Longitudinal assessment of cardiac function in infants with Downs Syndrome using novel echocardiography techniques

Down syndrome is a condition where there is an extra chromosome 21. Babies with Down syndrome have well recognised features. Some babies with Down syndrome have an abnormal heart and need surgery to correct the defect. For this study we are interested in the proportion of babies who have a normal heart structure. Those babies can have abnormal heart function over the first few days of life, particularly over the right side of the heart. This can happen because the blood vessels in the lungs fail to relax adequately after birth. This has not been studied before. We believe that research must be performed to evaluate heart function in these patients. This will improve our understanding of these infant's hearts in early life. More knowledge, may in the future, improve our ability to manage these patients and predict outcomes. Echocardiography is an ultrasound technique used to assess the function of heart muscles. Newer echocardiographic methods can assess heart function in a more accurate way. Our research group have recently tested the use of those markers in stable preterm and term infants and demonstrated that they can be accurately and reliably used to assess heart function. We want to follow heart function in babies with Down syndrome over the first 2 years of age using these methods. We hope that with the information learned we will improve our ability to manage these babies and predict poor outcomes such as the need to prolonged oxygen and ventilation. At present there is no available data on serial echocardiography in well term babies to compare with our findings. Therefore we also want to recruit a cohort of healthy term infants as a control group to compare the results with our study patients (infants with downs syndrome).


Award Date
06 April 2017
Award Value
Principal Investigator
Professor Afif El-Khuffash
Host Institution
Royal College of Surgeons in Ireland
National Children's Hospital Foundation Scheme