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


Principal Investigator – Prof. Afif El-Khuffash

Down syndrome is a condition where there is an extra chromosome 21. Babies with Downs syndrome have well recognised features. Some babies with Downs Syndrome have an abnormal heart and need surgery to correct the defect. However, we are also 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 after birth. This has not been studied before.

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 Downs Syndrome over the first 2 years of age using these methods. We hope that with the information learned we will help us better manage babies with this condition. 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).

This study will be done in the three Dublin Maternity Hospitals: The Rotunda Hospital, The National Maternity Hospital, and The Coombe Women and Infants University Hospital. A total number of 120 babies are required to complete the study. We hope that this study will help us understand better how the heart works using echocardiography to assess their heart function. The ultrasound machine has no radiation. The test takes 15 minutes.

Babies with Down Syndrome normally have echocardiograms performed as part of their clinical management on day 1 and day 2 of age. This is now part of routine clinical care for babies with Down Syndrome. We request that we use this information from these echocardiograms as part of our research study. With consent, we will also request an additional third scan prior to your discharge home in addition to usual follow up echocardiograms at six months, one year and two years of age. The test will take about 15 minutes each time. Those will be carried out in the outpatient department of our hospital. All infants will have standardised clinical developmental follow up at 6, 12, and 24 months of age followed by an assessment by the paediatric developmental psychologist in Tallaght Hospital.