先天性心脏病的分子生物学研究

Molecular Biology Studies on Congenital Heart Disease

先天性心脏病的分子生物学研究谢进生（北京心肺血管疾病研究所－安贞医院心外科北京１０００２９）ＡｂｓｔｒａｃｔＦｏｒａｌｏｎｇｔｉｍｅ，ｉｔｈａｄｂｅｎｖｉｅｗｅｄｔｈａｔｍｏｓｔｃｏｎｇｅｎｉｔａｌｈｅａｒｔｄｉｓｅａｓｅｓ（ＣＨＤ）ａｒｅｃａｕｓｅ...

For a long time,it had been viewed that most congenital heart diseases(CHD)are caused by multifactorial and/or environmental factors,which limited the generation of testable hypothesis on single gene.This review focuses on the vast recent advances toward a molecular understanding of congenital heart diseases and on the known single gene defects responsible for these diseases.Many congenital cardiovascular diseases are heritable,have clinical manifestations in adult ages,are frequent in occurrence,and can have significant social and economical impact.Specific gene defects have been identified for hypertrophic and dilated cardiomyopathies,mitochondrial cardiomyopathies,long QT syndrome,familial heart block,arrythmogenic right ventricular dysplasia,Marfan syndrome,Williams syndrome,familial supravavular aortic stenosis,hereditary hemorrhagic telangiectasia,CATCH22 syndrome and artioventicular canal,and so on.Limited phenotypic response of the developing heart accounts for similar cardiovascular defects from differing gene defects.Although environmental factors affect expression of many of these genes,it is clear that human CHD is frequently due to singlegenedefect.The revolution in molecular genetic has clearly hit human cardiovascular development.It is time for clinicians,including cardiologists and cardiovascular surgeons,to interact with geneticists and basic scientists in understanding the genetic basis of CHD and other cardiovascular disease,their diagnoses and their therapies.