Marfan syndrome - Symptoms and causes - Mayo Clinic

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other ... COVID-19:Advice,updatesandvaccineoptions Weareopenforsafein-personcare. Learnmore: MayoClinicfactsaboutcoronavirusdisease2019(COVID-19) OurCOVID-19patientandvisitorguidelines,plustrustedhealthinformation Lateston COVID-19vaccination bysite: Arizonapatientvaccinationupdates Arizona, Floridapatientvaccinationupdates Florida, Rochesterpatientvaccinationupdates Rochesterand MayoClinicHealthSystempatientvaccinationupdates MCHS Skiptositenavigation SkiptoContent ThiscontentdoesnothaveanEnglishversion.ThiscontentdoesnothaveanArabicversion. SectionsforMarfansyndromeSymptoms&causesDiagnosis&treatmentDoctors&departmentsCareatMayoClinic Print OverviewMarfansyndromeisaninheriteddisorderthataffectsconnectivetissue—thefibersthatsupportandanchoryourorgansandotherstructuresinyourbody.Marfansyndromemostcommonlyaffectstheheart,eyes,bloodvesselsandskeleton. PeoplewithMarfansyndromeareusuallytallandthinwithunusuallylongarms,legs,fingersandtoes.ThedamagecausedbyMarfansyndromecanbemildorsevere.Ifyouraorta—thelargebloodvesselthatcarriesbloodfromyourhearttotherestofyourbody—isaffected,theconditioncanbecomelife-threatening. Treatmentusuallyincludesmedicationstokeepyourbloodpressurelowtoreducethestrainonyouraorta.Regularmonitoringtocheckfordamageprogressionisvital.ManypeoplewithMarfansyndromeeventuallyrequirepreventivesurgerytorepairtheaorta.Products&ServicesBook:MayoClinicFamilyHealthBook,5thEditionMayoClinicSportsMedicineNewsletter:MayoClinicHealthLetter—DigitalEditionShowmoreproductsfromMayoClinic Symptoms FingerlengthinMarfansyndrome Openpop-updialogbox Close FingerlengthinMarfansyndrome FingerlengthinMarfansyndrome PeoplewhohaveMarfansyndrometypicallyhaveespeciallylongfingers.It'scommonfortheirthumbstoextendfarbeyondtheedgeoftheirhandswhentheymakeafist. LongerarmsinMarfansyndrome Openpop-updialogbox Close LongerarmsinMarfansyndrome LongerarmsinMarfansyndrome Marfansyndromeisageneticdisorderthatcausespeopletohaveunusuallylongarms,legsandfingers.Yourdoctormaywanttomeasureyourarmspanifheorshethinksyoumighthavethedisorder. ThesignsandsymptomsofMarfansyndromecanvarygreatly,evenamongmembersofthesamefamily,becausethedisordercanaffectsomanydifferentareasofthebody.Somepeopleexperienceonlymildeffects,butothersdeveloplife-threateningcomplications. Marfansyndromefeaturesmayinclude: Tallandslenderbuild Disproportionatelylongarms,legsandfingers Abreastbonethatprotrudesoutwardordipsinward Ahigh,archedpalateandcrowdedteeth Heartmurmurs Extremenearsightedness Anabnormallycurvedspine Flatfeet WhentoseeadoctorIfyouthinkthatyouoryourchildmayhaveMarfansyndrome,talktoyourdoctororpediatrician.Ifyourdoctorsuspectsaproblem,you'lllikelybereferredtoaspecialistforfurtherevaluation. RequestanAppointmentatMayoClinic CausesMarfansyndromeiscausedbyadefectinthegenethatenablesyourbodytoproduceaproteinthathelpsgiveconnectivetissueitselasticityandstrength. MostpeoplewithMarfansyndromeinherittheabnormalgenefromaparentwhohasthedisorder.Eachchildofanaffectedparenthasa50-50chanceofinheritingthedefectivegene.Inabout25%ofthepeoplewhohaveMarfansyndrome,theabnormalgenecomesfromneitherparent.Inthesecases,anewmutationdevelopsspontaneously. RiskfactorsMarfansyndromeaffectsmenandwomenequallyandoccursamongallracesandethnicgroups.Becauseit'sageneticcondition,thegreatestriskfactorforMarfansyndromeishavingaparentwiththedisorder. Complications