December 26, 2007PLoS ONEOpen Access

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Noncompaction of the ventricular myocardium (NVM) (n=208). Intervention: MYH7 missense mutation (c.842G>C, R281T) vs. Wild-type MYH7 (unaffected family members and healthy controls). Primary outcome: Genetic linkage to NVM phenotype (LOD score 4.15).

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Key result

A de novo missense mutation (R281T) in the beta-myosin heavy chain gene (MYH7) perfectly cosegregated with noncompaction of the ventricular myocardium in a large German family (LOD score 4.15).

Population

24 members of a large German family evaluated for noncompaction of the ventricular myocardium, along with…

Design

Cohort

Authors

BBBirgit BuddeUniversity of Cologne PBPriska BinnerSynlab (Germany)SWStephan WaldmüllerUniversity of Tübingen

Discussion

Member takes

Implication

Provides first MYH7 link to familial noncompaction; hypothesis-generating, requires replication before any clinical genetic testing changes.

Study Design

Type

Observational (n=208)

Structured PICO

Population

24 members of a German family with a history of noncompaction of the ventricular myocardium, along with 184 healthy controls, evaluated for genetic linkage.

Outcome

Underlying genetic defect causing NVMsurrogate

Main Result

Effect estimate: LOD score 4.15

This study provides the first evidence that a mutation in the sarcomeric protein beta-myosin heavy chain (MYH7) can cause noncompaction of the ventricular myocardium.

Limitations

The mechanism by which a mutation in a contractile protein causes NVM rather than hypertrophic or dilated cardiomyopathy remains unclear.
Findings are based on a single family, which may limit generalizability.

Cite This Study

Budde et al. (2007) conducted an observational in Noncompaction of the ventricular myocardium (NVM) (n=208). MYH7 missense mutation (c.842G>C, R281T) vs. Wild-type MYH7 (unaffected family members and healthy controls) was evaluated on Genetic linkage to NVM phenotype (LOD score 4.15). A de novo missense mutation (R281T) in the beta-myosin heavy chain gene (MYH7) perfectly cosegregated with noncompaction of the ventricular myocardium in a large German family (LOD score 4.15).

synapsesocial.com/papers/6a733db7d98d9ee37dc8f807 https://doi.org/10.1371/journal.pone.0001362

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Implication

Provides first MYH7 link to familial noncompaction; hypothesis-generating, requires replication before any clinical genetic testing changes.

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

Discussion

Member takes

Implication

Study Design

Structured PICO

Main Result

Limitations

Cite This Study

Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

Discussion

Member takes

Implication

Study Design

Structured PICO

Main Result

Limitations

Cite This Study

Also Consider

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