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dc.contributor.authorMavilakandy, Akash
dc.date.accessioned2022-03-24T11:25:39Z
dc.date.available2022-03-24T11:25:39Z
dc.date.issued2022-03
dc.identifier.citationMavilakandy, 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-2021-244573en_US
dc.identifier.other10.1136/bcr-2021-244573
dc.identifier.urihttp://hdl.handle.net/20.500.12904/15299
dc.description.abstractIn 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.
dc.description.urihttps://casereports.bmj.com/content/15/3/e244573en_US
dc.subjectarrhythmiasen_US
dc.subjecthypertrophic cardiomyopathyen_US
dc.subjectgenetic screeningen_US
dc.titleMutation of the MYL3 gene in a patient with mid-ventricular obstructive hypertrophic cardiomyopathyen_US
dc.typeArticleen_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US
rioxxterms.versionNAen_US
rioxxterms.versionofrecordhttps://doi.org/10.1136/bcr-2021-244573en_US
rioxxterms.typeJournal Article/Reviewen_US
refterms.panelUnspecifieden_US
html.description.abstractIn 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.en_US


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