Document Detail

Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.
MedLine Citation:
PMID:  16786213     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: The C826A mutation in the fukutin-related protein (FKRP) gene is typically associated with autosomal recessive limb-girdle muscular dystrophy 2I (LGMD2I) but oligosymptomatic phenotypes and patients with predominant cardiac involvement are also described. OBJECTIVE: To assess cardiac involvement in patients with LGMD2I. PATIENTS: Nine patients from 5 families (2 female, 7 male) homozygous for the 826C > A FKRP mutation were included. METHODS: Additional to conventional cardiac investigations (electrocardiography and echocardiography) the patients underwent cardiovascular magnetic resonance imaging (CMR). RESULTS/CONCLUSION: Cardiac involvement was detected by CMR in eight of nine patients (reduced left ventricular ejection fraction in 6, enlargement of left ventricular end-diastolic volume in 2 and left ventricular mass in 2) and in four patients by conventional cardiac diagnostic investigations. Two of the nine patients showed no muscle weakness or atrophy but suffered myalgias; both had cardiac manifestation of the disease. CMR is a sensitive method for detecting cardiac abnormalities in patients with LGMD2I and can be used for early detection of mild or subclinical cardiac involvement.
C Gaul; M Deschauer; C Tempelmann; S Vielhaber; H U Klein; H J Heinze; S Zierz; F Grothues
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-06-19
Journal Detail:
Title:  Journal of neurology     Volume:  253     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2006 Oct 
Date Detail:
Created Date:  2006-11-06     Completed Date:  2007-02-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1317-22     Citation Subset:  IM    
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Strasse 40, 06097, Halle/Saale.
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MeSH Terms
Heart Diseases / diagnosis,  etiology*
Heart Function Tests
Heart Ventricles / physiopathology
Magnetic Resonance Imaging
Middle Aged
Muscular Dystrophies, Limb-Girdle / complications*,  physiopathology
Pain / etiology
Proteins / genetics
Reg. No./Substance:
0/FKRP protein, human; 0/Proteins

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