December 3, 2010Circulation Cardiovascular GeneticsOpen Access

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

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Why the study?

Are MYH7 mutations associated with Ebstein anomaly and left ventricular noncompaction?

Population

141 unrelated probands with Ebstein anomaly from a large population-based study

Design

Cohort

Authors

APAlex V. PostmaAmsterdam University Medical Centers KEKlaartje van EngelenChampalimaud Foundation JMJudith van de MeerakkerAmsterdam UMC Location University of Amsterdam

Discussion

Member takes

Implication

MYH7 mutations associate with LVNC in Ebstein anomaly; supports targeted testing but leaves open causal and management implications.

Structured PICO

Are MYH7 mutations associated with Ebstein anomaly and left ventricular noncompaction?

Population

141 unrelated probands with Ebstein anomaly from a large population-based study

Intervention

Next-generation sequencing and direct DNA sequencing of MYH7

Outcome

Presence of MYH7 mutations and association with left ventricular noncompaction (LVNC)surrogate

MYH7 mutations are present in a subset of patients with Ebstein anomaly, specifically those with concurrent left ventricular noncompaction, suggesting a role for genetic testing in this population.

Cite This Study

Postma et al. (2010) studied this question.

synapsesocial.com/papers/6a0fdc60d8c5cf602efd413f https://doi.org/10.1161/circgenetics.110.957985

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Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider