conotruncal cardiac anomalies
Conotruncal heart defects are a group of congenital cardiovascular anomalies. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero.
Epidemiology
They may account for up to a fifth of all congenital cardiac anomalies diagnosed prenatally .
Clinical presentation
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.
Pathology
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:
- truncus arteriosus
- tetralogy of Fallot
- interrupted aortic arch
- double outlet right (or left) ventricle
- transposition of the great arteries
- aortopulmonary septal defect
Associations
- 22q deletion syndrome: conotruncal anomalies are a frequent component of this syndrome
- maternal diabetes
Siehe auch:
- Herzfehler
- Fallot'sche Tetralogie
- double outlet right ventricle (DORV)
- Mikrodeletionsyndrom 22q11
- Truncus arteriosus communis
- transposition of the arteries
- Atresie der Aorta