Article Text
Statistics from Altmetric.com
- CTHD, conotruncal heart defects
- VCFS, velocardiofacial syndrome
- DGS, DiGeorge syndrome
- CTAFS, conotruncal anomaly-face syndrome
- TOF, tetralogy of Fallot
Heart defects are among the most common congenital anomalies, occurring in approximately 1% of newborn populations.1 Conotruncal heart defects (CTHD), which account for 50-60% of all congenital heart malformations, are known to have a strong genetic component. They occur either as an isolated malformation or in association with extracardiac anomalies. In particular, CTHD constitute a cardinal component of branchial arch syndromes, such as DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly-face syndrome (CTAFS). The wide phenotypic spectrum includes cardiac defects, abnormal facies, thymic hypoplasia or aplasia, cleft palate, and hypoparathyroidism.2, 3 The presence of a characteristic 3 Mb microdeletion on chromosome 22q11 in 70-90% of these patients indicates a common genetic aetiology.4, 5 Haploinsufficiency for the TbxI transcription factor in the critical region appears to be responsible for the aortic arch defects …