Conotruncal cardiac anomalies
Citation, DOI & article data
Conotruncal heart defects are a group of congenital cardiovascular anomalies involving the outflow tracts and great vessels. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero.
They may account for up to a fifth of all congenital cardiac anomalies diagnosed prenatally 2.
- 22q deletion syndrome: conotruncal anomalies are a frequent component of this syndrome
- maternal diabetes
Due to parallel fetal circulation, these are well tolerated in utero. Affected individuals present with acute hypoxia within the first few days following delivery. In the present day and age, most are detected on in utero ultrasound.
They are usually defined as malformations of the cardiac outflow tracts and presumably result from either a disturbance of the outflow tract of the embryonic heart, or impaired development of the branchial arch and arteries, or both.
This class of defects includes:
- 1. Long J, Ramadhani T, Mitchell LE. Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999-2004. Birth Defects Res. Part A Clin. Mol. Teratol. 2010;88 (11): 971-9. doi:10.1002/bdra.20724 - Pubmed citation
- 2. Espinoza J, Romero R, Kusanovic JP et-al. The role of the sagittal view of the ductal arch in identification of fetuses with conotruncal anomalies using 4-dimensional ultrasonography. J Ultrasound Med. 2007;26 (9): 1181-8. J Ultrasound Med (full text) - Free text at pubmed - Pubmed citation