Assessment of Myocardial Function in Infants of Mothers with Gestational Diabetes Mellitus Using Deformation Imaging over the First Year of Age.

OBJECTIVE: To assess serial myocardial performance and pulmonary vascular resistance (PVR) in infants of mothers with gestational diabetes mellitus (GDM) over the first year of life. STUDY DESIGN: This was a prospective, observational study. Echocardiography was performed at birth, 6 months, and 1 year of age. Pulmonary artery acceleration time and left ventricular (LV) eccentricity index provided surrogate measurements of PVR. Biventricular function was assessed by tissue Doppler imaging and deformation analysis. RESULTS: Fifty infants of mothers with GDM were compared with 50 controls with no difference in gestation (38.9 ± 0.8 weeks vs 39.3 ± 0.9 weeks; P = .05) or birthweight (3.55 ± 0.49 kg vs 3.56 ± 0.41 kg; P = .95). At 1 year of age, the pulmonary artery acceleration time was lower (70 ± 11 vs 79 ± 10; P = .01) in the GDM group. LV global longitudinal strain (24.7 ± 1.9 vs 28.8 ± 1.8 %; P < .01), LV systolic strain rate (1.8 ± 0.2 vs 2.1 ± 0.3 1/s; P < .01), and RV free wall strain (31.1 ± 4.8 vs 34.6 ± 3.9 %; P < .01) were lower in the GDM cohort at 1 year of age (all P values adjusted for gestation, mode of delivery, and maternal body mass index). CONCLUSIONS: Our findings demonstrate higher indices of PVR and lower biventricular function in infants of mothers with GDM compared with controls at each time point assessed in this study over the first year of life.

Reproducibility of the EL-Khuffash PDA severity score and PDA diameter measurements in extremely preterm infants.

BACKGROUND & AIM: Almost all randomised controlled trials use a Patent Ductus Arteriosus (PDA) diameter ≥ 1.5 mm as the primary criterion to ascribe haemodynamic significance to the PDA. The aim of this study was to evaluate if calculation of a PDA Severity Score (PDAsc) possessed superior intra- and inter-rater reproducibility when compared with the measurement of PDA diameter alone. METHODS: This cross-sectional study assessed echocardiograms performed on infants <30 weeks gestation at 36 to 72 h of age between July 2020 and December 2022 to calculate the PDAsc. Intra-observer reproducibility of the PDA diameter and PDAsc were assessed by blinded repeated measurements performed by one investigator (AS) 4 weeks apart. One set of those measurements was compared with blinded measurements by another investigator (RM) to assess inter-rater reliability. RESULTS: Echocardiograms from 150 infants with mean ± SD gestation and birthweights of 26.5 ± 1.7 weeks and 903 ± 249 g respectively were examined. The PDAsc demonstrated near perfect agreement both within raters (Cohen's Kappa 0.97, p < 0.01) and between raters (Cohen's Kappa 0.94, p < 0.01) with regards to the threshold for treatment (a cut off ≥5.0). The PDA diameter threshold only demonstrated moderate agreement within raters (Kappa 0.57, p < 0.01) and between raters (Kappa 0.54, p < 0.01). In this cohort, 31 % of infants with a low risk PDAsc (< 5.0) also had a PDA diameter >1.5 mm. CONCLUSION: Future RCTs for PDA treatment should strongly consider abandoning the use of PDA diameter in isolation as a criterion for recruitment into clinical trials.

Assessment of myocardial function in infants conceived by assisted reproductive technologies using deformation imaging over the first year of age: A cohort study.

BACKGROUND AND AIM: There is emerging evidence of cardiovascular remodeling and functional impairment in individuals conceived via Assisted Reproductive Technologies (ART). The aim of this study was to serially assess myocardial function and pulmonary hemodynamic measurements in infants conceived via ART over the first year of age and to compare them to a cohort of spontaneously conceived controls. METHODS: This was a prospective, observational study. Echocardiography was performed at Day 2, 6 months and 1 year of age. Biventricular function was assessed by deformation analysis. Pulmonary artery acceleration time (PAAT) and left ventricular (LV) eccentricity index (LVEI) provided surrogate measures of pulmonary vascular resistance (PVR). RESULTS: Fifty infants conceived via ART were compared to 50 spontaneously conceived controls. There were no differences in baseline infant demographics between the two groups. At 1 year of age right ventricular (RV) basal and RV mid cavity diameters were higher in the ART group. PAATi was lower and LVEI higher in the ART group at 6 months and 1 year. In the ART group, LV global longitudinal strain, LV systolic strain rate, LV early diastolic strain rate and RV free wall strain were lower on Day 2, 6 months, and 1 year of age in comparison to the control group (all p < .05). Within the ART group, on linear regression, maternal age, the type of ART treatment or egg characteristics did not influence PAAT or deformation measurements. CONCLUSION: Our findings suggest that greater cardiovascular surveillance of ART conceived infants may be warranted.

