The heart in limb girdle muscular dystrophy
- A J van der Kooia,
- W G de Voogtb,
- P G Bartha,
- H F M Buschc,
- F G I Jennekensd,
- P J H Jongene,
- M de Vissera
- aDepartment of Neurology, Academic Medical Centre, Amsterdam, The Netherlands, bDepartment of Cardiology, St Lucas Hospital, Amsterdam, The Netherlands, cDepartment of Neurology, Academic Hospital Dijkzigt, Rotterdam, The Netherlands, dDepartment of Neurology, Academic Hospital Utrecht, The Netherlands, eDepartment of Neurology, Academic Hospital Nijmegen, The Netherlands
- Dr A J van der Kooi, Academical Medical Centre, Department of Neurology, PO Box 22700, 1100 DE Amsterdam, The Netherlands.
- Accepted 5 September 1997
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.
