What is the clinical evidence from this study?

Study design: Observational. Population: isolated congenital heart defects (n=470). Intervention: MYH6 mutations vs. non-mutant MYH6. Primary outcome: Identification of MYH6 mutations and their effect on myofibril formation.

July 23, 2010Human Molecular Genetics

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

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Key result

MYH6 mutations were identified in patients with isolated congenital heart defects, with specific variants significantly disrupting or enhancing myofibril formation in vitro.

Population

DNA samples from 470 cases of isolated congenital heart defects and mouse myoblasts for in vitro functional…

Comparison

Mutation analysis of MYH6 and in vitro… vs Non-mutant MYH6 protein (for in vitro assays)

Design

Preclinical

Authors

JGJavier T Granados-RiveronHospital Infantil de México Federico Gómez TGTushar K. GhoshAgency for Science, Technology and Research MPMark PopeUniversity of Nottingham

Discussion

Member takes

Implication

Functional variants of MYH6 are associated with a wide spectrum of sporadic congenital heart defects, potentially through disruption of myofibril formation.

Study Design

Type

Observational (n=470)

Structured PICO

Population

470 patients with isolated congenital heart defects who underwent mutation analysis of the MYH6 gene.

Exposure

Mutation analysis of MYH6 (using DHPLC, sequence analysis, and MLPA) and in vitro transfection of mutant MYH6 plasmids

Comparator

Non-mutant MYH6 protein (for in vitro assays)

Outcome

Presence of MYH6 mutations and their functional impact on myofibril formationsurrogate

Functional variants of MYH6 are associated with a wide spectrum of sporadic congenital heart defects, potentially through disruption of myofibril formation.

Cite This Study

Granados-Riveron et al. (2010) conducted an observational in isolated congenital heart defects (n=470). MYH6 mutations vs. non-mutant MYH6 was evaluated on Identification of MYH6 mutations and their effect on myofibril formation. MYH6 mutations were identified in patients with isolated congenital heart defects, with specific variants significantly disrupting or enhancing myofibril formation in vitro.

synapsesocial.com/papers/6a86dab52174986a53ca074a https://doi.org/10.1093/hmg/ddq315

Topics

Congenital heart disease adults

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Implication

Functional variants of MYH6 are associated with a wide spectrum of sporadic congenital heart defects, potentially through disruption of myofibril formation.

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Topics

α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

Discussion

Member takes

Implication

Study Design

Structured PICO

Cite This Study

Also Consider

Topics

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