Aneurysmataorticroot Openpop-updialogbox Close Aneurysmataorticroot Aneurysmataorticroot Thepressureofbloodleavingyourheartcancausethewallofyouraortatobulgeout,likeaweakspotinatire.InpeoplewhohaveMarfansyndrome,thisismostlikelytohappenattheaorticroot—wherethearteryleavesyourheart. Aorticaneurysmandaorticdissection Openpop-updialogbox Close Aorticaneurysmandaorticdissection Aorticaneurysmandaorticdissection Anaorticaneurysmoccurswhenaweakspotinthewallofyouraortabeginstobulge(left).Thiscanoccuranywhereinyouraorta.Havingananeurysmincreasestheriskofanaorticdissection—atearintheliningoftheaorta,shownintheimageontheright. Lensdislocation Openpop-updialogbox Close Lensdislocation Lensdislocation SomepeoplewhohaveMarfansyndromemayexperiencethedislocationofthelensintheireye. Retinaldetachment Openpop-updialogbox Close Retinaldetachment Retinaldetachment Retinaldetachmentdescribesanemergencysituationinwhichacriticallayeroftissue(theretina)atthebackoftheeyepullsawayfromthelayerofbloodvesselsthatprovidesitwithoxygenandnutrients.Retinaldetachmentisoftenaccompaniedbyflashesandfloatersinyourvision. Scoliosis Openpop-updialogbox Close Scoliosis Scoliosis Viewedfromtheside,thenormalspinetakestheformofanelongatedS,theupperbackbowingoutwardandthelowerbackcurvingslightlyinward.Viewedfrombehindthough,thespineshouldappearasastraightlinefromthebaseofthenecktothetailbone.Scoliosisisasidewayscurvatureofthespine. Chestabnormalities Openpop-updialogbox Close Chestabnormalities Chestabnormalities Marfansyndromecaninterferewiththenormaldevelopmentoftheribs,whichcancausethebreastbonetoeitherprotrudeorappearsunkenintothechest. BecauseMarfansyndromecanaffectalmostanypartofyourbody,itmaycauseawidevarietyofcomplications. CardiovascularcomplicationsThemostdangerouscomplicationsofMarfansyndromeinvolvetheheartandbloodvessels.Faultyconnectivetissuecanweakentheaorta—thelargearterythatarisesfromtheheartandsuppliesbloodtothebody. Aorticaneurysm.Thepressureofbloodleavingyourheartcancausethewallofyouraortatobulgeout,likeaweakspotinatire.InpeoplewhohaveMarfansyndrome,thisismostlikelytohappenattheaorticroot—wherethearteryleavesyourheart. Aorticdissection.Thewalloftheaortaismadeupoflayers.Dissectionoccurswhenasmalltearintheinnermostlayeroftheaorta'swallallowsbloodtosqueezebetweentheinnerandouterlayersofthewall.Thiscancauseseverepaininthechestorback.Anaorticdissectionweakensthevessel'sstructureandcanresultinarupture,whichmaybefatal. Valvemalformations.PeoplewhohaveMarfansyndromecanhaveweaktissueintheirheartvalves.Thiscanproducestretchingofthevalvetissueandabnormalvalvefunction.Whenheartvalvesdon'tworkproperly,yourheartoftenhastoworkhardertocompensate.Thiscaneventuallyleadtoheartfailure. EyecomplicationsEyecomplicationsmayinclude: