Hypoplastic right heart syndrome is a congenital heart defect in which the right atrium and right ventricle are underdeveloped. This defect causes inadequate ...HypoplasticrightheartsyndromeFromWikipedia,thefreeencyclopediaJumptonavigationJumptosearchCongenitalheartdiseasecharacterizedbyunderdevelopmentofthestructuresontherightsideoftheheartcommonlyassociatedwithatrialseptaldefectMedicalconditionHypoplasticrightheartsyndromeSpecialtyCardiologyHypoplasticrightheartsyndromeisacongenitalheartdefectinwhichtherightatriumandrightventricleareunderdeveloped.Thisdefectcausesinadequatebloodflowtothelungsandthus,ablueorcyanoticinfant.[1]Contents1Symptoms2Causes3Pathogenesis3.1Anatomy4Diagnosis5Treatment5.1Follow-upcare6Prevalence7References8ExternallinksSymptoms[edit]Commonsymptomsincludeagrayish-blue(cyanosis)colorationtotheskin,lips,fingernailsandotherpartsofthebody.[2]Otherpronouncedsymptomscanberapid/difficultybreathing,poorfeeding,coldhandsorfeet,orbeinginactiveanddrowsy."Inababywithhypoplasticleftheartsyndrome,ifthenaturalconnectionsbetweentheheart'sleftandrightsides(foramenovalandductusarteriosus)areallowedtoclose,heorshemaygointoshock."Signsofshockcanincludecoolorclammyskin,aweakorrapidpulse,anddilatedpupils.[3]Causes[edit]TheNotch-signalingpathwayisinvolvedinmultipleprocessesduringheartdevelopment,alongwithWntsignaling.Cardiomyocytedifferentiation,patterningofthedifferentcardiacregions,valvedevelopment,ventriculartrabeculation,andoutflowtractdevelopmenthaveallbeenshowntodependontheactivityofspecificNotch-signalingelements.TheimportanceofNotchsignalinginhumandiseaseisevidentfromthediscoverythatmanymutationsincomponentsofthispathwayareinheritedinseveralgeneticandacquireddisorders,thoughonecannotacquirehypoplasticrightheartsyndrome.Someofthemutationsarethoughttobeonchromosome2.Otherdeletionsarethoughttobechromosomalarms9q34and20p12,whichcontainNOTCH1andJAG1anddeletionofbandq22orq24.WntsignalingalsoplaysarolealongwithNotch1,2andJAGintheformationofcardiactissuesandheartdev