HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

The heart in limb girdle muscular dystrophy.

AbstractOBJECTIVE:
To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes.
DESIGN:
In 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic strictly defined patients with limb girdle muscular dystrophy, cardiac evaluation included history, physical examination, chest x ray, electrocardiography, 24 hour ECG Holter monitoring, and echocardiography. In 35 of the 71 autosomal recessive and sporadic cases muscle biopsies were available for sarcoglycan analysis.
MAIN RESULTS:
Dilated cardiomyopathy was present in one autosomal dominant case and in three advanced autosomal recessive or sporadic patients, of whom two were found to have alpha sarcoglycan deficiency. Two of these three patients and three other cases showed ECG abnormalities known to be characteristic of the dystrophinopathies. A strong association between the absence of alpha sarcoglycan and the presence of dilated cardiomyopathy was found (p = 0.04). In six autosomal dominant cases there were atrioventricular (AV) conduction disturbances, increasing in severity with age and in concomitant presence of muscle weakness. Pacemaker implantation was necessary in four.
CONCLUSIONS:
10% of these patients had clinically relevant cardiac abnormalities. In autosomal dominant limb girdle muscular dystrophy one subtype characterised by muscle weakness and AV conduction disturbances is recognised. In the course of autosomal recessive/sporadic limb girdle muscular dystrophy, dilated cardiomyopathy may develop, probably related to deficiency of dystrophin associated proteins.
AuthorsA J van der Kooi, W G de Voogt, P G Barth, H F Busch, F G Jennekens, P J Jongen, M de Visser
JournalHeart (British Cardiac Society) (Heart) Vol. 79 Issue 1 Pg. 73-7 (Jan 1998) ISSN: 1355-6037 [Print] ENGLAND
PMID9505924 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Glycoproteins
  • Sarcoglycans
Topics
  • Adolescent
  • Adult
  • Aged
  • Cardiomyopathy, Dilated (etiology)
  • Child
  • Cross-Sectional Studies
  • Cytoskeletal Proteins (deficiency, genetics)
  • Dystrophin (genetics)
  • Echocardiography
  • Electrocardiography, Ambulatory
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genotype
  • Humans
  • Male
  • Membrane Glycoproteins (deficiency, genetics)
  • Middle Aged
  • Muscle, Skeletal (physiopathology)
  • Muscular Dystrophies (complications, genetics)
  • Sarcoglycans

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research network!


Choose Username:
Email:
Password:
Verify Password: