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1、CongenitalHeartDiseasesSpecialPathologyCongenitalheartdiseasesabnormalitiesoftheheartorgreatvesselsthatarepresentatbirthfaultyembryogenesisduringgestationalweeks3through8majorcardiovascularstructuresdevelop.Congenitalmalformationsoftheheartencompassabroadspectrumofdefects,severeanomaliesthatc
2、ausedeathintheperinatalperiod,mildlesionsthatproduceonlyminimalsymptoms,eveninadultlife.Generallyacceptedincidenceisapproximately1%oflivebirthshigherinprematureinfantsandinstillborns.Mostcommontypeofheartdiseaseamongchildren.PatientssurvivingwithcongenitalheartdiseaseisincreasingrapidlyBecaus
3、eofclinicaladvancesby2020therewillbeanestimated750,000adultswithcongenitalheartdisease.SurgerycancorrectthehemodynamicabnormalitiesrepairedheartmaystillnotbecompletelynormalAlthoughadaptiveinitially,suchchangescanelicitlate-onsetarrhythmias,ischemia,ormyocardialdysfunction,sometimesmanyyearsa
4、ftersurgeryMyocardialhypertrophyandacardiacremodelingbroughtaboutbythecongenitaldefectmaybeirreversible.Generalconceptsregardingtheetiologyofcongenitalmalformationsunknowninalmost90%ofcases.Environmentalfactors,congenitalrubellainfection,arecausalinmanyinstances.Geneticfactorsarealsoclearlyin
5、volved,asevidencedbyfamilialformsofcongenitalheartdiseasewell-definedassociationswithcertainchromosomalabnormalities(e.g.,trisomies13,15,18,and21andTurnersyndrome).Cardiacmorphogenesisinvolvesmultiplegenestightlyregulatedtoensureaneffectiveembryoniccirculation.Keystepsinvolvespecifyingcardiac
6、cellfate,morphogenesisandloopingofthehearttube,segmentationandgrowthofthecardiacchambers,cardiacvalveformation,andconnectionofthegreatvesselstotheheart.Themolecularpathwayscontrollingsuchcardiacdevelopmentprovideafoundationforunderstandingthebasisofsomecongenitalheartdefects.Severalcongenital
7、heartdiseasesareassociatedwithmutationsintranscriptionfactors.MutationsoftheTBX5transcriptionfactorcausetheatrialandventricularseptaldefectsseeninHolt-Oramsyndrome.MutationsinthetranscriptionfactorNKX2.5areassociatedwithisolatedatrialseptalde
