Atrioventricular Septal Defect (AVSD)

Alias:

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

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Atrioventricular Septal Defect, also known as atrioventricular canal defect, is related to congenital heart defects, multiple types, 4 and right atrial isomerism. An important gene associated with Atrioventricular Septal Defect is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. The drugs Benzocaine and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related ID：

MALACARDS：ATR001

OMIM：606215

MESH：D004694

ICD11：1159570489