Persistent truncus arteriosus causes
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Causes
Most of the time, this defect occurs spontaneously. Genetic disorders, and teratogens (viruses, metabolic imbalance, and industrial or pharmacological agents) have been associated as possible causes. Up to 50% (varies in studies) of cases are associated with chromosome 22q11 deletions. The neural crest, specifically a population known as the cardiac neural crest, directly contributes to the aorticopulmonary septum.[1] [2]
Microablation of the cardiac neural crest in developing chick embryos and genetic anomalies affecting this population of cells in rodents results in persistent truncus arteriosus.[3] [4] [5]
Numerous perturbations affecting the cardiac neural crest have been associated with persistent truncus arteriosus, some of which include growth factors (fibroblast growth factor 8 and bone morphogenetic protein), transcription factors (T-box, Pax, Nkx2-5, GATA-6, and Forkhead), and gap junction proteins (Connexin). The cardiac neural crest also contributes the smooth muscle of the great arteries.
References
- ↑ Kirby ML, Gale TF, and Stewart DE. (1983). "Neural crest cells contribute to normal aorticopulmonary septation". Science. 220 (4061): 1059–61. PMID 6844926.
- ↑ Jiang X, Rowitch DH, Soriano P, McMahon AP, Sucov HM.. (2000). "Fate of the mammalian cardiac neural crest...journal = Development". 127 (8): 1607–16. PMID 10725237.
- ↑ Hutson MR, Kirby ML.. (2003). "Neural crest and cardiovascular development: a 20-year perspective". Birth Defects Res C Embryo Today. 69 (1): 2–13. PMID 12768653.
- ↑ Waller BR 3rd, McQuinn T, Phelps AL, Markwald RR, Lo CW, Thompson RP, Wessels A. (2000). "Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest". Anat. Rec. 260 (3): 279–93. PMID 11066038.
- ↑ Franz T. (1989). "Persistent truncus arteriosus in the Splotch mutant mouse". Anat. Embryol. (Berlin). 180 (5): 457–64. PMID 2619088.