整合的人类遗传学和分子/发育生物学研究表明，动脉干与22q11.2缺失综合征高度相关。其他先天性畸形综合征和编码TBX的基因变异，GATA,和NKX转录因子和一些信号蛋白也被报道为其病因。
Integrated human genetics and molecular/developmental biology studies have revealed that truncus arteriosus is highly associated with 22q11.2 deletion syndrome. Other congenital malformation syndromes and variants in genes encoding TBX, GATA, and NKX transcription factors and some signaling proteins have also been reported as its etiology.
