title: Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome.
abstract: The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (p < 0.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (p = 0.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified.
authors.affiliation: Department of Paediatrics, Subdivision of General Paediatrics and Infectious Diseases, VU University Medical Center, Amsterdam, the Netherlands. weijerman@vumc.nl
authors.forename: Michel Emile
authors.initials: ME
authors.lastname: Weijerman
authors.forename: A Marceline
authors.initials: AM
authors.lastname: van Furth
authors.forename: Maurike D
authors.initials: MD
authors.lastname: van der Mooren
authors.forename: Miriam M
authors.initials: MM
authors.lastname: van Weissenbruch
authors.forename: Lukas
authors.initials: L
authors.lastname: Rammeloo
authors.forename: Chantal J M
authors.initials: CJ
authors.lastname: Broers
authors.forename: Reinoud J B J
authors.initials: RJ
authors.lastname: Gemke
mesh_terms: D016009:Chi-Square Distribution; D004314:Down Syndrome / Q000453:epidemiology*; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D010547:Persistent Fetal Circulation Syndrome / Q000453:epidemiology*; D015995:Prevalence; D011446:Prospective Studies; D012044:Regression Analysis; D018709:Statistics, Nonparametric
references.citation: Ann Genet. 1998;41(1):44-51
references.pmid: 9599651
references.citation: J Pediatr. 2008 Jan;152(1):15-9
references.pmid: 18154890
references.citation: Arch Dis Child Fetal Neonatal Ed. 1999 Jan;80(1):F49-53
references.pmid: 10325813
references.citation: Am J Med Genet. 1998 Jun 5;77(5):431-8
references.pmid: 9632176
references.citation: J Perinat Med. 2004;32(2):168-70
references.pmid: 15085894
references.citation: Rev Esp Cardiol. 2003 Sep;56(9):894-9
references.pmid: 14519277
references.citation: Birth Defects Res A Clin Mol Teratol. 2006 Aug;76(8):609-12
references.pmid: 16955492
references.citation: Cardiol Young. 2007 Apr;17(2):166-71
references.pmid: 17244386
references.citation: Genet Med. 2008 Mar;10(3):173-80
references.pmid: 18344706
references.citation: J Intellect Disabil Res. 2009 May;53(5):419-25
references.pmid: 19228275
references.citation: Pediatr Cardiol. 2007 Jul-Aug;28(4):250-4
references.pmid: 17486396
references.citation: Pediatrics. 2001 Feb;107(2):442-9
references.pmid: 11158488
references.citation: Ned Tijdschr Geneeskd. 2005 Mar 12;149(11):589-93
references.pmid: 15799643
references.citation: South Med J. 1994 Jul;87(7):724-7
references.pmid: 8023205
references.citation: Pediatrics. 2000 Jan;105(1 Pt 1):14-20
references.pmid: 10617698
references.citation: Pediatr Cardiol. 2000 Mar-Apr;21(2):148-57
references.pmid: 10754087
references.citation: J Thorac Cardiovasc Surg. 2007 Aug;134(2):304-10
references.pmid: 17662766
references.citation: Am J Med Genet. 2002 Dec 1;113(3):238-41
references.pmid: 12439890
references.citation: Acta Paediatr. 2004 Jan;93(1):106-12
references.pmid: 14989449