REVISTA
BRASILEIRA
DE
ANESTESIOLOGIA
PublicaçãoOficialdaSociedadeBrasileiradeAnestesiologia www.sba.com.brREVIEW
ARTICLE
Marfan
Syndrome:
new
diagnostic
criteria,
same
anesthesia
care?
Case
report
and
review
Maria
Rita
Araújo
∗,
Céline
Marques,
Sara
Freitas,
Rita
Santa-Bárbara,
Joana
Alves,
Célia
Xavier
AnesthesiologyDepartment,HospitalSantaMaria,Lisbon,Portugal
Received16August2014;accepted8September2014 Availableonline27November2014
KEYWORDS
MarfanSyndrome; Generalanesthesia; Perioperativecare
Abstract
Background: Marfan’sSyndrome(MFS)isadisorderofconnectivetissue,mainlyinvolvingthe
cardiovascular,musculoskeletal,andocular systems.The mostsevereproblemsinclude aor-tic rootdilatation and dissection. Anesthetic managementis vital for the improvementon perioperativemorbidity.
Casereport: 61-year-oldmalewithMFS,presentingmainlywithpectuscarinatum,scoliosis,
ectopialens,previousspontaneouspneumothoraxandaortalaneurysmanddissectionsubmitted tothoracoabdominalaorticprosthesisplacement.Underwentroutine laparoscopic cholecys-tectomyduetolithiasis.Importantfindingsonpreoperativeexaminationwerethoracolumbar kyphoscoliosis,metallicmurmuroncardiacexam.ChestradiographrevealedCobbangleof70◦.
Echocardiogramshowedevidenceofaorticmechanicalprosthesiswithnodeficits.
Discussion: Preoperativeevaluationshouldfocusoncardiopulmonaryabnormalities.The
anes-thesiologistshouldbe preparedfor apotentiallydifficultintubation. Properpositioningand limbsupportpriortoinductioniscrucialinordertoavoidjointinjuries.Considerantibiotic prophylaxisforsubacutebacterialendocarditis.Thepatientshouldbecarefullypositionedto avoidjointinjuries.Intraoperativelycardiovascularmonitoringismandatory:avoidmaneuvers thatcanleadtotachycardiaorhypertension,controlairwaypressuretopreventpneumothorax andmaintainanadequatevolemiatodecreasechancesofprolapse,especiallyifconsidering laparoscopicsurgery.Nosingleintraoperativeanestheticagentortechniquehasdemonstrated superiority.Adequatepostoperativepainmanagementisvitallyimportanttoavoidthe detri-mentaleffectsofhypertensionandtachycardia.
©2014SociedadeBrasileiradeAnestesiologia.PublishedbyElsevierEditoraLtda.Thisisan openaccessarticleundertheCCBY-NC-NDlicense( http://creativecommons.org/licenses/by-nc-nd/4.0/).
∗Correspondingauthor.
E-mail:m.rita.araujo@gmail.com(M.R.Araújo). http://dx.doi.org/10.1016/j.bjane.2014.09.004
PALAVRAS-CHAVE
SíndromedeMarfan; Anestesiageral; Cuidados pré-operatórios
SíndromedeMarfan:novoscritériosdiagnósticos,mesmaabordagemanestésica?
Relatodecasoerevisão
Resumo
Justificativa: A síndromede Marfan (SMF)é uma doenc¸a do tecidoconjuntivo que envolve
principalmenteossistemas:cardiovascular,músculo-esqueléticoevisual.Osproblemasmais graves incluem dilatac¸ãoda raiz daaorta edissecc¸ão. Omanejoanestésico é vital para a melhoradamorbidadeperioperatória.
Relatodecaso: Homemde61anoscomSMF,apresentando-seprincipalmentecompectus
car-inatum,escoliose,ectopiadalente,pneumotóraxeespontâneoanterioreaneurismadaaorta
edissecc¸ão,submetidoàcolocac¸ãodepróteseaórticatoracoabdominal.Opacientefoi sub-metidoàcolecistectomiavideolaparoscópicaderotinadevidoàlitíase.Osachadosimportantes ao exame pré-operatório foramcifoescoliosetóracolombar emurmúrio metálicoem exame cardíaco.AradiografiadetóraxrevelouângulodeCobbde70◦ eoecocardiogramamostrou
evidênciadeprótesemecânicaaórticasemalterac¸ões.
Discussão: Aavaliac¸ãopré-operatóriadevetercomofocoasanormalidadescardiopulmonares.
