Kuehl Karen S, Loffredo Christopher A
Cardiology, Children's National Medical Center, Washington, DC 20010, USA.
Expert Rev Cardiovasc Ther. 2005 Nov;3(6):1125-30. doi: 10.1586/14779072.3.6.1125.
Congenital cardiovascular malformations are the most common form of birth defect recorded. Specific malformations of the outflow portions of the heart are termed conotruncal malformations and arise from the septation of the common conotruncus of the heart. There are multiple lines of evidence that point towards genetic-environmental interactions in the genesis of conotruncal congenital cardiovascular malformations. In particular, environmental exposures that involve vitamin A, retinol, folic acid or retinol receptors are identified as cardiac teratogens. Other environmental agents for which there is evidence of cardiac teratogenicity for outflow tract malformations include nitrofen, ambient air pollution, chlorinated hydrocarbons and pesticides. Genetic polymorphisms of xenobiotic metabolism are clearly differentiating in the effect of potential teratogens. Work in this field is at a new cusp, with the ability to measure xenobiotic exposure, document xenobiotic metabolizing genetic polymorphisms and integrate these data into models of cardiac teratogenesis.
先天性心血管畸形是有记录的最常见的出生缺陷形式。心脏流出部分的特定畸形被称为圆锥动脉干畸形，起源于心脏共同圆锥动脉干的分隔。有多项证据表明，圆锥动脉干先天性心血管畸形的发生存在基因-环境相互作用。特别是，涉及维生素A、视黄醇、叶酸或视黄醇受体的环境暴露被确定为心脏致畸剂。有证据表明对流出道畸形具有心脏致畸性的其他环境因素包括硝呋烯腙、环境空气污染、氯代烃和杀虫剂。外源性物质代谢的基因多态性在潜在致畸剂的作用方面有明显差异。该领域的研究正处于一个新的关键节点，具备测量外源性物质暴露、记录外源性物质代谢基因多态性并将这些数据整合到心脏致畸模型中的能力。
