transposition of the great vessels
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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
More general terms
References
- ↑ Langman, Medical Embryology, Williams & Wilkins 1975
- ↑ 2.0 2.1 OMIM https://mirror.omim.org/entry/608771 608808
- ↑ 3.0 3.1 3.2 3.3 3.4 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: https://www.ncbi.nlm.nih.gov/pubmed/17159076 Free full text