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Conotruncal heart malformations

MONDO:0016581

Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).

Also known as: Taussig-Bing syndrome or defect, conotruncal heart malformations, conotruncal heart malformations, variable, CTHM, Double-outlet right ventricle, conotruncal anomaly face syndrome, conotruncal cardiac defects, interrupted aortic Arch

40 clinical trials for this condition and its sub-types.

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Sub-types

Tetralogy of fallot (32) Persistent truncus arteriosus (8) Double outlet right ventricle (2) Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis (1) Pulmonary atresia with ventricular septal defect (1) Abnormal origin of the pulmonary artery (0) Common arterial trunk with aortic dominance (0) Common arterial trunk with pulmonary dominance and interrupted aortic arch (0) Congenital aortopulmonary window (0) Double outlet left ventricle (0) Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy (0) Double outlet right ventricle with non-committed subpulmonary ventricular septal defect (0) Double outlet right ventricle with subaortic or doubly committed ventricular septal defect (0) Double outlet right ventricle with subpulmonary ventricular septal defect (0) Isolated pulmonary artery sling (0) Pulmonary artery coming from patent ductus arteriosus (0) Pulmonary artery coming from the aorta (0) Pulmonary valve agenesis (0) Pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome (0) Pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome (0)

Broader categories

Cardiovascular disorder (1051) Disease (680) Human disease (14) Congenital anomaly of cardiovascular system (5) Congenital heart malformation (3) Disease by body system or component (0) Disease by developmental or physiological process (0) Disorder of development or morphogenesis (0)
Trials to join now! 12 Not yet recruiting 7 Not yet finished but already full! 12 Completed 8 Terminated 1
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