Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy

Hirono Keiichi; Hata Yukiko; Nakazawa Makoto; Momoi Nobuo; Tsuji Tohru; Matsuoka Taro; Ayusawa Mamoru; Abe Yuriko; Hayashi Tamaki; Tsujii Nobuyuki; Abe Tadaaki; Sakaguchi Heima; Wang Ce; Takasaki Asami; Takarada Shinya; Okabe Mako; Miyao Nariaki; Nakaoka Hideyuki; Ibuki Keijiro; Saito Kazuyoshi; Ozawa Sayaka; Nishida Naoki; Bowles Neil E.; Ichida Fukiko

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Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy

机译：Tafazzin变体对初期初期左心室非压实患者扩张心肌病表型的临床和超声心动图

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Background: Left ventricular non-compaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium and numerous prominent trabeculations, and is often associated with dilated cardiomyopathy (DCM). Variants in the gene encoding tafazzin (TAZ) may change mitochondrial function and cause dysfunction of many organs, but they also contribute to the DCM phenotype in LVNC, and the clinical and echocardiographic features of children with this phenotype are poorly understood.

机译：背景：左心室非压实（LVNC）是一种形态学，其形态学，其特征在于2层心肌和许多突出的三相结构，并且通常与扩张的心肌病（DCM）相关。编码Tafazzin（TAZ）的基因中的变体可能会改变线粒体功能并引起许多器官的功能障碍，但它们也有助于LVNC中的DCM表型，并且这种表型儿童的临床和超声心动图特征被理解得很差。

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来源
《Circulation journal》 |2018年第10期|共10页
作者
Hirono Keiichi; Hata Yukiko; Nakazawa Makoto; Momoi Nobuo; Tsuji Tohru; Matsuoka Taro; Ayusawa Mamoru; Abe Yuriko; Hayashi Tamaki; Tsujii Nobuyuki; Abe Tadaaki; Sakaguchi Heima; Wang Ce; Takasaki Asami; Takarada Shinya; Okabe Mako; Miyao Nariaki; Nakaoka Hideyuki; Ibuki Keijiro; Saito Kazuyoshi; Ozawa Sayaka; Nishida Naoki; Bowles Neil E.; Ichida Fukiko;
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作者单位

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Legal Med Toyama Japan;

Southern Tohoku Gen Hosp Southern Tohoku Res Inst Neurosci Dept Pediat Koriyama Fukushima Japan;

Fukushima Med Univ Dept Pediat Fukushima Japan;

Fukushima Med Univ Dept Pediat Fukushima Japan;

Toyonaka City Hosp Dept Pediat Toyonaka Osaka Japan;

Nihon Univ Sch Med Dept Pediat &

Child Hlth Tokyo Japan;

Nihon Univ Sch Med Dept Pediat &

Child Hlth Tokyo Japan;

Nara Med Univ Dept Pediat Kashihara Nara Japan;

Nara Med Univ Dept Pediat Kashihara Nara Japan;

Niigata City Gen Hosp Dept Pediat Niigata Japan;

Natl Cerebral &

Cardiovasc Ctr Dept Pediat Cardiol Suita Osaka Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

Univ Toyama Grad Sch Med Legal Med Toyama Japan;

Univ Utah Dept Occupat &

Environm Hlth &

Safety Salt Lake City UT USA;

Univ Toyama Grad Sch Med Dept Pediat 2630 Sugitani Toyama 9300194 Japan;

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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;
关键词
Cardiomyopathy; Left ventricular non-compaction; Tafazzin (TAZ);

机译：心肌病;左心室不压实;Tafazzin（TAZ）;

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专利

1. Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy [J] . Keiichi Hirono, Yukiko Hata, Makoto Nakazawa, Circulation journal . 2018,第10期

机译：Tafazzin变体对初期初期左心室非压实患者扩张心肌病表型的临床和超声心动图
2. Echocardiographic quantification of regional deformation helps to distinguish isolated left ventricular non-compaction from dilated cardiomyopathy [J] . NiemannM., LiuD., HuK., European journal of heart failure: journal of the Working Group on Heart Failure of the European Society of Cardiology . 2012,第2期

机译：超声心动图量化的区域变形有助于区分孤立的左心室非压迫性与扩张型心肌病
3. Echocardiographic quantification of regional deformation helps to distinguish isolated left ventricular non-compaction fromn dilated cardiomyopathy [J] . Frank Weidemann European Journal of Heart Failure . 2012,第2期

机译：超声心动图量化的区域变形有助于区分孤立的左心室非紧致和扩张型心肌病
4. Comparison of semi-automated and manual measurements of left ventricular volume from 3D echocardiographic studies of patients with cardiomyopathy [C] . Wild, J., Sims, . 2005

机译：心肌病患者3D超声心动图研究对左心室容积的半自动和手动测量的比较
5. Association of Left Ventricular Ejection Fraction with Mortality and Hospitalization in an Unselected Echocardiographic Cohort of both Ambulatory and Hospitalized Patients [D] . Angaran, Paul. 2019

机译：左心室喷射分数在外国汽车和住院患者的未选择超声心动图群中死亡和住院治疗
6. Clinical and echocardiographic differences in patients with dilated cardiomyopathy in the frame depending preserved left ventricular contractile reserve [O] . V Peric, P Otasevic 2013

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Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy

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