Recurrent fetal truncus arteriosus associated with PMM2‐CDG 2021 Filipa Malheiro.pdf

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DOI:
LETTERTOTHEEDITOR
Recurrentfetaltruncusarteriosusassociatedwith
PMM2-CDG
TotheEditor:defectorthepresenceofotherconcomitantanomalies
Therecentarticle“Vascularringanomalyinacannotmakeorexcludethediagnosis.
patientwithphosphomannomutase2deficiency:acaseTheidentificationofthePMM2genevariantsinthis
reportandreviewoftheliterature”publishedinJIMDcoupleallowedustoinformthemofariskof25%of
ReportsbyQuianetalsuggeststhatcongenitaldefectsofCDGineverypregnancyandgivesthemapossibilityof
glycosylation(CDG)shouldbepartofthedifferentialanearlierdiagnosisincaseofaspontaneouspregnancy
-
(PGT-M).
Anonconsanguineouscouple,withahistoryoftwoHerewepresenttwomorePMM2-CDGpatients
medicalterminationsofpregnancyfollowingatruncuswithcardiacmalformationsaddingtothe14described
arteriosusdiagnosis,wascounseledatourPrenatalDiag--
-
nocomplicationsuntiltheultrasounddiagnosisofatanceofincludingCDGinthedifferentialdiagnosisof
.
Inthefirstpregnancy,thepathologyexamconfirmed
theultrasounddiagnosisoftype2truncusarteriosusandCONFLICTOFINTEREST
.
Inthesecondpregnancy,thepathologicfindingswere
alsocompatiblewithatype2truncusarteriosusandtheAUTHORCONTRIBUTIONS
microscopyexamsuggestedanirregularityofthevermisFilipaMalheiro:datacollection,draftingthearticle;Man-
:datacollection,revisingthearticle;Carlos
TherecurrentdiagnosismotivatedthewholeexomeMacedo:datacollection,revisingthearticle;:
genesequencinginthesecondfetus(thegeneticstudyofconception,revisingthearticle.
thefirstfetusisongoing)thatidentifiedtwoheterozygous
variantsinthephosphomannomutase2(PMM2)gene:
>Ap.(Glu139Lys)>Ap.(Arg141His).PATIENTSCONSENTSTATEMENT
>Ap.(Glu139Lys)wasdetectedinthe
>Ap.(Arg141His)intheThisarticledoesnotcontainanystudieswithhumanor
.
PMM2pathogenicvariantsarethemostcommoncause
ofCDG,whichisassociatedwithneurodevelopmentaldis-
abilityandaffectsmultipleorgansystemsincludingcerebel-FilipaMalheiro1
,theassociationwithcongenitalManuelaSilva1,2
heartdefects(CHDs)
%(%CarlaRamalho1,2,4
truncusarteriosus)ofCHDsin960patientswith
PMM2-%(1%oftruncusarteri-1DepartmentofObstetrics,CentroHospitalare
osus)áriodeSao~Joao,~Porto,Portugal
Accordingly,screeningforotheranomaliesisofthe2DepartmentofObstetrics-GynecologyandPediatrics,
,UniversityofPorto,Porto,Portugal
ThisisanopenaccessarticleunderthetermsoftheCreativeCommonsAttributionLicense,whichpermitsuse,distributionandreproductioninanymedium,provided
theoriginalworkisproperlycited.
©&SonsLtdonbehalfofSSIEM.
;59:120–121.
LETTERTOTHEEDITOR121
3DepartmentofObstetrics-Gynecology,élioORCID
Mendonça,Madeira,PortugalFilipaMalheiro-0001-8547-8924
4i3SInstitutodeInovaçao~eInvestigaçao~emSaúde,Porto,
PortugalREFERENCES
,VandenEyndeJ,HeymansS,MertensL,MoravaE.
CorrespondenceVascularringanomalyinapatientwithphosphomannomutase
FilipaMalheiro,DepartmentofObstetrics,Centro2deficiency:.
HospitalareUniversitáriodeS~aoJo~ao,Porto,;56:27-33.
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