法洛四联症病因及发病机制研究进展

Etiology and pathogenesis of tetralogy of Fallot

法洛四联症发病受遗传因素和环境因素的双重影响。遗传因素包括单基因或多基因突变、以基因甲基化为主的表观遗传修饰、染色体数目和结构异常等;环境因素包括孕期母体接触的射线、声波等物理因素,药物为主的化学因素,病毒或细菌感染等生物因素,焦虑等社会心理因素。以上多种因素同时影响法洛四联症的发生、发展,但其具体机制尚不完全明确。本文就法洛四联症病因及发病机制的研究进展作一综述。

The pathogenesis of tetralogy of Fallot is affected by both genetic and environmental factors.The genetic factors include single or multiple gene mutations,epigenetic modifications mainly about gene methylation,and chromosome number and structure abnormalities.The environmental factors are mainly explained by the physical factors such as radiation and sound waves exposure during pregnancy,the chemical factors such as drugs,the biological factors such as viral or bacterial infection,and the psychosocial factors such as anxiety.Most of the above factors affect the occurrence and development of tetralogy of Fallot at the same time,but the mechanisms are not incompletely defined.This paper reviews the research progress of the etiology and pathogenesis of tetralogy of Fallot.