Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic magyar-path study

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 ov...

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Bibliographic Details
Main Authors: Nemes Attila
Dézsi Livia
Domsik Péter
Kalapos Anita
Forster Tamás
Vécsei László
Format: Article
Published: 2017
Series:QUANTITATIVE IMAGING IN MEDICINE AND SURGERY 7 No. 6
doi:10.21037/qims.2017.10.09

mtmt:3312341
Online Access:http://publicatio.bibl.u-szeged.hu/15731
Description
Summary: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. © Quantitative Imaging in Medicine and Surgery. All rights reserved.
Physical Description:685-690
ISSN:2223-4292