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: January 2015

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

Materials from DSMIG symposium 12 June 2015 will be uploaded in due course

Additional Resources

Down’s Heart Group

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

Book Chapter – Cardiovascular disease

Robert Tulloh, Emma Pascall and Natali Chung

Down Syndrome – Current Perspectivesds-current-perspectives-book-cover

Edited by Richard Newton , Shiela Puri and Liz Marder