Related Experiment Videos
The heart in limb girdle muscular dystrophy
A J van der Kooi1, W G de Voogt, P G Barth
1Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Heart (British Cardiac Society)
|March 20, 1998
Summary
Cardiac abnormalities are common in limb girdle muscular dystrophy (LGMD). Dilated cardiomyopathy is linked to alpha sarcoglycan deficiency in some LGMD types, while atrioventricular conduction disturbances affect others.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Limb girdle muscular dystrophy (LGMD) is a group of inherited muscle disorders.
- Cardiac involvement in LGMD is not fully understood.
- Assessing cardiac abnormalities is crucial for patient management.
Purpose of the Study:
- To determine the frequency, characteristics, and severity of cardiac issues in LGMD patients.
- To explore the relationship between cardiac abnormalities, age, and muscle weakness across different LGMD genotypes.
Main Methods:
- Cardiac evaluation in 26 autosomal dominant, 38 autosomal recessive, and 33 sporadic LGMD patients.
- Methods included clinical assessment, ECG, Holter monitoring, and echocardiography.
- Muscle biopsies for sarcoglycan analysis in 35 cases.
Main Results:
- Dilated cardiomyopathy occurred in 1/26 autosomal dominant and 3/71 autosomal recessive/sporadic LGMD patients.
- Alpha sarcoglycan deficiency was associated with dilated cardiomyopathy (p=0.04).
- Atrioventricular conduction disturbances were noted in 6 autosomal dominant cases, worsening with age and weakness.
Conclusions:
- Clinically significant cardiac abnormalities were present in 10% of LGMD patients.
- A subtype of autosomal dominant LGMD with muscle weakness and AV conduction disturbances is identified.
- Dilated cardiomyopathy in autosomal recessive/sporadic LGMD may stem from deficiencies in dystrophin-associated proteins.