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transposition of the great vessels
Epidemiology:
- 5-7% of all congenital heart disease [2]
Pathology:
- trunco-conal septum descends straight down instead of spiraling resulting in the aorta originating from the right ventricle & the pulmonary artery from the left
- sometimes associated with defect in interventricular septum, usually combined with patent ductus arteriosus
Genetics:
- defects in THRAP2 are associated with transposition of the great arteries - dextro-looped translocation t(12;17)(q24.1;q21) identified in one patient
- associated with defects in CFC1 gene
- associated with defects in GDF1 gene
Clinical manifestations:
- full-term, normal size for gestational age [3]
- cyanosis, tachypnea, hypoxia [3]
- generally no murmur [3]
Laboratory:
- pulse oximetry: low SaO2 [3]
Complications:
- infants at risk of death if patent ductus arteriosus closes prior to corrective cardiac surgery
Interactions
disease interactions
General
congenital heart disease; congenital cyanotic heart disease
Database Correlations
OMIM correlations
References
- Langman, Medical Embryology, Williams & Wilkins 1975
- OMIM :accession 608771 608808
- NEJM Knowledge+ Question of the Week. April 10, 2018
https://knowledgeplus.nejm.org/question-of-week/4843
- Warnes CA
Transposition of the great arteries.
Circulation. 2006 Dec 12;114(24):2699-709.
PMID: 17159076 Free full text