Skip to main content
Top
Published in: European Journal of Pediatrics 10/2010

Open Access 01-10-2010 | Original Paper

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

Authors: Michel Emile Weijerman, A. Marceline van Furth, Maurike D. van der Mooren, Miriam M. van Weissenbruch, Lukas Rammeloo, Chantal J. M. Broers, Reinoud J. B. J. Gemke

Published in: European Journal of Pediatrics | Issue 10/2010

Login to get access

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.
Literature
1.
go back to reference Cua CL, Blankenship A, North AL et al (2007) Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr Cardiol 28:250–254CrossRefPubMed Cua CL, Blankenship A, North AL et al (2007) Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr Cardiol 28:250–254CrossRefPubMed
2.
go back to reference Cunnif C, Frias JL, Kaye C et al (2001) Health supervision for children with Down syndrome, American Academy of Pediatrics. Pediatrics 107:442–449CrossRef Cunnif C, Frias JL, Kaye C et al (2001) Health supervision for children with Down syndrome, American Academy of Pediatrics. Pediatrics 107:442–449CrossRef
3.
go back to reference De Rubens FJ, del Pozzo MB, Hach JLP et al (2003) Heart malformations in children with Down syndrome. Rev Esp Cardiol 56:894–899CrossRef De Rubens FJ, del Pozzo MB, Hach JLP et al (2003) Heart malformations in children with Down syndrome. Rev Esp Cardiol 56:894–899CrossRef
4.
go back to reference Freeman SB, Bean LH, Allen EG et al (2008) Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 10:173–180CrossRefPubMed Freeman SB, Bean LH, Allen EG et al (2008) Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 10:173–180CrossRefPubMed
5.
go back to reference Frid C, Drott P, Otterblad OP et al (2004) Maternal and neonatal factors and mortality in children with Down syndrome born in 1973–1980 and 1995–1998. Acta Paediatr 93:106–112CrossRefPubMed Frid C, Drott P, Otterblad OP et al (2004) Maternal and neonatal factors and mortality in children with Down syndrome born in 1973–1980 and 1995–1998. Acta Paediatr 93:106–112CrossRefPubMed
7.
go back to reference Jacobs EG, Leung MP, Karlberg J (2000) Distribution of symptomatic congenital heart disease in Hong Kong. Pediatr Cardiol 21:148–157CrossRefPubMed Jacobs EG, Leung MP, Karlberg J (2000) Distribution of symptomatic congenital heart disease in Hong Kong. Pediatr Cardiol 21:148–157CrossRefPubMed
8.
go back to reference Jaiyesimi O, Baichoo V (2007) Cardiovascular malformations in Omani Arab children with Down's syndrome. Cardiol Young 17:166–171CrossRefPubMed Jaiyesimi O, Baichoo V (2007) Cardiovascular malformations in Omani Arab children with Down's syndrome. Cardiol Young 17:166–171CrossRefPubMed
9.
go back to reference Kortenhorst MSQ, Hazekamp MG, Rammeloo LAJ et al (2005) Complete atrioventricular septal defect in children with Down´s syndrome: good results of surgical correction at younger and younger ages. Ned Tijdschr Geneeskd 149:589–593PubMed Kortenhorst MSQ, Hazekamp MG, Rammeloo LAJ et al (2005) Complete atrioventricular septal defect in children with Down´s syndrome: good results of surgical correction at younger and younger ages. Ned Tijdschr Geneeskd 149:589–593PubMed
10.
go back to reference Lange R, Guenther T, Busch R et al (2007) The presence of Down syndrome is not a risk factor in complete atrioventricular septal defect repair. J Thorac Cardiovasc Surg 134:304–310CrossRefPubMed Lange R, Guenther T, Busch R et al (2007) The presence of Down syndrome is not a risk factor in complete atrioventricular septal defect repair. J Thorac Cardiovasc Surg 134:304–310CrossRefPubMed
11.
