Abstract：
Partial anomalous pulmonary venous connections (PAVC) have been found after abnormal gene expressions involving several syndromes. Total anomalous pulmonary venous connection (TAPVC) is found in conjunction with heterotaxia syndrome as well as several other syndromes. It has been reported with an autosomal dominance with variable expression and incomplete penetrance. The occurrence is also related to environmental factors which may superimpose on a familial susceptibility for TAPVC. Many pathways are involved in the normal development of the pulmonary venous connections and as a consequence disturbance of many genetic and epigenetic pathways lead to partial or total pulmonary venous misconnections. In this chapter, an overview of current knowledge regarding human genetics of anomalous venous connections is provided.
摘要：
在涉及多种综合征的异常基因表达后，发现了部分异常肺静脉连接（PAVC）。发现完全异常肺静脉连接（TAPVC）与异位症综合征以及其他几种综合征有关。据报道，常染色体显性具有可变的表达和不完全的外显率。这种情况还与环境因素有关，这些环境因素可能会叠加在TAPVC的家族易感性上。肺静脉连接的正常发育涉及许多途径，因此许多遗传和表观遗传途径的干扰导致部分或全部肺静脉连接错误。在这一章中,提供了有关静脉连接异常的人类遗传学的现有知识的概述。
