The heart in limb girdle muscular dystrophy.
OBJECTIVE
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.


METHODS
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.


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.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
de Voogt
W G
WG
Barth
P G
PG
Busch
H F
HF
Jennekens
F G
FG
Jongen
P J
PJ
de Visser
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000209:etiology*; D002648:Child; D003430:Cross-Sectional Studies; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D004452:Echocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D005838:Genotype; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans