Transposition of the great arteries in a neonate with Klinefelter syndrome-An incidental finding or a true association
| Autor: | Shuping Ge, Cesar Igor Mesia, Nicholas Obiri, Jinglan Liu, Carol E. Anderson, Achintya Moulick |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Heart Defects
Congenital Male medicine.medical_specialty Genetic counseling Prenatal diagnosis Article Internal medicine Conotruncal defect Genetics medicine Humans Family history Genetics (clinical) Pregnancy Sex Chromosomes medicine.diagnostic_test business.industry Obstetrics Aneuploidy medicine.disease Endocrinology Genetic Loci Great arteries Female Klinefelter syndrome business Fetal echocardiography |
| Zdroj: | American Journal of Medical Genetics Part A. 167:268-270 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.36814 |
| Popis: | We read with great interest the article by Osoegawa et al. [2014]whichshowedincreasedriskofsexchromosomeaneuploidyamongmales with congenital conotruncal defects. A boy born with trans-position of the great arteries (TGA) was found to have a 47,XXYchromosomecomplement which isconsistentwithaclinical diag-nosisofKlinefeltersyndrome(KS)[Osoegawa etal.,2014].Adatiaetal.[1987]documentedTGAinaneonatewith47,XXYKSin1987forthe first time. Here we report, to the best of our knowledge, onthe third such case.Klinefelter syndrome is the most common sex-chromosome dis-orderaffectingapproximately1in660men.KSischaracterizedbythepresence of one or more extra X chromosomes, with X disomy (47,XXY)beingthemostprevalentvariant[BojesenandGravholt,2007].KSwith47,XXYisseriouslyunderdiagnosed.Specificfeaturessuchastallstature,infertility,andsmalltestesoftenpresentafterthepuberty.Adiagnosisatbirthseemsimpossible,only25%ofexpectedcasesarediagnosedinlifetime,andlessthan5%ofdiagnosisaremadepriortoage 10 [Abramsky and Chapple, 1997; Bojesen and Gravholt, 2007].Despitebeinghistoricallyassociatedwithincreasedmortality,limitedstudyhasbeenconductedoncardiaclesionsinKS[Adatiaetal.,1987;Paduchetal.,2008].Onlyuntilrecently,cardiovascularabnormalitieshave been proposed to contribute to the reduced life span in KS[Pasquali et al., 2013].Transposition of the great arteries occurs when the pulmonaryarteryandtheaortaareswitchedinposition,andisoneofthemostseverecongenitalheartdiseases(CHD).TGAisseenin2–3/10,000livebirths,representingabout20–30%ofconotruncaldefectswithsitussolitus,andismorecommonamongmales[Relleretal.,2008;Unolt et al., 2013]. TGA is not associated with genetic syndromesexceptheterotaxy[Unoltetal.,2013].Ofnote,KSwasnotsuspectedinitiallyforanyofthethreecaseswithTGAdiscussedinthisletter.Theproband,aCaucasianmale,referredfromanoutsidehospitaldue to a prenatal diagnosis of TGA by fetal echocardiography in thefirsttrimester.Hewasborntoa43-year-old,G1P0motherat315/7weeks gestation with a healthy twin sister via cesarean. His APGARscoreswere4at1minand8at5min,w ithaweight(1.40kg),alength(41cm) and a head circumference (27.5cm) all around 10th–50thcentile.Hewasintubatedandplacedonventilatoratthedelivery,andtransportedtoourhospitalwherehestayedinNICUfor3months.Hehad mild nuchal fold thickening, posteriorly rotated ears, bilateralimmature vascularization in eyes, long fingers, sandal toe gaps, andmild jaundice. He had normal male external genitalia. Physicalexamination was otherwise unremarkable. The pregnancy wasachievedthroughinvitrofertilization(IVF)withanunknownspermdonor. Prenatal genetic counseling was received but prenatal genetictesting was declined. The mother had no major medical conditions,and denied any history of tobacco, alcohol, or illicit drug use duringthe pregnancy. Maternal family history was not significant for con-genital heart diseases, genetic disorders, birth defects, intellectual |
| Databáze: | OpenAIRE |
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