Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.
BACKGROUND
Deficiency of the sarcolemmal protein dystrophin has been linked to dilated cardiomyopathy. Some children with congenital muscular dystrophy have a deficiency of the laminin alpha2 chain of merosin, an extracellular matrix protein linked to dystrophin through a group of glycoproteins. It has been shown that deficiency in one of these glycoproteins is responsible for muscular dystrophy and dilated cardiomyopathy. Children with laminin alpha2 deficiency may be at risk for development of cardiomyopathy.


RESULTS
We studied the cardiac function of a cohort of 16 children with congenital muscular dystrophy by using 2-dimensional echocardiography. The expression of the laminin alpha2 of merosin in the patients was determined on a skin or muscle biopsy. Two of 6 merosin-deficient children had an ejection fraction <40%. The average ejection fraction of the merosin-deficient children was 43%+/-11%, which was significantly lower than the merosin-positive children (53%+/-5%, P=.03).


CONCLUSIONS
This study suggests that a deficiency of laminin alpha2 can give rise to dilated cardiomyopathy, supporting the idea that defects of dystrophin, or of associated proteins, can cause dilated cardiomyopathy in addition to muscular dystrophy.
Spyrou
N
N
MRC Clinical Sciences and the Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, United Kingdom.
Philpot
J
J
Foale
R
R
Camici
P G
PG
Muntoni
F
F
D000293:Adolescent; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000209:etiology* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D008297:Male; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000150:complications* / Q000000981:diagnostic imaging / Q000378:metabolism; D012867:Skin / Q000378:metabolism; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000209:etiology* / Q000378:metabolism
D007797:Laminin