法洛四联症:现代资料。文献综述

I. Sagatov, A. V. Sapunov
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摘要

法洛四联症是一种先天性心脏病,包括室间隔缺损(VSD)、右心室流出道梗阻、主动脉根右移和右心室肥厚。每1万名活产婴儿中就有3人患有先天性心脏病,占所有先天性心脏缺陷的7-10%。tvef的病因是多因素的,可能包括未经治疗的产妇糖尿病、苯丙酮尿和维甲酸摄入。相关的染色体异常包括21、18和13三体,但最近的研究表明与22号染色体微缺失的相关性更高。家族遗传风险为3%。本文介绍了有关ToF的科学出版物的结果。特别是,现代和局部问题的遗传易感性,形态学,诊断,手术治疗的适应症,包括根治性和分期,被认为。
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TETRALOGY OF FALLOT: MODERN DATA. REVIEW OF LITERATURE
Tetralogy of Fallot (TоF) is a congenital heart disease that includes ventricular septal defect (VSD), right ventricular outflow tract obstruction, aortic root dextraposition, and right ventricular hypertrophy. TоF occurs in 3 out of 10,000 live births and accounts for 7–10% of all congenital heart defects. The etiology of TоF is multifactorial and may include untreated maternal diabetes, phenylketonuria, and retinoic acid intake. Associated chromosomal abnormalities include trisomies 21, 18, and 13, but recent studies indicate a much higher association with microdeletion of chromosome 22. The familial risk of TоF is 3%. The article presents the results of scientific publications about ToF. In particular, modern and topical issues of genetic predisposition, morphology, diagnosis, indications for surgical treatment, including radical and staged, are considered.
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