Severe reversible cardiomyopathy in four unrelated infants associated with mitochondrial DNA D-Loop heteroplasmy

被引:5
作者
Boles, RG
Luna, C
Ito, M
机构
[1] Childrens Hosp Los Angeles, Div Med Genet, Los Angeles, CA 90027 USA
[2] Univ So Calif, Keck Sch Med, Dept Pediat, Los Angeles, CA 90027 USA
[3] Childrens Hosp Los Angeles, Div Cardiol, Los Angeles, CA 90027 USA
关键词
cardiomyopathy; infancy; mitochondrial DNA; control region; D-loop; heteroplasmy;
D O I
10.1007/s00246-002-0263-8
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Inherited disorders of energy metabolism are increasingly being recognized as important causes of cardiomyopathy in children. We previously reported that heteroplasmic point substitutions in the mitochondrial DNA D-loop were found in 15 of 75 children at risk for mitochondrial disease (vs 0/95 controls). Four of these cases presented with severe cardiomyopathy in congestive failure in addition to other anomalies and are presented here. In each case, myocardial dysfunction greatly improved following supportive therapy aimed at reversing both congestive failure and catabolism. D-loop point heteroplasmy may be a marker for severe, reversible, infantile multisystem disease that can present with cardiomyopathy.
引用
收藏
页码:484 / 487
页数:4
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