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Left ventricular deformation abnormalities in a patient with calpainopathy—a case from the three-dimensional speckletracking echocardiographic MAGYAR-Path Study

   
@article{QIMS17403,
	author = {Attila Nemes and Lívia Dézsi and Péter Domsik and Anita Kalapos and Tamás Forster and László Vécsei},
	title = {Left ventricular deformation abnormalities in a patient with calpainopathy—a case from the three-dimensional speckletracking echocardiographic MAGYAR-Path Study},
	journal = {Quantitative Imaging in Medicine and Surgery},
	volume = {7},
	number = {6},
	year = {2017},
	keywords = {},
	abstract = {Calpainopathy or limb-girdle muscular dystrophy type 2A (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophies. The disease is caused by mutations in the CAPN3 gene encoding calpain, a protein involved in muscle membrane remodeling and repair. This paper gives an overview of the genetic background, clinical course, and diagnosis of the disease, and presents the first case of calpainopathy in which cardiac deformation mechanics was investigated. Three-dimensional speckle-tracking echocardiography (3DSTE) demonstrated reduced left ventricular (LV) strains and increased LV apical rotation and twist, suggestive of asymptomatic subclinical LV dysfunction. Cardiac involvement has not been previously reported in calpainopathy.},
	issn = {2223-4306},	url = {https://qims.amegroups.org/article/view/17403}
}