Atrioventricular Septal Defect (AVSD)

心室间隔缺损(来自翻译大模型)

别称:

Atrioventricular Canal Defect

Avsd

Endocardial Cushion Defect

Avc Defect

Avcd

Ecd

Intermediate Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valvar Orifices

Transitional Atrioventricular Septal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valves

Intermediate Atrioventricular Canal Defect with Atrial and Ventricular Components and Separate Atrioventricular Valve

Atrioventricular Septal Defect with Atrial Shunting and Restrictive Ventricular Shunting

Atrioventricular Canal Defect Associated with a Restrictive Ventricular Septal Defect

Incomplete Atrioventricular Septal Defect with Isolated Atrial Component

Incomplete Atrioventricular Canal Defect with Isolated Atrial Component

Complete Atrioventricular Canal with Atrial and Ventricular Components

Atrioventricular Canal Defect with Isolated Ventricular Communication

Partial Atrioventricular Canal Defect with Isolated Atrial Component

Atrioventricular Septal Defect with Isolated Ventricular Component

Atrioventricular Canal Defect with Isolated Ventricular Component

Partial Atrioventricular Septal Defect, Ostium Primum Type

Atrioventricular Septal Defect, Susceptibility to, 1

Atrioventricular Defect with Atrial Shunting Only

Intermediate Atrioventricular Septal Defect

Transitional Atrioventricular Septal Defect

Intermediate Atrioventricular Canal Defect

Transitional Atrioventricular Canal Defect

Complete Atrioventricular Septal Defect

Complete Atrioventricular Canal Defect

Partial Atrioventricular Septal Defect

Partial Atrioventricular Canal Defect

Ostium Primum Atrial Septal Defect

Atrioventricular Septal Defect 1

Septal Defect, Atrioventricular

Endocardial Cushion Defects

Primum Atrial Septal Defect

Atrial Septum Primum Defect

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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

心室间隔缺损，又称为心室间隔缺损，与先天性心脏病、多种类型、4和右心房异构性有关。与心室间隔缺损相关的重要基因是SMARCAL1（SWI/SNF相关、矩阵相关、肌动蛋白依赖性染色质调节因子亚家族A类似1），其相关通路/超级通路包括神经系统发育和人胚胎干细胞多能性。在该疾病的背景下，已提到的药物有苯佐卡因和依那普利。附属组织包括心脏和肺，相关表型为生长/大小/身体区域和稳态/新陈代谢。

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