/conotruncal heart malformations

conotruncal heart malformations

Rare Disease

MONDO:0016581

Also Known As

Taussig-Bing syndrome or defectconotruncal heart malformationsconotruncal heart malformations, variableCTHMDouble-outlet right ventricleconotruncal anomaly face syndromeconotruncal cardiac defectsinterrupted aortic Archpersistent truncus arteriosustruncus arteriosus communis

Definition

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).