Andersons pediatric cardiology 1588

recessivecutislaxasyndrome.AmJHumGenet.
2006;78(6):1075–1080.
189.HuQ,ReymondJL,PinelN,ZabotMT,Urban
Z.Inflammatorydestructionofelasticfibersin
acquiredcutislaxaisassociatedwithmissense
allelesintheelastinandfibulin-5genes.JInvest
Dermatol.2006;126(2):283–290.
190.UrbanZ,GaoJ,PopeFM,DavisEC.Autosomal
dominantcutislaxawithseverelungdisease:
synthesisandmatrixdepositionofmutant
tropoelastin.JInvestDermatol.
2005;124(6):1193–1199.
191.BonneauD,HuretJL,GodeauG,etal.Recurrent
ctb(7)(q31.3)andpossiblelaminininvolvement
inaneonatalcutislaxawithamarfanphenotype.
HumGenet.1991;87:317–319.
192.FolkestadL,HaldJD,GramJ,etal.
Cardiovasculardiseaseinpatientswith
osteogenesisimperfect-anationwide,registerbasedcohortstudy.IntJCardiol.2016;225:250–
257.
193.HortopJ,TsipourasP,HanleyJA,MaronBJ,
ShapiroJR.Cardiovascularinvolvementin
osteogenesisimperfecta.Circulation.
1986;73(1):54–61.
194.KastrupM,vonHeymannC,HotzH,etal.
RecombinantfactorVIIaafteraorticvalve


replacementinapatientwithosteogenesis
imperfecta.AnnThoracSurg.2002;74(3):910–
912.

195.VetterU,MaierhoferB,MűllerM,etal.
Osteogenesisimperfectainchildhood:cardiac
andrenalmanifestations.EurJPediatr.
1989;149(3):184–187.
196.NollenGJ,MulderBJ.Whatisnewinthe
MarfanSyndrome?IntJCardiol.2004;97(suppl
1):103–108.
197.PhornphutkulC,RosenthalA,NadasAS.
CardiacmanifestationsofMarfanSyndromein
infancyandchildhood.Circulation.
1973;47:587–596.
198.DePaepeA,DevereuxRB,DietzHC,
HennekamRC,PyeritzRE.Reviseddiagnostic
criteriafortheMarfanSyndrome.AmJMed
Genet.1996;62(4):417–426.
199.LoeysBL,DietzHC,BravermanAC.Etal:the
revisedghentnosologyfortheMarfan
Syndrome.JMedGenet.2010;47:476–485.
200.BrunoL,TrediciS,MangiavacchiM,etal.
Cardiac,skeletalandocularabnormalitiesin
patientswithMarfan'ssyndromeandintheir
relatives.Comparisonwiththecardiac
abnormalitiesinpatientswithkyphoscoliosis.Br
HeartJ.1984;51:220–230.


201.DislerLJ,MangaP,BarlowJB.Pulmonary
arterialaneurysmsinMarfan'ssyndrome.IntJ
Cardiol.1988;21(1):79–82.
202.ChenS,FaganLF,NouriS,DonahoeJL.

Ventriculardysrhythmiasinchildrenwith
Marfan'ssyndrome.AmJDisChild.
1985;139(3):273–276.
203.SavolainenA,KetoP,HakalP,etal.Aortic
distensibilityinchildrenwithMarfanSyndrome.
AmJCardiol.1992;70:691–692.
204.NagashimaH,SakomuraY,AokaY,etal.
AngiotensinIItype2receptormediatesvascular
smotthmusclecellapoptosisincysticmedial
degenrationassociatedwithMarfan'ssyndrome.
Circulation.2001;104(12suppl1):I282–I287.
205.Marfansyndrome:anupdateofgenetics,medical
andsurgicalmanagement.Heart.
2007;93(6):755–760.
206.MizuguchiT,MatsumotoN.Recentprogressin
geneticsofMarfanSyndromeandMarfanassociateddisorders.JHumGenet.
2007;52(1):1–12.
207.RobertsWC,HonigHS.Thespectrumof
cardiovasculardiseaseintheMarfanSyndrome:
aclinico-morphologicstudyof18necropsy
patientsandcomparisonto151previously
rpeortednecropsypatients.AmHeartJ.