呼吸链疾病中的心肌病
Cardiomyopathy in respiratory chain disorders.
作者信息
Guenthard J, Wyler F, Fowler B, Baumgartner R
机构信息
Department of Cardiology, University Children's Hospital of Basel.
出版信息
Arch Dis Child. 1995 Mar;72(3):223-6. doi: 10.1136/adc.72.3.223.
Abstract
Disorders of mitochondrial oxidative phosphorylation may disturb cardiac energy metabolism and cause cardiomyopathy. Twenty one cases from the literature and one further patient with cardiomyopathy due to biochemically defined respiratory chain defects were reviewed for clinical course, morphology, and pathophysiological mechanisms of the cardiomyopathy. All cases showed concentric hypertrophy of the myocardium without an outflow tract obstruction. In most patients the cardiomyopathy was diagnosed early in infancy and showed rapid deterioration with death before the age of 2 years. Hypertrophy of the myocardium appears to result from swelling of the cardiomyocytes caused by accumulation of mitochondria and by morphologically abnormal megamitochondria.
摘要
线粒体氧化磷酸化紊乱可能会干扰心脏能量代谢并导致心肌病。我们回顾了文献中的21例病例以及另外1例因生化定义的呼吸链缺陷导致心肌病的患者，以研究心肌病的临床病程、形态学和病理生理机制。所有病例均表现为心肌向心性肥厚，无流出道梗阻。大多数患者在婴儿早期被诊断出患有心肌病，且病情迅速恶化，在2岁前死亡。心肌肥厚似乎是由线粒体堆积和形态异常的巨型线粒体导致的心肌细胞肿胀引起的。
相似文献
1
Cardiomyopathy in respiratory chain disorders.呼吸链疾病中的心肌病
Arch Dis Child. 1995 Mar;72(3):223-6. doi: 10.1136/adc.72.3.223.
2
Mitochondrial cardiomyopathy--case report.线粒体心肌病——病例报告
Cesk Patol. 2002 Jan;38(1):41-5.
3
Rapid progression of cardiomyopathy in mitochondrial diabetes.线粒体糖尿病中心肌病的快速进展
Jpn Circ J. 1999 Feb;63(2):130-2. doi: 10.1253/jcj.63.130.
4
A case of fatal mitochondrial cardiomyopathy.
Jpn Heart J. 2002 Jan;43(1):61-7. doi: 10.1536/jhj.43.61.
5
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.用于肥厚型心肌病中线粒体疾病早期检测的心内膜心肌活检。
J Pediatr. 1994 Feb;124(2):224-8. doi: 10.1016/s0022-3476(94)70308-6.
6
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.与肥厚型心肌病和3-甲基戊二酸尿症相关的多种呼吸链异常。
Eur J Pediatr. 1993 Aug;152(8):665-70. doi: 10.1007/BF01955244.
7
Increased reactive oxygen species and anti-oxidative response in mitochondrial cardiomyopathy.
Circ J. 2005 May;69(5):617-20. doi: 10.1253/circj.69.617.
8
Cardiomyopathy associated with neurologic disorders and mitochondrial phenotype.与神经疾病和线粒体表型相关的心肌病
J Child Neurol. 2002 Oct;17(10):759-65. doi: 10.1177/08830738020170101701.
9
Severe obstructive hypertrophic cardiomyopathy occurring secondary to mitochondrial disease.继发于线粒体疾病的严重梗阻性肥厚型心肌病。
Turk Kardiyol Dern Ars. 2009 Jul;37(5):332-6.
10
Nemaline myopathy and cardiomyopathy.杆状体肌病和心肌病。
Pediatr Neurol. 1999 Apr;20(4):319-21. doi: 10.1016/s0887-8994(98)00158-1.
引用本文的文献
1
Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.线粒体 DNA 缺失在 Kearns-Sayre 综合征中的细胞和分子反应：一些潜在的机制。
Mol Neurobiol. 2024 Aug;61(8):5665-5679. doi: 10.1007/s12035-024-03938-7.
2
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.线粒体心肌病的分子流行病学：线粒体和核基因的研究
Int J Mol Sci. 2021 May 27;22(11):5742. doi: 10.3390/ijms22115742.
3
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.与腺嘌呤核苷酸转运蛋白 1 缺陷相关的心肌病的严重程度与线粒体 DNA 单倍群相关。
Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
4
A splice site mutation in a gene encoding for PDK4, a mitochondrial protein, is associated with the development of dilated cardiomyopathy in the Doberman pinscher.一个基因的剪接位点突变，该基因编码 PDK4，一种线粒体蛋白，与杜宾犬扩张型心肌病的发生有关。
Hum Genet. 2012 Aug;131(8):1319-25. doi: 10.1007/s00439-012-1158-2. Epub 2012 Mar 25.
5
Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.心血管磁共振成像（CMR）显示线粒体肌病患者心肌损伤的特征模式。
Clin Res Cardiol. 2012 Apr;101(4):255-61. doi: 10.1007/s00392-011-0387-z. Epub 2011 Dec 6.
6
Clinical presentations of mitochondrial cardiomyopathies.线粒体心肌病的临床表现。
Pediatr Cardiol. 2004 Sep-Oct;25(5):443-50. doi: 10.1007/s00246-003-0490-7. Epub 2004 Jun 8.
7
Giant Mitochondria as Possible Bioindicators of Environmental Injuries in Fish Liver.
Pathol Oncol Res. 1997;3(3):20-25. doi: 10.1007/BF02893347.
8
Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.成人神经系统疾病的代谢性先天性缺陷病因：调查方法
J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):5-12. doi: 10.1136/jnnp.69.1.5.
本文引用的文献
1
Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect.
Jpn Heart J. 1993 Jan;34(1):63-77. doi: 10.1536/ihj.34.63.
2
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography.线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）患者经超声心动图评估显示左心室舒张功能降低。
Pediatr Cardiol. 1993 Jul;14(3):162-6. doi: 10.1007/BF00795646.
3
Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency.全身性线粒体微血管病和血管细胞色素c氧化酶缺乏症。发生于一例伴有线粒体心肌病-肌病及复合性Ⅰ/Ⅳ型缺乏的线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征患者。
Arch Pathol Lab Med. 1993 Feb;117(2):202-10.
4
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies.用于肥厚型心肌病中线粒体疾病早期检测的心内膜心肌活检。
J Pediatr. 1994 Feb;124(2):224-8. doi: 10.1016/s0022-3476(94)70308-6.
5
Inherited cardiomyopathies.遗传性心肌病
N Engl J Med. 1994 Mar 31;330(13):913-9. doi: 10.1056/NEJM199403313301308.
6
Mitochondrial cardiomyopathy with involvement of skeletal muscles.线粒体心肌病伴骨骼肌受累。
Virchows Arch A Pathol Anat Histopathol. 1983;399(1):115-25. doi: 10.1007/BF00666223.
7
Mitochondrial myopathies. Clinical, morphological and biochemical aspects.线粒体肌病。临床、形态学及生化方面
Eur J Pediatr. 1984 Feb;141(4):192-207. doi: 10.1007/BF00572761.
8
Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria.
Pediatr Res. 1984 Oct;18(10):1023-8. doi: 10.1203/00006450-198410000-00023.
9
A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.一种线粒体脑肌病：首例辅酶Q水平存在明确缺陷的病例。
Eur J Pediatr. 1986 Feb;144(5):441-4. doi: 10.1007/BF00441735.
10
Mitochondrial myopathies.线粒体肌病
Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602.
Zotero 插件