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September 3, 2020Circulation Genomic and Precision MedicineOpen Access

Implications of Genetic Testing in Dilated Cardiomyopathy

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Why the study?

What is the prevalence and clinical implication of pathogenic gene variants in patients with dilated cardiomyopathy?

Population

Patients with dilated cardiomyopathy, including those with an established nongenetic risk factor or a…

Design

Review

Authors

JVJob A.J. VerdonschotMHMark R. HazebroekIKIngrid P.C. Krapels

Discussion

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Overview

May support genetic testing in nonfamilial DCM; leaves open whether variant identification improves outcomes or management.

Structured PICO

What is the prevalence and clinical implication of pathogenic gene variants in patients with dilated cardiomyopathy?

P
Population
Patients with dilated cardiomyopathy (DCM), including those with an established nongenetic risk factor or a nonfamilial disease
I
Intervention
Genetic testing
O
Outcome
Presence of pathogenic gene variants and associated electrical phenotypes (atrial fibrillation, nonsustained ventricular tachycardia, and atrioventricular block)

Pathogenic gene variants are present in 20% of DCM patients even with nonfamilial or nongenetic risk factors, suggesting a broader role for genetic testing to identify patients at risk for arrhythmias and adverse outcomes.

Cite This Study

Verdonschot et al. (2020) studied this question.

synapsesocial.com/papers/69d67e7449dce5ab9d88b417https://doi.org/10.1161/circgen.120.003031
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