The use of milrinone in neonates with persistent pulmonary hypertension of the newborn - a randomised controlled trial pilot study (MINT 1).

OBJECTIVE: To assess the impact of milrinone administration on time spent on nitric oxide (iNO) in infants with acute pulmonary hypertension (aPH). We hypothesized that intravenous milrinone used in conjunction with iNO would reduce the time on iNO therapy and the time spent on invasive ventilation in infants ≥34 weeks gestation with a diagnosis of aPH. We aimed to assess the practicality of instituting the protocol and contributing to a sample size calculation for a definitive multicentre study. STUDY DESIGN: This was a multicentre, randomized, double-blind, two arm pilot study, with a balanced (1:1) allocation. Infants with a gestation ≥34 weeks and a birth weight ≥2000 grams aPH, an oxygenation index of ≥10, and commenced on iNO were eligible. Participants on iNO were assigned to either a milrinone infusion (intervention) or a normal saline infusion (placebo) for up to 35 h. The primary outcome was time on iNO and feasibility of conducting the protocol. RESULTS: The trial was terminated early after 4 years of enrollment due to poor recruitment. Four infants were allocated to the intervention arm and 5 to the placebo arm. The groups were well matched for baseline variables. No differences were seen in any of the primary or secondary outcomes. CONCLUSION: Conducting an interventional trial in the setting of acute pulmonary hypertension in infants is not feasible using our current approach. Future studies in this area require alternative trial design to improve recruitment as this topic remains understudied in the neonatal field. TRIAL REGISTRATION: www.isrctn.com ; ISRCTN:12949496; EudraCT Number:2014-002988-16.

The impact of a PDA on tissue oxygenation and haemodynamics following a blood transfusion in preterm infants.

BACKGROUND: To examine the impact of PRBC transfusion on pulmonary vascular resistance (PVR), systemic vascular resistance and myocardial function using echocardiography and cerebral and splanchnic tissue oxygenation using near-infrared spectroscopy (NIRS) in premature babies with and without a PDA. METHODS: A prospective observational study of premature infants born <1500 g in receipt of PRBC transfusions beyond 10 days of age. Echocardiography and NIRS monitoring were performed at baseline, during the transfusion and 24 h after transfusion. RESULTS: Thirty infants with a median gestation of 26.4 [24.8-28.0] weeks were enrolled. Ten infants had a PDA. Following transfusion, a significant decrease in PVR markers occurred in all infants. Right ventricular (RV) function increased following transfusion in the PDA closed group only. Cerebral oxygen saturation increased following transfusion in all infants. Babies in the PDA open group had significantly lower splanchnic oxygen saturations at baseline compared to the PDA closed group which persisted over the study period and were unaltered by transfusion. CONCLUSIONS: PRBC transfusion lowers PVR irrespective of PDA status. Those with a PDA demonstrated a lack of improvement in RV function and splanchnic oxygenation highlighting the impact a PDA has on the neonatal circulation. IMPACT: The presence or absence of the PDA imposes differential effects on splanchnic oxygenation during red blood cell (PRBC) transfusion in the premature population. This is the first study to assess the impact of the PDA on splanchnic oxygenation via near-infrared spectroscopy (NIRS) during red blood cell transfusion in premature neonates. New insights have been found into the impact of PRBC transfusion on pulmonary vascular resistance, right ventricular function, cerebral and splanchnic oxygenation in the presence and absence of a PDA and emphasises the ongoing impact of ductal patency on gut oxygenation.

Addressing obstetricians' awareness of compassion, communication, and self-care when caring for families experiencing stillbirth: Evaluation of a novel educational workshop using applied drama techniques.

