Conotruncal Heart Malformations (CTHM)

Alias:

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

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Conotruncal Heart Malformations, also known as conotruncal anomaly face syndrome, is related to velocardiofacial syndrome and heart septal defect. An important gene associated with Conotruncal Heart Malformations is NKX2-6 (NK2 Homeobox 6), and among its related pathways/superpathways are Nervous system development and Heart development. The drugs Pirfenidone and Atezolizumab have been mentioned in the context of this disorder. Affiliated tissues include Heart and lung, and related phenotypes are truncus arteriosus and abnormal heart valve morphology

Related ID：

MALACARDS：CNT061

OMIM：217095

MESH：D004310

ICD11：1832500366