Hypoplastic Left Heart Syndrome (HLHS)

左心室发育不良综合症(来自翻译大模型)

别称:

Hlhs

Atresia or Marked Hypoplasia, of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle with Mitral Valve Atresia

Atresia or Marked Hypoplasia of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle

Hypoplasia of Aortic Valve, in Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, in Hypoplastic Left Heart Syndrome

Atresia of Mitral Valve, in Hypoplastic Left Heart Syndrome

Aortic Valve Atresia, in Hypoplastic Left Heart Syndrome

Hlhs - [hypoplastic Left Heart Syndrome]

Left Heart Hypoplasia Syndrome

Hypoplasia of the Left Heart

Hypoplastic Left Heart

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

先天性左心室发育不良，也称为HLHS，与主动脉瓣疾病1和雅各布森综合症有关。与先天性左心室发育不良相关的基因是TBX20（T-Box转录因子20），其相关通路/超级通路包括心脏传导和人类胚胎干细胞多能性。在该疾病的背景下提到了药物阿姆布森坦和波森坦。附属组织包括心脏和皮肤，相关表型为先天性左心室发育不良和先天性主动脉弓发育不良。

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