INTRODUCTION: Obstetricians describe feeling shocked and isolated following stillbirth. Few receive adequate training in how to care for bereaved parents or themselves. We developed a novel workshop for trainee obstetricians using applied drama techniques-in collaboration with the National Theatre of Ireland, the national training body for obstetricians and gynaecologists, and patient support groups-to teach obstetricians skills in communication and self-care around the time of stillbirth. MATERIALS AND METHODS: Five workshops, delivered January-May 2018, are the focus of this evaluation. Senior trainees in Obstetrics attended and completed a post-workshop evaluation questionnaire. Five-point Likert scales were used to assess participants' communication and support skills pre- and post- the workshop, and their views on pre-specified attributes needed when caring for families experiencing stillbirth and aspects of the workshop. Quantitative and qualitative data were analysed using descriptive statistics and content analysis, respectively. RESULTS: 39/59 (66%) workshop participants completed the questionnaires. Most had received no prior training in caring for families experiencing antenatal (31/39, 80%) or intrapartum (34/39, 87%) stillbirth. Following the workshop there was a significant improvement in trainee's level of confidence in breaking bad news, communicating clearly with the family when breaking bad news, recognising the emotional needs of the family, recognising their own emotional responses, and supporting their colleagues. Trainees were positive about the workshop content and delivery; 90% stated they would recommend it to a colleague. DISCUSSION: Adequate, appropriate, and stimulating education and training in stillbirth care and self-care is clearly needed to improve patient care. Our findings demonstrate that this novel educational workshop using applied drama techniques-developed in collaboration with diverse stakeholders and underpinned by the views of parents and obstetricians who had experience of stillbirth-is an acceptable and appropriate way of training obstetricians in how to care for bereaved parents and/or to engage in self-care.

Serial Assessment of Cardiac Function and Pulmonary Hemodynamics in Infants With Down Syndrome.

BACKGROUND: There is a dearth of longitudinal data describing the evolution of cardiopulmonary hemodynamics in infants with Down syndrome (DS) beyond infancy. We hypothesized that babies with DS, independent of the presence of congenital heart disease (CHD), demonstrate biventricular systolic and diastolic impairment and sustained elevation of pulmonary pressures compared with controls over the first 2 years of age. METHODS: This was a prospective observational cohort study of 70 infants with DS (48 with CHD and 22 without CHD) and 60 controls carried out in 3 tertiary neonatal intensive care units in Dublin, Ireland. Infants with DS with and without CHD and non-DS controls underwent serial echocardiograms at birth, 6 months, 1 year, and 2 years of age to assess biventricular systolic and diastolic function using deformation analysis. Pulmonary vascular resistance was assessed using pulmonary artery acceleration time and left ventricular (LV) eccentricity index. RESULTS: Infants with DS exhibited smaller LV (birth: 27 ± 4 vs 31 ± 2 mm, P < .01; 2 years: 43 ± 5 vs 48 ± 4 mm, P < .01) and right ventricular (birth: 28 ± 3 vs 31 ± 2 mm, P < .01; 2 years: 40 ± 4 vs 44 ± 3 mm, P < .01) lengths and lower LV (birth: -19% ± 3% vs -22% ± 2%, P < .01; 2 years: -24% ± 2% vs -26% ± 2%, P < .01) and right ventricular (birth: -19% ± 4% vs -22% ± 3%, P < .01; 2 years: -29% ± 6% vs -33% ± 4%, P < .01) systolic strain over the 2-year period. Pulmonary artery acceleration time was lower in the DS group throughout the study period (birth: 44 ± 10 vs 62 ± 14 ms, P < .01; 2 years 71 ± 12 vs 83 ± 11 ms, P < .01). No differences were observed between DS infants with and without CHD (all P > .05). CONCLUSIONS: Infants with DS exhibit impaired maturational changes in myocardial function and pulmonary vascular resistance. Such novel findings provide valuable insights into the pathophysiology affecting cardiorespiratory morbidity in this population.

Relationship Between Postnatal Pulmonary Arterial Pressure and Altered Diastolic Function in Neonates with Down Syndrome.

OBJECTIVE: To assess the influence of diastolic dysfunction on the evolution of pulmonary hypertension in neonates with Down Syndrome over the early newborn period. STUDY DESIGN: This was a prospective observational cohort study. Echocardiography was performed three times over the first week of life in both Down syndrome and control cohorts. Measurements of pulmonary arterial pressure in addition to left ventricular (LV) and right ventricular systolic and diastolic function were collected. RESULTS: Seventy babies with Down syndrome and 60 control infants were enrolled. Forty-eight of the infants with Down syndrome (69%) were born with congenital heart disease (CHD). Echocardiography surrogates of pulmonary hypertension and myocardial function remained significantly impaired in the Down syndrome group in comparison with control infants (all P < .01). In the Down syndrome group, LV early diastolic strain rate was independently associated with measures of pulmonary hypertension while controlling for gestational age, cesarean delivery, and the presence of CHD (P < .01). CONCLUSIONS: Intrinsic LV diastolic impairment is directly associated with higher indices of pulmonary hypertension in infants with Down syndrome and may be a contributing factor to its evolution.

