Etiological Factors and Parental Coping in Congenital Heart Malformations

Stefana MOISA, Lacramioara BUTNARIU, Carmen Valerica RIPA, Roxana Gabriela COBZARU, Laura TRANDAFIR

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.


Keywords


congenital heart malformation, mutation, genetic abnormality, coping

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