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

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 MY

SUBMITTER: Mavilakandy A 

PROVIDER: S-EPMC8921845 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature