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Pulmonary hypertension and myocardial function in infants and children with Down syndrome
  1. Aisling Mary Smith1,
  2. Philip T Levy2,3,
  3. Orla Franklin4,
  4. Eleanor Molloy5,6,
  5. Afif EL-Khuffash1,7
  1. 1 Neonatology, Rotunda Hospital, Dublin, Ireland
  2. 2 Paediatrics, Boston Childrens Hospital, Boston, Massachusetts, USA
  3. 3 Harvard Medical School, Boston, Massachusetts, USA
  4. 4 Paediatric Cardiology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
  5. 5 Paediatrics and Child Health, Trinity College Dublin, Dublin, Ireland
  6. 6 Neonatology, Coombe Women and Infants University Hospital, Dublin, Ireland
  7. 7 School of Medicine, Royal College of Surgeons in Ireland, Dublin, Ireland
  1. Correspondence to Dr Aisling Mary Smith, Neonatology, Rotunda Hospital, Dublin 1, Ireland; smithai{at}


Down Syndrome (DS) is the most common chromosomal abnormality of live born babies. Individuals with DS are at increased risk of cardiopulmonary morbidities in the early neonatal period, infancy and childhood that manifest with elevated pulmonary arterial pressures and altered myocardial performance. Pulmonary hypertension (PH) during the early neonatal period remains under-recognised in this population. PH may occur with or without a congenital heart defect in children with DS and is more common than in the general population. Early detection and continued screening of PH throughout infancy and childhood for these at-risk children is crucial for prompt intervention and potential prevention of long-term sequelae on cardiac function. This review summarises the main physiological concepts behind the mechanisms of PH in children with DS and provides a summary of the current available literature on PH and its impact on myocardial performance.

  • down syndrome
  • pulmonary hypertension
  • echocardiography
  • myocardial function

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  • Contributors AMS and AE-K wrote the first draft of the manuscript. OF provided support with the concept and cardiology expertise. PTL and EM aided with the editing of the first draft and literature review. AE-K provided senior oversight to the project.

  • Funding Research in the laboratory of the authors is currently funded by grants from the Health Research Board/National Children's Hospital Foundation (HRB/NCHF-2017-005) and the Mother and Baby Clinical Trials Network Ireland (CTN-2014-10).

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.