go back to reference McElhinney DB, Straka M, Goldmuntz E et al (2002) Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 113:238–241CrossRefPubMed McElhinney DB, Straka M, Goldmuntz E et al (2002) Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet 113:238–241CrossRefPubMed
13.
go back to reference Shah PS, Hellmann J, Adatia I (2004) Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. J Perinat Med 32:168–170CrossRefPubMed Shah PS, Hellmann J, Adatia I (2004) Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. J Perinat Med 32:168–170CrossRefPubMed
14.
go back to reference Stoll C, Alembik Y, Dott B et al (1998) Study of Down syndrome in 238, 942 consecutive births. Ann Génét 41:44–51PubMed Stoll C, Alembik Y, Dott B et al (1998) Study of Down syndrome in 238, 942 consecutive births. Ann Génét 41:44–51PubMed
15.
go back to reference Torfs CP, Christianson RE (1998) Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 77:431–438CrossRefPubMed Torfs CP, Christianson RE (1998) Anomalies in Down syndrome individuals in a large population-based registry. Am J Med Genet 77:431–438CrossRefPubMed
16.
go back to reference Vis JC, Duffels MGJ, Winter MM et al (2009) Down syndrome: a cardiovascular perspective. J Intellect Disabil Res 53:419–425CrossRefPubMed Vis JC, Duffels MGJ, Winter MM et al (2009) Down syndrome: a cardiovascular perspective. J Intellect Disabil Res 53:419–425CrossRefPubMed
17.
go back to reference Wahab AA, Bener A, Sandridge AL et al (2006) The pattern of Down syndrome among children in Qatar: a population-based study. Birth Defects Res A Clin Mol Teratol 76:609–612CrossRefPubMed Wahab AA, Bener A, Sandridge AL et al (2006) The pattern of Down syndrome among children in Qatar: a population-based study. Birth Defects Res A Clin Mol Teratol 76:609–612CrossRefPubMed
18.
go back to reference Walsh-Sukys MC, Tyson JE, Wright LL et al (2000) Persistent pulmonary hypertension of the newborn in the era before nitric oxide: practice variation and outcomes. Pediatrics 105:14–20CrossRefPubMed Walsh-Sukys MC, Tyson JE, Wright LL et al (2000) Persistent pulmonary hypertension of the newborn in the era before nitric oxide: practice variation and outcomes. Pediatrics 105:14–20CrossRefPubMed
19.
go back to reference Weijerman ME, van Furth AM, Vonk Noordegraaf A et al (2008) Prevalence, neonatal characteristics and first-year mortality of Down syndrome: a national study. J Pediatr 152:15–19CrossRefPubMed Weijerman ME, van Furth AM, Vonk Noordegraaf A et al (2008) Prevalence, neonatal characteristics and first-year mortality of Down syndrome: a national study. J Pediatr 152:15–19CrossRefPubMed
20.
go back to reference Wells GL, Barker SE, Finley SC et al (1994) Congenital heart disease in infants with Down's syndrome. South Med J 87:724–727CrossRefPubMed Wells GL, Barker SE, Finley SC et al (1994) Congenital heart disease in infants with Down's syndrome. South Med J 87:724–727CrossRefPubMed
21.
go back to reference Wren C, Richmond S, Donaldson L (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 80:F49–F53CrossRefPubMed Wren C, Richmond S, Donaldson L (1999) Presentation of congenital heart disease in infancy: implications for routine examination. Arch Dis Child Fetal Neonatal Ed 80:F49–F53CrossRefPubMed
Metadata
Title
Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome
Authors
Michel Emile Weijerman
A. Marceline van Furth
Maurike D. van der Mooren
Miriam M. van Weissenbruch
Lukas Rammeloo
Chantal J. M. Broers
Reinoud J. B. J. Gemke
Publication date
01-10-2010
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 10/2010
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-010-1200-0

Other articles of this Issue 10/2010

European Journal of Pediatrics 10/2010 Go to the issue