Etiological Factors and Parental Coping in Congenital Heart Malformations

Ș. Moisa, L. Butnariu, C. Rîpă, R. Cobzaru, Laura Trandafir
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Abstract

The etiology of congenital heart malformations is still insufficiently known. Many genetic mutations exert their action through various mechanisms on neural crest signaling, acting on neural cell migration and altering bulboconal region formation or resorbtion. Some studies evaluate the role of punctual or noncoding mutations, while others highlight the teratogen effect of retinoic acid or ethanol, or discuss the role of maternal diabetes or pregnancy rubella. The etiology of congenital heart malformations is complex and multifactorial and requires further studies. The impact on the family of a child with a congenital heart malformation is significant and various coping mechanisms are employed by parents to address the issue.
先天性心脏畸形的病因和父母的应对措施
先天性心脏畸形的病因尚不十分清楚。许多基因突变通过各种机制对神经嵴信号转导、神经细胞迁移、球冠区形成或吸收产生作用。一些研究评估了点状突变或非编码突变的作用,另一些研究则强调了维甲酸或乙醇的致畸作用,或讨论了母体糖尿病或妊娠风疹的作用。先天性心脏畸形的病因复杂且多因素,需要进一步研究。先天性心脏畸形患儿对家庭的影响是巨大的,家长会采用各种应对机制来解决这一问题。
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