Lensdislocation.Thefocusinglenswithinyoureyecanmoveoutofplaceifitssupportingstructuresweaken.Themedicaltermforthisproblemisectopialentis,anditoccursinmorethanhalfthepeoplewhohaveMarfansyndrome. Retinalproblems.Marfansyndromealsoincreasestheriskofadetachmentortearintheretina,thelight-sensitivetissuethatlinesthebackwallofyoureye. Early-onsetglaucomaorcataracts.PeoplewhohaveMarfansyndrometendtodeveloptheseeyeproblemsatayoungerage.Glaucomacausesthepressurewithintheeyetoincrease,whichcandamagetheopticnerve.Cataractsarecloudyareasintheeye'snormallyclearlens. SkeletalcomplicationsMarfansyndromeincreasestheriskofabnormalcurvesinthespine,suchasscoliosis.Itcanalsointerferewiththenormaldevelopmentoftheribs,whichcancausethebreastbonetoeitherprotrudeorappearsunkenintothechest.FootpainandlowbackpainarecommonwithMarfansyndrome. ComplicationsofpregnancyMarfansyndromecanweakenthewallsoftheaorta,themainarterythatleavestheheart.Duringpregnancy,theheartpumpsmorebloodthanusual.Thiscanputextrastressontheaorta,whichincreasestheriskofadeadlydissectionorrupture. ByMayoClinicStaff MarfansyndromecareatMayoClinic RequestanAppointmentatMayoClinic Diagnosis&treatment May19,2021 Print Shareon:FacebookTwitter Showreferences Marfansyndrome:In-depth.NationalInstituteofArthritisandMusculoskeletalandSkinDiseases.https://www.niams.nih.gov/health-topics/marfan-syndrome/advanced.AccessedJan.28,2021. FerriFF.Marfansyndrome.In:Ferri'sClinicalAdvisor2021.Elsevier;2021.https://www.clinicalkey.com.AccessedJan.28,2021. KliegmanRM,etal.Marfansyndrome.In:NelsonTextbookofPediatrics.21sted.Elsevier;2020.https://www.clinicalkey.com.AccessedJan.28,2021. WrightMJ,etal.Genetics,clinicalfeaturesanddiagnosisofMarfansyndromeandrelateddisorders.https://www.uptodate.com/contents/search.AccessedJan.28,2021. WrightMJ,etal.ManagementofMarfansyndromeandrelateddisorders.https://www.uptodate.com/contents/search.AccessedJan.28,2021. AskMayoExpert.Marfansyndrome.MayoClinic;2020. YourteenandMarfanorarelateddisorder.TheMarfanFoundation.https://www.marfan.org/event/parent-toolkit/your-teen-marfan-related-disorder.AccessedFeb.3,2021. Yourchild'sschool.TheMarfanFoundation.https://www.marfan.org/event/parent-toolkit/your-childs-school.AccessedFeb.3,2021. OfficeofPatientEducation.Marfansyndrome.MayoClinic;2018. BowenJ(expertopinion).MayoClinic.March2,2021. MorrowESJr.AllscriptsEPSi.MayoClinic.Feb.16,2021. Related Aneurysmataorticroot Aorticaneurysmandaorticdissection Ascendingaorticrootaneurysmprocedure Chestabnormalities FingerlengthinMarfansyndrome Lensdislocation LongerarmsinMarfansyndrome Marfansyndrome:Theimportanceofdiagnosisandtreatment Showmorerelatedcontent AssociatedProcedures Aorticrootsurgery Cataractsurgery CTscan Echocardiogram Genetictesting MRI Showmoreassociatedprocedures Products&Services Book:MayoClinicFamilyHealthBook,5thEdition MayoClinicSportsMedicine Newsletter:MayoClinicHealthLetter—DigitalEdition ShowmoreproductsandservicesfromMayoClinic MayoClinicinRochester,Minn.,hasbeenrecognizedasoneofthetopCardiology&HeartSurgeryhospitalsinthenationfor2021-2022byU.S.News&WorldReport. Learnmoreaboutthistophonor MarfansyndromeSymptoms&causesDiagnosis&treatmentDoctors&departmentsCareatMayoClinic Advertisement MayoClinicdoesnotendorsecompaniesorproducts.Advertisingrevenuesupportsournot-for-profitmission. 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