Duration of intravenous antibiotic treatment for acute exacerbations of cystic fibrosis: A systematic review.

BACKGROUND: Acute exacerbations of Cystic Fibrosis (AECF) are associated with significant morbidity. Recommendations are to treat for 2-3 weeks despite limited data. Spirometry is a measure of clinical response yet appears to plateau at 7-10 days. While durations <9 days have been associated with poorer outcomes, a duration of 10 days may be as effective as 14 days, potentially conferring advantages in terms of cost and adverse events. A 2019 Cochrane review by Abbott et al. did not identify any randomised controlled trials (RCT) comparing durations of treatment. Utilising data from non-randomised studies (NRS), we report a systematic review of intravenous antibiotic treatment, exploring changes in FEV1 (Forced Expiratory Volume in 1 second), CRP (C-reactive protein) and peripheral WBC (white blood cell) count in studies with different treatment durations. STUDY DESIGN AND METHODS: Systematic review of published literature following a search of MEDLINE, Embase, CINAHL and the Cochrane Clinical Trials register. Guidelines from the Preferred Reporting items for Systematic reviews and Meta-Analysis (PRISMA) and reporting Meta-analysis of Observational studies (MOOSE) statement were followed. RESULTS: No randomised controlled trials were identified that specifically examined duration of treatment during AECF. This study included all relevant RCTs and also NRS, grouping according to study characteristics, such as length of treatment, location, year, and also characteristics of the patient population. 52 studies, comprising 79 subgroups, and 1,597 patients, were identified. Mean change (95%CI) in ppFEV1 was 10.13 (9.21-11.05). There was no significant difference in change in ppFEV1 for studies treating for 10-12 days; 8.85 (7.47-10.23), vs 13-15 days; 10.68 (9.53-11.82). Similar changes in CRP and WBC were seen irrespective of treatment duration. CONCLUSION: This systematic review provides evidence that shorter durations of treatment may be associated with similar changes in FEV1, CRP and WBC compared with longer durations.

Multicentre prospective observational study exploring the predictive value of functional echocardiographic indices for early identification of preterm neonates at risk of developing chronic pulmonary hypertension secondary to chronic neonatal lung disease.

INTRODUCTION: Although chronic pulmonary hypertension (cPH) secondary to chronic neonatal lung disease is associated with increased mortality and respiratory and neurodevelopmental morbidities, late diagnosis (typically ≥36 weeks postmenstrual age, PMA) and the use of qualitative echocardiographic diagnostic criterion (flat interventricular septum in systole) remain significant limitations in clinical care. Our objective in this study is to evaluate the utility of relevant quantitative echocardiographic indices to identify cPH in preterm neonates, early in postnatal course and to develop a diagnostic test based on the best combination of markers. METHODS AND ANALYSIS: In this ongoing international prospective multicentre observational diagnostic accuracy study, we aim to recruit 350 neonates born <27 weeks PMA and/or birth weight <1000 g and perform echocardiograms in the third week of age and at 32 weeks PMA (early diagnostic assessments, EDA) in addition to the standard diagnostic assessment (SDA) for cPH at 36 weeks PMA. Predefined echocardiographic markers under investigation will be measured at each EDA and examined to create a scoring system to identify neonates who subsequently meet the primary outcome of cPH/death at SDA. Diagnostic test characteristics will be defined for each EDA. Pulmonary artery acceleration time and tricuspid annular plane systolic excursion are the primary markers of interest. ETHICS AND DISSEMINATION: Ethics approval has been received by the Mount Sinai Hospital Research Ethics Board (REB) (#16-0111-E), Sunnybrook Health Sciences Centre REB (#228-2016), NHS Health Research Authority (IRAS 266498), University of Iowa Human Subjects Office/Institutional Review Board (201903736), Rotunda Hospital Research and Ethics Committee (REC-2019-008), and UBC Children's and Women's REB (H19-02738), and is under review at Boston Children's Hospital Institutional Review Board. Study results will be disseminated to participating families in lay format, presented to the scientific community at paediatric and critical care conferences and published in relevant peer-reviewed journals. TRAIL REGISTRATION NUMBER: NCT04402645.

