade screening.
Why the study?
Dilated cardiomyopathy frequently involves an underlying genetic etiology, but the clinical approach for genetic diagnosis and application of results in clinical practice can be complex.
Genetic testing in dilated cardiomyopathy provides diagnostic and prognostic value, particularly in identifying patients at high risk for ventricular arrhythmias who may benefit from early ICD therapy.
Supports targeted genetic testing in DCM to guide ICD decisions; leaves open prospective validation of outcome benefits.
PURPOSE OF REVIEW: Dilated cardiomyopathy (DCM) frequently involves an underlying genetic etiology, but the clinical approach for genetic diagnosis and application of results in clinical practice can be complex. RECENT FINDINGS: International sequence databases described the landscape of genetic variability across populations, which informed guidelines for the interpretation of DCM gene variants. New evidence indicates that loss-of-function mutations in filamin C (FLNC) contribute to DCM and portend high risk of ventricular arrhythmia. A clinical framework aids in referring patients for DCM genetic testing and applying results to patient care. Results of genetic testing can change medical management, particularly in a subset of genes that increase risk for life-threatening ventricular arrhythmias, and can influence decisions for defibrillator therapy. Clinical screening and cascade genetic testing of family members should be diligently pursued to identify those at risk of developing DCM.
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Lisa D. Wilsbacher (2020) conducted a review in Dilated cardiomyopathy. Genetic testing was evaluated. Genetic testing for dilated cardiomyopathy can identify underlying etiologies, guide medical management such as early defibrillator therapy for high-risk variants, and facilitate cascade screening.
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