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Cardiac involvement in limb-girdle muscular dystrophy 2I

Conventional cardiac diagnostic and cardiovascular magnetic resonance

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Abstract

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.

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Acknowledgement

The study was supported by a grant from the Deutsche Gesellschaft für Muskelkranke. MD and CG were supported by the Roux-Program of the University of Halle-Wittenberg.

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Authors and Affiliations

  1. Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Straße 40, 06097, Halle/Saale

    C. Gaul, M. Deschauer, H.U. Klein & S. Zierz

  2. Department of Neurology II, Otto-von-Guericke-University, Magdeburg, Germany

    C. Tempelmann & S. Vielhaber

  3. Department of Cardiology, Angiology and Pneumology, Otto-von-Guericke-University, Magdeburg, Germany

    H.J. Heinze & F. Grothues

Authors
  1. C. Gaul
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  2. M. Deschauer
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  3. C. Tempelmann
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  4. S. Vielhaber
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  5. H.U. Klein
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  6. H.J. Heinze
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  7. S. Zierz
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  8. F. Grothues
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Corresponding author

Correspondence to C. Gaul.

Additional information

Received in revised form: 23 February 2006

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Gaul, C., Deschauer, M., Tempelmann, C. et al. Cardiac involvement in limb-girdle muscular dystrophy 2I. J Neurol 253, 1317–1322 (2006). https://doi.org/10.1007/s00415-006-0213-0

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  • DOI: https://doi.org/10.1007/s00415-006-0213-0

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