Longitudinal Assessment of Cardiac Function and Pulmonary Haemodynamics in Infants with Down Syndrome
thesisposted on 21.03.2022, 17:38 authored by Aisling Smith
Introduction: Infants with Down syndrome (DS)are at an increased risk of cardiopulmonary morbidity from birth. However, there is a dearth of information regarding longitudinal assessment of myocardial performance and pulmonary haemodynamics in infants with DS, both with and without structural cardiac disease, over the first two years of age.
Hypothesis & Aim: Our study hypothesis was that babies with DS have both persistent myocardial impairment and develop pulmonary hypertension (PH)more frequently and to a more severe extent than their non-DS counterparts, independent of structural cardiac disease. The aim of this study was to serially assess left ventricular (LV) and right ventricular (RV) performance and measurements of pulmonary haemodynamics in babies with DS, with and without congenital heart disease (CHD), utilising advanced echocardiography techniques over the first two years of age and to compare those measurements to a cohort of non-DS controls.
Methods: This was a prospective observational cohort study performed across the three tertiary neonatal units of Dublin. All infants with a diagnosis of DS made antenatally or postnatally were eligible for inclusion. Echocardiography was performed at six time points over the first two years of age for both the DS and control cohorts using novel echocardiography modalities including tissue Doppler imaging and speckle tracking echocardiography.
Results: Seventy babies with DS and 60 control infants were enrolled. Forty-eight (69%) of infants with DS were born with CHD. There is sustained impairment of biventricular systolic and diastolic performance and indices of PH in infants with DS, irrespective of structural cardiac disease, compared to controls over the first two years of age.
Conclusion: This work provides new insights into the evolution of LV and RV function and pulmonary haemodynamics in infants with DS over the first two years of age.
National Children’s Research Centre, Research and Education Support Grant D/17/7
First SupervisorProf Afif EL-Khuffash
Second SupervisorProf Naomi McCallion
Third SupervisorDr Orla Franklin
CommentsSubmitted for the degree of Doctor of Philosophy from the Royal College of Surgeons in Ireland in 2021
Published CitationSmith, AM., Longitudinal Assessment of Cardiac Function and Pulmonary Haemodynamics in Infants with Down Syndrome [PhD Thesis]. Dublin: Royal College of Surgeons in Ireland 2021
Degree NameDoctor of Philosophy (PhD)
Date of award30/11/2021
- Doctor of Philosophy (PhD)