Association of Gene Polymorphisms With Neonatal Anomalies and Tumor Risks in CHD Patients
Book chapter > Chapter Other Book · 2025
Authors: Duygu Döndü AYGÜNEŞ JAFARI
The Multifactorial Etiology of Congenital Heart Disease, Chapter Other Book, International, 2025, pp 27-68, ,
DOI: 10.4018/979-8-3373-3735-7.ch002
Summary
Gene polymorphisms involved in cardiac development are increasingly recognized as key contributors to congenital heart disease (CHD), often co-occurring with neonatal anomalies and malignancy risk. Disruptions in developmental pathways such as RAS/MAPK, Notch, and Wnt not only affect cardiac morphogenesis but also exert pleiotropic effects across multiple organ systems. Syndromic CHDs, including Noonan, Alagille, and 22q11.2 deletion syndromes, demonstrate well-established links between specific genetic variants, structural anomalies, and elevated cancer susceptibility. Non-syndromic CHD genes, such as NKX2-5, GATA4, and TBX20, typically lead to isolated cardiac defects, though emerging evidence suggests subtle associations with oncogenic processes. Polygenic risk, copy number variations, and gene–environment interactions further complicate the genetic landscape. Understanding these interrelated mechanisms supports the integration of genomic data into early diagnosis, clinical management, and personalized surveillance strategies for both cardiac and oncologic outcomes.