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Implications of Genetic Testing in Dilated Cardiomyopathy
Job A J Verdonschot1,2, Mark R Hazebroek1, Ingrid P C Krapels2
1Department of Cardiology (J.A.J.V., M.R.H., M.T.H.M.H., A.R., J.J.M., S.R.B.H.).
Circulation. Genomic and Precision Medicine
|September 4, 2020
Summary
Genetic testing reveals pathogenic variants in 19% of dilated cardiomyopathy (DCM) patients, impacting outcomes. Electrical phenotypes in genetic DCM are linked to increased adverse events.
Area of Science:
- Cardiology
- Genetics
- Electrophysiology
Background:
- Dilated cardiomyopathy (DCM) diagnosis often involves genetic analysis.
- Electrical abnormalities are frequent in genetic DCM, but their prognostic significance is unclear.
- This study investigates the prevalence of genetic variants and the role of electrical phenotypes in DCM outcomes.
Purpose of the Study:
- To determine the prevalence of pathogenic gene variants in a large, unselected DCM cohort.
- To assess the association between electrical phenotypes and clinical outcomes in genetic DCM.
- To evaluate the impact of genetic variants on disease course and prognosis.
Main Methods:
- A cohort of 689 DCM patients underwent genetic testing using a 48-gene panel.
- Echocardiography, endomyocardial biopsies, and Holter monitoring were performed.
- Familial segregation analysis and long-term outcome assessment (cardiovascular death, transplantation, heart failure hospitalization, life-threatening arrhythmias) were conducted.
Main Results:
- Pathogenic variants were identified in 19% of DCM patients, higher in familial (36%) versus non-familial (13%) cases.
- Genetic DCM was associated with specific electrical phenotypes (atrial fibrillation, ventricular tachycardia, AV block) and inversely with left bundle branch block.
- Event-free survival was reduced in genetic DCM patients, with electrical phenotypes mediating this effect on outcome.
Conclusions:
- A significant proportion of DCM patients, including those with non-genetic risk factors or initially non-familial disease, harbor pathogenic gene variants.
- Genetic DCM is characterized by a distinct electrical phenotype profile associated with increased risk of adverse outcomes.
- Expanded genetic testing is recommended for DCM diagnosis and risk stratification.
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