Persistent truncus arteriosus causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Associate Editor-in-Chief: Keri Shafer, M.D. [2]

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

  1. Kirby ML, Gale TF, and Stewart DE. (1983). "Neural crest cells contribute to normal aorticopulmonary septation". Science. 220 (4061): 1059–61. PMID 6844926.
  2. 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.
  3. 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.
  4. 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.
  5. Franz T. (1989). "Persistent truncus arteriosus in the Splotch mutant mouse". Anat. Embryol. (Berlin). 180 (5): 457–64. PMID 2619088.

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