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

Attila Nemes, Lívia Dézsi, Péter Domsik, Anita Kalapos, T. Forster, L. Vécsei

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)685-690
Number of pages6
JournalQuantitative Imaging in Medicine and Surgery
Volume7
Issue number6
DOIs
Publication statusPublished - Dec 1 2017

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Keywords

  • Calpainopathy
  • Left ventricular rotation (LV rotation)
  • Limb-girdle muscular dystrophy type 2A (LGMD2A)
  • Speckle-tracking echocardiography

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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