Overview
Between 40 and 60% of babies with Down syndrome have congenital heart defects, the commonest being atrioventricular septal defect.
Pulmonary arterial hypertension, is also common and can affect those with or without congenital heart disease.
Screening in the newborn period is essential as signs and symptoms of these problems may not be present and prompt diagnostic assessment and treatment is important to reduce the long term impact.
Even with early treatment, many children with Down syndrome will have ongoing complications and pulmonary arterial hypertension. Close surveillance and active management throughout childhood and into adulthood is needed in order to optimise quality of life long term.
Last updated: March 2024
Dr Liz Marder, Consultant Paediatrician, Community and Neurodisability
DSMIG Guidance
Cardiac Disease – Basic medical surveillance essentials for people with Down syndrome
DSMIG evidence-based guideline for basic essential medical surveillance.
Last updated: Dec 2007
Keypoints- congenital heart disease in Down syndrome
March 2015
Presentations at DSMIG Meetings
Long term cardiac outcomes in adults with Down syndrome
Dr Simon Macdonald , Consultant Cardiologist, East Midlands Congenital Heart Centre, Leicester.
Pulmonary Hypertension causes and medical management in children and young people with Down syndrome
Professor Robert M R Tulloh DM FRCPCH, Consultant in Congenital Cardiology and Pulmonary Hypertension, Bristol Royal Hospital for Children and Bristol Heart Institute
Antenatal cardiac diagnosis. New DSA/DSMIG guidance on managing pregnancies affected by Down syndrome
Miss Lucy Kean, Service Lead for Obstetrics, Consultant, Fetal and Maternal Medicine, Nottingham University Hospitals NHS Trust
Cardiac surgery in patients with Down Syndrome
Mr Attilio Lotto – Consultant Congenital Cardiothoracic Surgery, Leicester
Down’s Heart Group Penny Green, Director,Down’s Heart Group
Diagnosis from a parents perspective – a look at Cardiac screening Dr Emma Pascall, MB BCh, Foundation Doctor, London Deanery
Postnatal diagnosis and management of the baby with CHD & Safe and Sustainable. Update on regional commissioning of Cardiac Centres. it mean for children with Down syndrome?
Dr Frances Bu’Lock Consultant Congenital and Paediatric Cardiology, East Midlands Congenital Heart Centre, Leicester
Additional Resources
Parent support group offering support and extensive information relating to heart conditions associated with Down syndrome
Recognising heart disease in children with Down syndrome
Dennis J, Archer N, Ellis J, Marder L. Arch Dis Child Educ Pract Ed. 2010 Aug;95(4):98-104. doi: 10.1136/adc.2007.126672.
Cardiac problems in Down syndrome
Marder L, Tulloh R, Pascall E. ( 2015) Paediatrics and Child Health 25:1:23-29
Cardiovascular Complications of Down Syndrome : Scoping Review and Expert consensus. Multiple authors for Down Syndrome International ( 2023) https://www.ahajournals.org/history/56cbf3f6-7523-425d-9710-360813406805/10.1161_circulationaha.122.059706_6805.pdf
Book Chapter – Cardiovascular disease
Robert Tulloh, Emma Pascall and Natali Chung