Oanestesiologistadeveestarpreparadopara umaintubac¸ãopotencialmente difícil.O posi-cionamentoadequadoeapoioparaomembroantesdainduc¸ãosãofundamentaisparaevitar lesõesnasarticulac¸ões.Profilaxiaantibióticadeveserconsideradaparaendocarditebacteriana subaguda.Opacientedevesercuidadosamenteposicionadoparaevitarlesõesdasarticulac¸ões. Omonitoramentocardiovascularéobrigatórionoperíodointraoperatório:evitarmanobrasque podemlevaràtaquicardiaouhipertensão;controlarapressãodasviasaéreasparaevitar pneu-motóraxemanterumavolemiaadequadaparadiminuiraschancesdeprolapso,especialmente emcasodelaparoscopia.Nenhumagenteanestésicooutécnicademonstrousuperioridadeno períodointraoperatório.Otratamentoadequadodadornopós-operatórioédevitalimportância paraevitarosefeitosdeletériosdahipertensãoetaquicardia.
©2014SociedadeBrasileiradeAnestesiologia.PublicadoporElsevierEditoraLtda.Este ´eum artigo OpenAccess sobumalicenc¸aCCBY-NC-ND( http://creativecommons.org/licenses/by-nc-nd/4.0/).
Introduction
TheMFS (MFS)isanautosomaldominantconditioncaused by a mutation in the FBN1 gene on chromosome 15 that encodes the protein fibrillin. This defect results in a set of expressions of various organs and systems, being mus-culoskeletal,cardiovascularandophthalmicmanifestations themostnotorious.
It has an estimated incidence of 2---3 per 10,000 inhabitants.1
In2010theGhent Nosologywasrevised,andnew diag-nosticcriteriasupersededthepreviousagreementmadein 1996.Thesevennewcriteriacanleadtoadiagnosis,being necessarytofulfilljustoneofthecriteria:2
Intheabsenceofafamilyhistory:
1. AorticrootZ-score≥2+ectopialentis 2. AorticrootZ-score≥2+FBN1mutation
3. AorticrootZ-score≥2+systemicscore>7points 4. EctopialentisANDanFBN1mutationwithknownaortic
pathology
Inthepresenceofafamilyhistory:
1. Ectopialentis 2. Systemicscore≥7 3. AorticrootZ-score≥2
Pointsforsystemicscore:
WristANDthumbsign=3(wristORthumbsign=1) Pectus carinatum deformity=2 (pectus excavatum or chestasymmetry=1)
Hindfootdeformity=2(pesplanus=1) Duralectasia=2
Protrusioacetabuli=2
Reduced upper segment/lower segment ratio AND increasedarm/heightANDnoseverescoliosis=1
Scoliosisorthoracolumbarkyphosis=1 Reducedelbowextension=1
Facialfeatures(3/5)=1(dolichocephaly,enophthalmos, downslantingpalpebral fissures, malar hypoplasia, retrog-nathia)Skinstriae=1
Myopia>3diopters=1 Mitralvalveprolapse=0.25
In1972,thedecreaseinaveragelifeexpectancyinthese patientswasduetothechangesoncardiovascularsystem, aorticaneurysmrupturebeingthemajorcauseofmortality.3
In2010lifeexpectancyforpatientswithMFShasincreased >25%since1972.Reasonstosustainthisdramaticincrease may include benefits arising from cardiovascular surgery, and greater proportion of milder cases due to increased frequency of diagnosis. Medical therapy (including beta blockers)wasalsoassociatedwithan increaseinprobable survival.4
andthoroughpre-anestheticassessment,alongwiththeuse ofthemostappropriateanesthetictechniques.
The 2010revised criteriaclassified 83%of thepatients withamutationinFBN1ashavingMFS,comparedwith89% accordingtotheoldercriteria.5Thereareanumberof
con-ditions of the connective tissue witha similar phenotype thatcanbeconfusedwithMFS,andtherecentlypublished modifications of the diagnostic criteria facilitate the dif-ferentiationof MFSfromthese conditions.6 The focushas
shiftedfromthemusculoskeletalsignstothe cardiovascu-larandocularabnormalities.Thus,thepresenceofadilated aortaplusectopialentisisnowsufficienttogivean unequiv-ocaldiagnosisofMFS.Inthepreviouscriteria,involvement ofathirdsystem orthepatienthavinganaffected family memberwasalsorequiredfordiagnosis.
