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Updated: Jun 23, 2025

Left Atrial Stenosis Induced Pulmonary Venous Arterialization and Group 2 Pulmonary Hypertension in Rat
Published on: November 18, 2018
Total Anomalous Pulmonary Venous Connections, Human Genetics
R E Poelmann1, M R M Jongbloed2,3, M C DeRuiter4
1Institute of Biology Leiden, Leiden University, Leiden, The Netherlands.
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.
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