摘要
目的探讨儿童线粒体病心脏损害的临床表现。方法对23例线粒体病患儿临床资料进行回顾性分析,包括询问病史、体格检查、心电图、超声心动图和心肌酶谱、病理检查、分子遗传学检查。结果15例线粒体脑病-乳酸血症-卒中样发作综合征(MELAS综合征)患儿中,9例行心电图检查6例异常;9例行超声心动图检查,1例发现肥厚性心肌病;12例行心肌酶谱检查,6例CK-MB质量升高,1例心肌肌钙蛋白I(cTnI)升高。8例亚急性坏死性脑脊髓病(Leigh综合征)患儿中,5例行心电图检查,4例异常;2例行超声心动图均未发现异常;6例行心肌酶谱检查,3例CK-MB质量增高。13例MELAS综合征患儿行分子遗传学检测,9例发现外周血白细胞线粒体DNA(mtDNA)存在3243位点A→G突变。6例Leigh综合征患儿行分子遗传学检测,2例发现外周血白细胞mtDNA存在8993位点T→C突变。结论线粒体病并心肌损伤常见,且会导致心肌病发生。
Objective To explore the clinical characteristics of cardiac involvement in children with mitochondriopathie.s, Methods The clinical data of 23 children with mitochondriopathies were reviewed. The changes of electrocardiography, echocardiography and heart enzymes were analyzed, Results In 15 cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke - like episode （MELAS syndrome） ,electrocardiography was perfomed on 9 cases, 6 of then： showed abnormal electrocardiographic findings, including right bundle branch block, ST T change, Wolff- Parkinson - White syndrome, et al. On echocardiographic exam/nation in 9 MELAS syndrome ca- ses,only 1 cKse showed hypertrophy cardiomyopathy. Six cases had increased plasma creatine kinase MB （CK - MB） mass and only one of 12 MELAS syndrome case,s had increased cardiac troponin I （cTnl） level. In 8 eases of suhacute necrotizing encephalomyopathy （Leigh syndronm）, electrocaMiography was performed on 5 eases, 4 of then： showed abnormal electrocardiographic findings, including sinus tachycardia, ST - T change and low voltage. Two cases showed normal electrocardiography. Three out of 6 cases with Leigh syndrome showed increased plasma CK - MB mass. The molecular genetic examinations were performed in 13 case,s of MELAS syndrome and 6 cams of Leigh syndrome. The mitochondrial DNA nt 3243 A→G mutation was found in white blood cells of 9 MELAS syndrome cases, the mutation rate being 37% - 60%, The mitochondrial DNA nt 8993 T→C mutation was found in white blood cells of 2 Leigh syndrome cases.Conclusion In children with mitochondriopathies, myocardiac involvement is comparatively common, and even cardiomyopathy can occur.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2006年第1期12-13,共2页
Journal of Applied Clinical Pediatrics
基金
国家杰出青年科学基金项目资助(30425010)
关键词
线粒体病
儿童
心脏损害
mitochondriopathies
children
cardiac involvement