Case
report
We present a 61-year-old male, 105kg, 195cm, withMFS fulfillingthe followingdiagnosis criteria, according tothe newclassification:
• Absenceoffamilyhistory
• AorticrootZ-score=−1.91(notachievingcriteria)
• Pectuscarinatum
• Scoliosis>20◦
• Walker---Murdoch sign; thumb sign (Fig. 1), planuvalgos foot(Fig.2)
• Characteristicfacialappearance
• Aneurysmofthoracoabdominalaortawithinvolvementof theascending segmentandaorticarch, associatedwith typeBdissectionofdescendingthoracicaorta,involving theascending,descendingandaorticarch.Submittedto supracoronaryreplacementandtotalaorticconduitonan innovativeandhighrisksurgeryonOxfordHeartCenter;7
nowadayspresentswithtypeAaorticdissection (ascend-ingandarch),celiactrunkaneurysm,underimagiological follow-up andectasia of theright primitiveiliac artery withpartiallumenthrombosis
• Lensextractionduetoectopiain1978
• Retinaldetachmentin1993
• Spontaneousrightpneumothoraxin1999
Thismeansthatthispatientdoesnotmeetthecriteriafor diagnosisofMFS,accordingtotherevisedGhentNosology.
Figure1 Murdochsign.
Figure2 Planuvalgosfoot.
Howeverthepatienthasotherassociatedco-morbidities:
• Superficialvenousinsufficiency
• Inaugural episode of Atrial Fibrillation in 2009 with conversion tosinus rhythm afterloading dose of amio-darone
• BilateralPulmonary emphysemaassociated withpleural effusion
• Iodinecontrastallergy
• Chronichypertension,withClassIIINYHAgradefor car-diacfailure
• Inguinalhernioplastyin1984
Thepatientwasmedicatedwithwarfarin(suspendedfive days before admission fulfilling bridging with enoxaparin in therapeutic dose), omeprazole 20mg/day, carvedilol 25mg/day,ramipril5mg/dayandlosartan50mg/day.
Physicalexaminationrevealedthefollowing:HR70bpm regular,BP128/73mmHg;Oralcavitywithlowarchedpalate andslightretrognathiawhichanticipatedapotential diffi-cultintubation(Figs.3and4);Inter-incisordistance>3cm; thyromentonianlength>6cm,Mallampati1;Nodeformation orcervicaltumors;Noneckmovementlimitations;Evidence of thoracolumbar kyphoscoliosis in Adams test (Fig. 5); Heartsounds preserved withmetallicmurmur dueto aor-tic prosthesis; and Decreased breathsound at baseswith subcrepitantrhonchus.
Figure3 Oralcavitywithlowarchedpalate.
Thepatientwassubmittedtolaparoscopic cholecystec-tomyundergeneralanesthesia.
He was premedicated with Hydroxyzine 25mg PO on the day before and 25mg PO on the day of the surgery, associatedwithlorazepaminthesameschemeand enoxa-parin in therapeutic dose (lastdose 12h before surgery). Antibioticprophylaxiswascarriedoutwith2gofcefazolin IV+Gentamycin 80mg IV and prophylaxis of stress peptic ulcerwithesomeprazole40mgIV.
Monitoringwithpulseoximeter,noninvasiveBP, electro-cardiographyandcapnographywasstarted.
TwoperipheralIVlinesofhighcaliberweresecured,with localanesthesia(20GMSEand16GMSE).
Preoxygenationwasperformedwith100%O2for4min.
Figure4 Oralcavitywithslightretrognathia.
Figure5 ThoracolumbarkyphoscoliosisinAdamstest.
Anesthesia was induced with remifentanil, 200mg of propofol and 50mg of rocuronium. The patient was ven-tilated with a facemask with 100% O2 for 2min, before being intubated by direct laryngoscopy without difficulty (Cormack-LehaneIndex1).
The patient was ventilated in controlled volume and anesthesiawasmaintained withsevoflurane and remifen-tanilperfusion.
Postoperativenauseaandvomitingprophylaxiswas per-formedwithdroperidol1.25mganddexamethasone8mg.
Thesurgeryproceededuneventfullyandlastedfor1h.
Figure7 CT angiogram shows the reconstructionof thora-coabdominalaorticconduit.
Reversion of neuromuscular blockade was made with 2.5mgof neostigmineand1mgof atropineandthe extu-bationprogresseduneventfully.
AnalgesiawasachievedwithParacetamol,Metamizoland morphine24mg/day.
Thepatientwasdischargedonthe3rdpostoperativeday withoutcomplaintsorrecordofcomplications.
Figure8 MRIangiographyperformed.
Discussion
NewdiagnosticcriteriaforMFSgivemoreemphasistoaortic rootaneurysmandectopialentis,withorwithoutfamily his-toryorpositiveFBN1genetestleavingthesystemicfeatures onthebackburner.8ThispatienthasaZ-Score(after
surgi-calcorrection) of −1.99, fulfillingseveral systemicpoints forMFSdiagnosis.Properdiagnosisiscrucialforthe appro-priate evaluation of thepatient and toavoid predictable and potentially fatal complications such as rupture of an aorticaneurysm.Thenewdiagnosticcriteria,notorganized onorgansystems,strengthentheroleofthe anesthesiolo-gistonperformingcarefulevaluationofthepotentialorgans involved.
