Longitudinal Assessment of Cardiac Function and Pulmonary Haemodynamics in Infants with Down Syndrome

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.