Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance.

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.

• Authors: C Gaul, M Deschauer, C Tempelmann, S Vielhaber, H U Klein, H J Heinze, S Zierz, F Grothues
• Journal: Journal of neurology (J Neurol) Vol. 253 Issue 10 Pg. 1317-22 (Oct 2006) ISSN: 0340-5354 [Print] Germany
• PMID: 16786213 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Proteins
• FKRP protein, human
• Pentosyltransferases

Topics

• Adolescent
• Adult
• Echocardiography
• Electrocardiography
• Female
• Heart Diseases (diagnosis, etiology)
• Heart Function Tests
• Heart Ventricles (physiopathology)
• Humans
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Muscular Dystrophies, Limb-Girdle (complications, physiopathology)
• Pain (etiology)
• Pentosyltransferases
• Proteins (genetics)