Onphysicalexamination,oneshouldbealerttosignsof congestive heart failure. Cardiovascular functional status needs tobeassessed, includingECG,cardiac catheteriza-tion,MRIandechocardiographyasindicated toaccessthe size of the aortic root and valvular function. Inthis case report, the metallic murmur wasdue to aortic prosthesis placed on previous surgery. Nevertheless, an echocardio-gram was performed and revealed a preserved function. Regardinglungfunction,MFSpatientsnormallypresentwith restrictive ventilatory defects, not only because of the underlyingemphysema,butalsoduetothemusculoskeletal changesthataffectthoracicexpansion.9Thepatienthasa
scoliosisdegreegreaterthan20whichjustifieshisdescribed ventilatorychanges.
Strict preoperative control of blood pressure is vitally important to minimize shear forces and wall stress in the aorta to decrease the risk of aortic rupture or dis-section. Perioperative maintenance of beta-blocker10 is
recommended in ordertoreduce myocardial contractility andcontrolaorticwalltension.Inthecaseofthispatient, giventheexistenceofanaorticmechanicalprosthesisand thoraco-abdominal aortic conduit, the controlof vascular walltensionisimperative,especiallywiththeevidenceofa chronictypeBaorticdissection.Recentstudiessuggest ben-efitofvasodilatorbeta-blockerstocontrolhypertensionin MFSpatients.11 Patientsneedingadditionalmedicationsto
controlbloodpressure,especiallythosewithchronic dissec-tions,mightbetreatedwithanangiotensinreceptorblocker inadditionto-blockade.8
Inpatientswithvalvereplacements,antibiotic prophy-laxisandwarfarinbridgingshouldbecarriedouttimeously, aswasinthiscasereport.12
Properpositioningandlimbsupportmustbeassured, con-sidering theligamentoushyperlaxityandincreasedrisk of jointdamage.
Theanesthesiologistshouldbepreparedforapotentially difficult intubation owing to factors related with arched palate,retrognathiaandligamentoushyperlaxity13thatcan
leadtojointluxationduringneckextension(cervicalspine, tempuromandibular).
barotraumaandreducetheriskofpneumothorax,especially ifthepatienthasapreviousdiagnosisoflungcysts. Tracheo-malacia has been reported as a potential complication.14
In this case, the patient had a history of spontaneous pneumothoraxthataloneincreasestheriskofanew pneu-mothorax even ifpleurodesis was performed.15 This fact,
associated withthe trendelenburgposition and increased intra-abdominalpressureinherenttolaparoscopicsurgery, increasethelikelihoodofdevelopingpneumothorax.Asfor intraoperative fluid therapy, the primarygoal is to main-tain blood volume in order to decrease the chances of aorticand/ormitralvalveprolapse.Thereisnoanesthetic techniquethat hasproven more effective.The induction, maintenanceandrecoveryofanesthesiaandpostoperative analgesiaarekeptatthediscretionoftheanesthesiologist, alwayspayingattentiontocardiovascularbalance.16
Conclusion
In conclusion, the preexisting cardiovascular disease and the potential for acute cardiovascular and respiratory complicationsinpatientswithMFSdemandcareful preoper-ativeassessmentandtheuseofskillfulanesthetictechnique toavoidfatalcomplications. Bloodpressurecontrolis the centralcomponentofperioperative management.Therisk of perioperative morbidity and mortality, including unex-plaineddeath,ishigh.17
The new revised criteria decrease the range of MFS diagnosis inpatients withpositive phenotypebutminimal aortic root dilatation. But phenotypechanges, as well as borderline aortic root dilatation, even without a definite diagnosis,influencetheconductoftheanesthesiologiston the perioperative and intraoperative period as described above.
Lastly,an anesthesiologist shouldcomplementthe new revisedcriteriawiththeoldclassificationtoprevent peri-operativeimportantmorbidityonapatientthathaspositive diagnosisaccordingtooldcriteria,butnotaccordingtonew criteria.
Conflicts
of
interest
Theauthorsdeclarenoconflictsofinterest.
Acknowledgements
TheauthorsaregratefultoAnesthesiaDepartmentofSanta MariaHospitalforalltherecordsprovided.Theywouldalso liketothankallthestudyparticipants,especiallyDr.Célia Xavier,forvaluablediscussions.
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