A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome

Tsujita, Yasuyuki; Takeo, Kunitomo; Fujii, Masazumi; Furukawa, Shoei; Otsuki, Hideki; Fujino, Kazunori; Hamamoto, Tetsu; Tabata, Toshihide; Matsumura, Kazuhiro; Sasaki, Teiji; Saotome, Takao; Kawai, Hiromichi; Matsumoto, Tetsuya; Maeda, Kengo; Horie, Minoru; Eguchi, Yawara

doi:10.1016/j.ijcard.2007.05.072

Cited by 18 publications

(11 citation statements)

References 6 publications

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“…In addition, this mutation was reported in several mitochondrial diseases such as mitochondrial diabetes, myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy (Frederiksen et al, 2009). In fact, the m.3243A4G mutation was described associated with hypertrophic cardiomyopathy (Ito et al, 1992;Majamaa-Voltti et al, 2002), and with dilated cardiomyopathy (Tsujita et al, 2008;Vilarinho et al, 1997). In this study, the m.3243A4G is described in the first time associated to dilated cardiomyopathy in Tunisian population when it was previously described only in 1.07% in Tunisian diabetic population (Bouhaha et al, 2010) but it was absent in Tunisian patients with several mitochondrial diseases (Mezghani et al, 2010;Mkaouar-Rebai et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

Alila

Rebai

Tabebi

et al. 2015

Mitochondrial DNA Part A

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Pathogenic mitochondrial DNA (mtDNA) mutations leading to mitochondrial dysfunction can cause cardiomyopathy and heart failure. These mutations were described in the mt-tRNA genes and in the mitochondrial protein-coding genes. The aim of this study was to identify the genetic defect in two patients belonging to two families with cardiac dysfunction associated to a wide spectrum of clinical phenotypes. The sequencing analysis of the whole mitochondrial DNA in the two patients and their parents revealed the presence of known polymorphisms associated to cardiomyopathy and two pathogenic mutations in DNA extracted from blood leucocytes: the heteroplasmic m.3243A > G mutation in the MT-TL1 gene in patient A; and the homoplasmic m.5182C > T mutation in the ND2 gene in patient B. Secondary structure analysis of the ND2 protein further supported the deleterious role of the m.5182C > T mutation, as it was found to be involved an extended imbalance in its hydrophobicity and affect its function. In addition, the mitochondrial variants identified in patients A and B classify both of them in the same haplogroup H2a2a1.

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Section: Discussionmentioning

confidence: 99%

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

Alila

Rebai

Tabebi

et al. 2015

Mitochondrial DNA Part A

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“…Although she had never experienced a stroke-like episode, her basal ganglia findings on brain computed tomography are commonly seen in MELAS. Some cases with the A3243G mutation that had no central nervous system symptoms have been reported [4,5]. Differences in the relative abundance of mutant mtDNAs and their tissue distribution are thought to cause the variability in the clinical manifestations of MELAS [1].…”

Section: Discussionmentioning

confidence: 99%

A case of mitochondrial disease with severe left ventricular hypertrophy

et al. 2011

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A 35-year-old woman was admitted for progressive dyspnea with lower limb edema. Transthoracic echocardiography showed severe left ventricular hypertrophy (LVH) and heart failure with preserved ejection fraction (HFPEF). Electron microscopy of an endomyocardial biopsy sample revealed a high density of mitochondria of abnormal size and shape. We report a case of mitochondrial disease with severe LVH and HFPEF.

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“…The association of Lerichesyndrome with dCMP has been previously reported [5] as well as the association of coronary artery disease with Leriche-syndrome [6]. More frequently, however, is the association of dCMP and metabolic myopathy [7,8].…”

mentioning

confidence: 85%

Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease

Finsterer

Stöllberger

2015

International Journal of Cardiology

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A surviving case of mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome

Cited by 18 publications

References 6 publications

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes

A case of mitochondrial disease with severe left ventricular hypertrophy

Leriche-syndrome despite regular sport and non-compaction suggest neuromuscular disease

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