Andersons pediatric cardiology 1563

commonlyseen,asareinguinalhernias.Ocularabnormalitiesoccurinabout
three-quartersofpatients.Themostfrequentaresubluxationofthelensesand
myopia.Becauseoftheimportanceofidentifyingindividualswiththisdisease,a
multidisciplinarygroupofexpertsproduceddiagnosticcriteriaknownasthe
Ghentnosology.198The2010revisedGhentnosologyisdividedintothosewith
apositivefamilyhistoryandthosewithoutapositivefamilyhistory.Forthose
withoutapositivefamilyhistory,thedefinitivediagnosiscanbemadewith
aorticrootdilation(z-scoreplus2atthesinusofValsalvaoraorticroot
dissection)andoneofthefollowing;ectopialentis,FBN1mutations,and/ora
systemicscoreof7orgreater.Intheabsenceofaorticrootdilationthediagnosis
canbemadeinthepresenceofectopialentisandanFBN1mutationknownto
causeaorticrootdilation.Inthepresentofapositivefamilyhistorythediagnosis
canbemadeinthepresenceofectopialentis,systemicscoreof7orgreater,or
anaorticrootz-scoreof2orgreaterifthepatientisaboveage20years,or3or
greaterifthepatientisyoungerthanage20years(Box59.1).Theadditionofthe
systemicscoreallowsforfindingsinmultipleorgansystemstobefactoredinto
thediagnosticcriteriaTable59.1.Adolescentsandchildrenmaynotmeetthe
criteria.Ifclinicalsuspicionremainshigh,thisgroupshouldstillbemonitored
foraorticrootdilation.199asystemicscorecalculatorwithadditionaldiagnostic
detailscanbefoundat />

FIG.59.3 (A)TypicalbodyhabitusofapatientwithMarfansyndrome
showshowthearmspanexceedstheheightbymorethan5%.(B)The
positivewristsignand(C)thepositivethumbsign.


Box59.1

2010RevisedGhentNosologyforthe
DiagnosisofMarfanSyndrome
AbsenceofFamilyHistoryofMarfanSyndrome

1.Aorticrootz-score≥2andectopialentis
2.Aorticrootz-score≥2andFBN1mutation
3.Aorticrootz-score≥2andsystemicscore≥7
4.EctopialentisandanFBN1mutationwithknownaorticrootdilation


PresenceofFamilyHistoryofMarfanSyndrome
1.Ectopialentis
2.Systemicscore≥7
3.Aorticrootz-score≥2if>20yearsoldandaorticrootz-score≥3if<20
yearsold
Table59.1
SystemicScoringforMarfanSyndrome
Feature
Wristandthumbsign
Pectuscarinatum
Hindfootdeformity
Spontaneouspneumothorax
Duralectasia(CTorMRI)
Protusiaacetabula(pelvicx-ray)
Reduceduppersegment/lowersegmentratioincreased
arm/heightratioa
Scoliosisorthoracolumbarkyphosis
Reducedelbowextension(angle<170degrees)
Threeoffivefacialfeatures
Skinstriae
Myopia>3diopters
Mitralvalveprolapse

Score

3points(1pointifeitherwristorthumbsign)
2points(1pointforpectusexcavatumorchest
asymmetry)
2points(1pointplainflatfoot)
2points
2points
2points
1point
1point
1point
1point
1point
1point
1point

aUS/LSratioisabnormalifitis<0.85inwhiteadultsand<0.78inblackadults.Forchildren

youngerthan10yearstheUS/LSratioisabnormalifitis<1forages0to5years,<0.95forages
6to7years,<0.9forages8to9years,and<0.85forage10years.Armspan/heightratiois
abnormalifitis>1.05.
Scoreispositiveifitis≥7outof20possiblepoints.
CT,Computedtomography;MRI,magneticresonanceimaging.

Cardiacmanifestationsinchildrenareusuallylessseverethanthoseinadults.
Mitralvalvediseaseintheformofprolapseandincompetence,presentin
approximatelythree-quartersofthepatients,arethemostfrequent
abnormalities.200Dilationoftheaorticrootandfusiformaneurysmsofthe
ascendingaortaarealsocommon,particularlyinmales.Themajorconsequences
oftheseaorticlesionsarevalvarregurgitationandaorticdissection.Aortic
involvementisprogressive,andtheriskofaorticdissectionincreaseswith

increasingdiameterduetoincreasesinmuralstress.Histopathologic