What question did this study set out to answer?

Determine whether left ventricular noncompaction arises from sarcomere protein gene mutations and shares an underlying etiology with other cardiomyopathies.

May 28, 2008CirculationOpen Access

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

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Determine whether left ventricular noncompaction arises from sarcomere protein gene mutations and shares an underlying etiology with other cardiomyopathies.
Screened sarcomere protein genes for pathogenic variants in cases presenting with left ventricular noncompaction.
Assessed morphological spectrums and clinical phenotypes associated with identified sarcomere gene defects.
Left ventricular noncompaction manifests as part of the diverse morphological spectrum triggered by sarcomere gene mutations.
Sarcomere gene alterations support a shared molecular etiology across distinct cardiomyopathy phenotypes.

Structured PICO

Population

Left ventricular noncompaction

Intervention

Sarcomere protein gene defects

Left ventricular noncompaction shares a molecular etiology with other cardiomyopathic phenotypes through sarcomere protein gene defects.

Discussion

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Implication

Consider sarcomere gene testing in LVNC; extends the cardiomyopathy spectrum but remains hypothesis-generating.

Cite This Study

Klaassen et al. (2008) studied this question.

synapsesocial.com/papers/69d56f8375589c71d767d95f https://doi.org/10.1161/circulationaha.107.746164

Topics

Cardiomyopathy Cardiac amyloidosis

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Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

Key Points

Structured PICO

Discussion

Implication

Cite This Study

Topics

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

Key Points

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Topics

Also Consider