Disease relevance of Truncus Arteriosus, Persistent

• In two other families, the ENU-induced mutation was identified--Sema3CL605P was associated with persistent truncus arteriosus with interrupted aortic arch, and the Gja1W45X connexin43 mutation caused conotruncal malformation and coronary aneurysms [1].

High impact information on Truncus Arteriosus, Persistent

• Here, we show that conditional inactivation of GATA-6 in VSMCs results in perinatal mortality from a spectrum of cardiovascular defects, including interrupted aortic arch and persistent truncus arteriosus [2].
• However, day 11 hearts with persistent truncus arteriosus showed a twofold reduction in the peak magnitude of ICa.L at a test potential of + 10 mV without a concomitant reduction in the number of L channels detected by 1,4-dihydropyridine antagonist [(+)[3H]PN200-110] and agonist (Bay K 8644) receptor binding [3].
• Mutation of Pax3, as occurs in the splotch (Sp2H) mouse, results in development of conotruncal heart defects including persistent truncus arteriosus [4].
• We found that the majority of Foxc2/ETA double-mutant embryos died around 11.5 dpc and that all surviving mice had persistent truncus arteriosus [5].
• The neural crest provides both neural (sympathetic and parasympathetic) and ectomesenchymal components to the heart, and selective removal of various areas results in embryos with sympathetically aneural hearts, or persistent truncus arteriosus with or without parasympathetic denervation [6].

Chemical compound and disease context of Truncus Arteriosus, Persistent

• Pathogenesis of persistent truncus arteriosus induced by nimustine hydrochloride in chick embryos [7].
• Particularly, administration of bis-diamine to chick embryos at stage 13 resulted in a high incidence of persistent truncus arteriosus (64.3%) [8].

Analytical, diagnostic and therapeutic context of Truncus Arteriosus, Persistent

• The Splotch mutant mouse is proposed to be an animal model for persistent truncus arteriosus [9].

References