Left ventricular noncompaction in a family with lamin A/C gene mutation

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John J Parent, Jeffrey A Towbin, John L Jefferies

    Texas Heart Institute Journal
    |April 16, 2015
    PubMed

    Insights

    Genetic mutations in the Lamin A/C gene are rarely linked to left ventricular noncompaction (LVNC) cardiomyopathy. This study identified a Lamin A/C mutation in a family, with three members exhibiting LVNC phenotypes.

    Area of Science:

    • Cardiology
    • Genetics
    • Molecular Biology

    Background:

    • Left ventricular noncompaction (LVNC) is a rare cardiomyopathy with largely unknown genetic underpinnings.
    • Lamin A/C gene mutations are typically associated with dilated cardiomyopathy and conduction system diseases, not frequently with LVNC.

    Keywords:
    Arginine/geneticscardiomyopathies/geneticscysteine/geneticsechocardiographygenetic testinggenotypelamin C/geneticslamin type A/geneticslaminopathyleft ventricular noncompactionmagnetic resonance imagingmutationpedigreephenotypeproteins/genetics

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