Conotruncal Heart Malformations (CTHM)

心脏圆锥动脉干畸形(来自ICD-11)

别称:

Conotruncal Anomaly Face Syndrome

Persistent Truncus Arteriosus

Common Arterial Trunk

Truncus Arteriosus

Conotruncal Heart Malformations, Variable

Truncus Arteriosus Communis

Cthm

Tac

Truncus Arteriosus with Pulmonary Dominance and Interrupted Aortic Arch

Common Arterial Trunk with Interrupted Aortic Arch

Truncus Arteriosus with Interrupted Aortic Arch

Truncus Arteriosus with No Aortic Obstruction

Persistent Truncus Arteriosus or Communis

Truncus Arteriosus with Aortic Dominance

Van Praagh Truncus Arteriosus Type A4

Heart Malformations, Conotruncal

Common Aortico-Pulmonary Trunk

Common Aorticopulmonary Trunk

Double-Outlet Right Ventricle

Conotruncal Heart Defects

Common Truncus Arteriosus

Truncus Communis

Common Truncus

Dorv

Cafs

Cthd

Pta

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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

心内膜垫缺损，又称心内膜垫异常面容综合征，与血管性心脏病面容综合征和心脏室间隔缺损有关。与心内膜垫缺损相关的基因是NKX2-6（NK2同源盒6），其相关通路/超级通路包括神经系统发育和心脏发育。在该疾病的背景下提到了吡非尼酮和阿特佐利单抗。相关组织包括心脏和肺，相关表型包括动脉干和异常心脏瓣膜形态。

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