Patent ductus arteriosus shunt elimination results in a reduction in adverse outcomes: a post hoc analysis of the PDA RCT cohort.

OBJECTIVE: A post hoc appraisal of the PDA RCT to assess the relationship between early patent ductus arteriosus (PDA) shunt elimination and chronic lung disease or death (CLD/Death). STUDY DESIGN: Infants <29 weeks were divided into four groups: intervention arm in whom PDA closure was achieved (n = 17); intervention arm in whom PDA closure was not achieved (n = 13); placebo arm (n = 30); low risk infants (n = 13). The main outcome measure was CLD/Death. RESULTS: The rates of CLD/Death were lower in the Intervention Success Group (29%) when compared to the Intervention Failure Group (85%) or the Placebo Group (60%, all p < 0.05). There was no difference in CLD/Death between the Intervention Success and Low Risk Groups (8%, p > 0.05). A persistent PDA beyond Day 8 was associated with CLD/Death (aOR 6.5 [1.7-25.5]). CONCLUSIONS: Early shunt elimination in preterm infants with a PDA may reduce respiratory morbidity when compared to infants with prolonged shunt exposure.

Effect of Gestational Diabetes Mellitus on Neonatal Myocardial Function.

BACKGROUND AND AIMS: Infants born to mothers with gestational diabetes mellitus (GDM) have impaired myocardial performance and are at risk of pulmonary hypertension. We aimed to assess myocardial deformation and left ventricular (LV) rotational mechanics in this population. METHODS: We studied 40 infants of mothers with GDM and 40 control infants. Three echocardiograms were carried out over the first 3 days after birth. RESULTS: GDM infants had a lower gestation at birth and a thicker septal wall, a higher LV eccentricity index (indicating septal bowing), and a lower PAATi (indicating higher pulmonary vascular resistance) (all p < 0.05). GDM infants had lower LV strain, systolic and early diastolic strain rates, lower right ventricular (RV) strain, and early diastolic strain rates over the study period (all p < 0.05). By day 3, GDM infants had higher twist, torsion, and higher LV twist and untwist rates (all p < 0.05). GDM status was an independent predictor of LV and RV function and pulmonary vascular resistance (p < 0.01). CONCLUSION: Infants of mothers with GDM demonstrate important changes in myocardial function in addition to pulmonary vascular resistance that do not resolve by hospital discharge. The observed LV twist increase in GDM infants may be a compensatory mechanism for the lower longitudinal function in this cohort.

Comparison of left ventricular rotational mechanics between term and extremely premature infants over the first week of age.

OBJECTIVE: Left ventricle (LV) rotational mechanics is an emerging tool to characterise LV function, but warrants further evaluation in neonates. The aim of this study was to compare LV rotational mechanics between term and extremely preterm babies over the first week of age. METHODS: In this prospective study, we serially assessed LV rotational parameters in 50 term infants and compared them with a historical dataset of 50 preterm infants born <29 weeks gestation. LV basal and apical rotation, LV twist, LV twist/untwist rate and torsion were derived using two-dimensional speckle tracking echocardiography at three time points over the first week of age. RESULTS: There was no change in LV twist, LV torsion, basal rotation or apical rotation in term infants over the study period (all p>0.05). LV twist and torsion were higher in preterm infants, and increased over time. In preterm infants, basal rotation evolved from anticlockwise to clockwise rotation. Apical rotation remained anticlockwise in both groups (all p>0.05). LV twist rate (LVTR) and untwist rate was higher in preterm infants and increased over the three time points (all p>0.05). There was a strong positive correlation between LV torsion and LV untwist rate (LVUTR) in the entire cohort during the third scan. CONCLUSION: Term infants exhibit minimal LV twist which remains unchanged over the first week of age. This is in contrast to premature infants who demonstrate increasing indices of twist, torsion, LVTR and LVUTR over the first week, likely as a compensatory mechanism for reduced LV compliance.

Patent Ductus Arteriosus Clinical Trials: Lessons Learned and Future Directions.

