Conotruncal heart malformations

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).

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Aliases

• conotruncal anomaly face syndrome
• conotruncal cardiac defects
• conotruncal heart malformations
• conotruncal heart malformations
• CTHM
• Double-outlet right ventricle
• interrupted aortic Arch
• persistent truncus arteriosus
• Taussig-Bing syndrome or defect
• truncus arteriosus communis