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. 1998 Jan;79(1):73–77. doi: 10.1136/hrt.79.1.73

The heart in limb girdle muscular dystrophy

A J van der Kooi 1, W G de Voogt 1, P Barth 1, H Busch 1, F Jennekens 1, P Jongen 1, M de Visser 1
PMCID: PMC1728583  PMID: 9505924

Abstract

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.
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 α 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 α 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.

 Keywords: limb girdle muscular dystrophy;  cardiomyopathy;  AV conduction block;  sarcoglycan

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Figure 1  .

Figure 1  

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Rhythm strip of a member of the autosomal dominant families characterised by muscle weakness and atrioventricular conduction disturbances. After electroconversion from atrial fibrillation to sinus rhythm, total atrioventricular block with junctional escape rhythm, and a ventricular extrasystole were noted (paper speed 25 mm/s).

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