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    Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy

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    Author
    Mavilakandy, Akash
    Keyword
    arrhythmias
    hypertrophic cardiomyopathy
    genetic screening
    Date
    2022-03
    
    Metadata
    Show full item record
    Publisher's URL
    https://casereports.bmj.com/content/15/3/e244573
    Abstract
    In this study, we discuss a female patient referred to cardiology with left ventricular hypertrophy at mid-ventricular segments resulting in a mid-cavitary obstruction and a left ventricular apical aneurysm. The patient had normal epicardial coronary arteries, but presented with recurrent cerebrovascular events. The patient had a positive family history for sudden cardiac death. Cardiac MRI detected positive features of left ventricular mid-cavity obstruction, left ventricular apical aneurysm and delayed gadolinium enhancement, with Holter monitoring assessment displaying segments of non-sustained ventricular tachycardia. Genetic analysis detected an myosin light chain 3 (MYL3) gene mutation. The patient will be referred to receive an implantable cardioverter defibrillator.The MYL3 gene mutation is a rare variant in patients with familial hypertrophic cardiomyopathy. To our knowledge, the presence of a left ventricular apical aneurysm has not been previously reported in literature concerning the MYL3 gene mutation. The presence of this abnormality further increases the risk of sudden cardiac death.
    Citation
    Mavilakandy, A., & Ahamed, H. (2022). Mutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathy. BMJ case reports, 15(3), e244573. https://doi.org/10.1136/bcr-2021-244573
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15299
    Collections
    Genetics
    Cardiology

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