European Journal of Pediatrics

, Volume 170, Issue 7, pp 915–921 | Cite as

Management of pulmonary hypertension in Down syndrome

  • Amy Hawkins
  • Simon Langton-Hewer
  • John Henderson
  • Robert Michael Tulloh
Original Paper


Children with Down syndrome (DS) are at greater risk of pulmonary arterial hypertension (PAH) than the general population, partly due to upper airway obstruction and congenital heart disease. We wished to review our management of PAH and suggest a protocol for the systematic management of these children. Children with DS and PAH were included as referred for assessment from March 2005 to May 2010. Twenty-five patients (13 boys) met inclusion criteria. The median age was 385 days (range, 106 to 5,734); mean tricuspid regurgitation jet was 3.5 (range, 2.7–4.8) m/s. At cardiac catheterisation, mean pulmonary artery mean pressure was 26 mmHg (range, 12 to 46), and mean pulmonary vascular resistance (PVR) was 4.14 U.m2 (range, 1.20 to 12.43) at baseline. PVR fell to a mean of 2.68 U.m2 (range, 0.38 to10.69) with 20 ppm inhaled nitric oxide and 100% oxygen. Respiratory assessment included polysomnography (18), bronchoscopy (16), showing malacia (eight), adenotonsillar hypertrophy (eight) and floppy aryepiglottic folds (four). One lung biopsy showed plexogenic arteriopathy, and one was diagnosed with tracheo-oesophageal fistula. Conclusion: In order to manage this complex group of patients, a combined cardiological, respiratory and surgical approach was required. A protocol with cardiac catheterisation, blood tests and respiratory assessment is suggested for the management of pulmonary hypertension in these children.


Pulmonary hypertension Down syndrome Congenital heart disease Airway obstruction 


  1. 1.
    Andrews R, Tulloh R (2002) Pulmonary hypertension in pediatrics. Curr Opin Pediatr 14:603–605Google Scholar
  2. 2.
    de Miguel-Diez J, Villa-Asensi J, Alvarez-Sala JL (2003) Prevalence of sleep-disordered breathing in children with Down syndrome: polygraphic findings in 108 children. Sleep 26:1006–1009PubMedGoogle Scholar
  3. 3.
    Down’s Syndrome Medical Interest Group (DSMIG) (2007) Basic medical surveillance essentials for people with Down’s syndrome—cardiac disease: congenital and acquired. Available at Accessed February 2009
  4. 4.
    Down’s Syndrome Medical Interest Group (DSMIG) (2001) Respiratory disorders with Down’s syndrome: overview with diagnostic and treatment options. 2001. Available at Accessed February 2009
  5. 5.
    Eipe N, Lai L, Doherty D (2009) Severe pulmonary hypertension and adenotonsillectomy in a child with Trisomy-21 and obstructive sleep apnoea. Ped Anesth 19:541–553CrossRefGoogle Scholar
  6. 6.
    Freeman SB, Taft LF, Dooley KJ et al (1998) Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 80:213–217PubMedCrossRefGoogle Scholar
  7. 7.
    Geggel RL, O’Brien JE, Feingold M (1993) Development of valve dysfunction in adolescents and young adults with Down syndrome and no known congenital heart disease. J Pediatr 122:821–823PubMedCrossRefGoogle Scholar
  8. 8.
    Greenwood RD, Nadas AS (1976) The clinical course of cardiac disease in Down’s syndrome. Pediatrics 58:893–897PubMedGoogle Scholar
  9. 9.
    Kawai T, Wada Y, Enmoto T et al (1995) Comparison of hemodynamic data before and after corrective surgery for Down’s syndrome and ventricular septal defect. Heart Vessels 10:154–157PubMedCrossRefGoogle Scholar
  10. 10.
    Leonard H, Eastham K, Dark J (2000) Heart and heart lung transplantation in Down’s syndrome. BMJ 320:816–817PubMedCrossRefGoogle Scholar
  11. 11.
    Martin JE, Howarth KE, Khodaei I et al (2005) Aryepiglottoplasty for laryngomalacia: the Alder Hey experience. J Laryngol Otol 119:958–960PubMedGoogle Scholar
  12. 12.
    Masuda M, Kado H, Tanoue Y et al (2005) Does Down syndrome affect the long-term results of complete atrioventricular septal defect when the defect is repaired during the first year of life? Eur J Cardiothorac Surg 27:405–409PubMedCrossRefGoogle Scholar
  13. 13.
    Mitchell RB, Call E, Kelly J (2003) Diagnosis and therapy for airway obstruction in children with Down syndrome. Arch Otolaryngol Head Neck Surg 129:642–645PubMedCrossRefGoogle Scholar
  14. 14.
    Rabinovitch M, Keane JF, Norwood WI et al (1984) Vascular structure in lung tissue obtained at biopsy correlated with pulmonary hemodynamic findings after repair of congenital heart defects. Circulation 69:655–667PubMedGoogle Scholar
  15. 15.
    Roizen NJ, Patterson D (2003) Down’s syndrome. Lancet 361:1281–1289PubMedCrossRefGoogle Scholar
  16. 16.
    Rowland TW, Nordstrom LG, Bean MS et al (1981) Chronic upper airway obstruction and pulmonary hypertension in Down’s syndrome. Am J Dis Child 135:1050–1052PubMedGoogle Scholar
  17. 17.
    Shott SR, Amin R, Chini B et al (2006) Obstructive sleep apnea: should all children with Down syndrome be tested? Arch Otolaryngol Head Neck Surg 132:432–436PubMedCrossRefGoogle Scholar
  18. 18.
    Tulloh R (2005) Congenital heart disease in relation to pulmonary hypertension in paediatric practice. Paediatr Respir Rev 6:174–180PubMedCrossRefGoogle Scholar
  19. 19.
    Tulloh R (2009) Etiology, diagnosis and pharmacologic treatment of pediatric pulmonary hypertension. Paediatr Drugs 11:115–128PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Amy Hawkins
    • 1
  • Simon Langton-Hewer
    • 1
  • John Henderson
    • 1
  • Robert Michael Tulloh
    • 1
  1. 1.Departments of Congenital Heart Disease and Respiratory MedicineBristol Royal Hospital for ChildrenBristolUK

Personalised recommendations