The identification of an optimal management strategy for the patent ductus arteriosus (PDA) in the context of extreme prematurity remains elusive. Observational studies have reported a persistent association between PDA and neonatal adverse outcomes, but by and large, no clinical trial, to date, has demonstrated that treating a PDA results in a reduction of those morbidities. This discrepancy has led many to assume that the PDA is an innocent bystander in the physiological mechanisms responsible for such complications and a reluctance to actively pursue shunt elimination. It would be remiss to discount the volume of evidence available clearly documenting a strong association between longstanding PDA exposure and negative outcomes. There needs to be a radical change in the design, patient selection and possible outcome assessment in any further trials addressing the PDA. The purpose of this review is to explore the reasons that preclude existing clinical trials from definitively ascribing a causal relationship between PDA patency and adverse outcomes in the context of extreme prematurity, why previous studies have failed to demonstrate significant beneficial effects following PDA treatment and how future research may be conducted to allow us to draw concrete conclusions regarding the potential merits of ductal closure.

A Pilot Randomized Controlled Trial of Early Targeted Patent Ductus Arteriosus Treatment Using a Risk Based Severity Score (The PDA RCT).

OBJECTIVES: To evaluate the feasibility of recruiting preterm infants to a randomized controlled trial of patent ductus arteriosus (PDA) treatment based on a PDA severity score (PDAsc) and to characterize challenges in obtaining consent, compliance with the protocol, and PDA closure rates. STUDY DESIGN: This single-center, randomized control pilot study of 60 infants <29 weeks of gestation with a high PDAsc (≥5.0) at 36-48 hours of age receiving either ibuprofen or placebo intravenously. The study protocol did not allow for additional PDA therapy within the first 2 weeks. We reported the rate of consent, open label treatment, and PDA closure rates. The primary outcome was chronic lung disease or death. RESULTS: We approached 83 families for enrollment with 73 (88%) providing consent; 13 infants had a PDAsc of <5; of the remaining infants, 30 were assigned ibuprofen and 30 received placebo. Eight infants received open label treatment in the first 2 weeks (12%). The overall PDA closure rate after treatment was 57% in the intervention group and 17% in the control group (P < .01). There was no difference in the primary clinical outcome (OR, 0.8; 95% CI, 0.3-2.1). CONCLUSIONS: Using a PDAsc for infant recruitment to a PDA treatment randomized controlled trial is feasible. There is a high rate of consent and relatively low rate of open-label PDA treatment. The overall PDA closure rate in the intervention arm was low placing the emphasis on devising more effective PDA closure strategies in future randomized controlled trials. TRIAL REGISTRATION: ISRCTN (13281214) and European Union Drug Regulating Authorities Clinical Trials Database (2015-004526-33).

Defining "Haemodynamic Significance" of the Patent Ductus Arteriosus: Do We Have All the Answers?

Optimum management of the patent ductus arteriosus (PDA) in preterm infants remains one of the most debated topics within the field of neonatology. Despite numerous observational studies and over 60 randomized control trials, consensus on PDA management remains elusive. In order to make meaningful progress on the controversial issue of PDA management, several key factors must be thoroughly addressed; namely (1) accurate identification of infants at greatest risk of long-term morbidities from PDA exposure, (2) acceptance that the PDA is not a dichotomous entity and an individualised approach to its management is required for each neonate, (3) international consensus on what constitutes a haemodynamically significant PDA and (4) the incorporation of multi-organ assessment when evaluating the impact a PDA may pose on overall neonatal physiology. This review assesses the evidence base available supporting various therapeutic strategies for PDA, the deficits in our current knowledge on the definition of haemodynamic significance and future directions to pursue in order to more successfully address this contentious subject.

Pulmonary hypertension and myocardial function in infants and children with Down syndrome.

Down Syndrome (DS) is the most common chromosomal abnormality of live born babies. Individuals with DS are at increased risk of cardiopulmonary morbidities in the early neonatal period, infancy and childhood that manifest with elevated pulmonary arterial pressures and altered myocardial performance. Pulmonary hypertension (PH) during the early neonatal period remains under-recognised in this population. PH may occur with or without a congenital heart defect in children with DS and is more common than in the general population. Early detection and continued screening of PH throughout infancy and childhood for these at-risk children is crucial for prompt intervention and potential prevention of long-term sequelae on cardiac function. This review summarises the main physiological concepts behind the mechanisms of PH in children with DS and provides a summary of the current available literature on PH and its impact on myocardial performance.

Longitudinal assessment of cardiac function in infants with Down's syndrome using novel echocardiography techniques - project protocol.

Background: Down's syndrome (DS) is the most common chromosomal abnormality globally. Ireland has one of the highest rates of DS in the western world with an incidence of 1:444 live births. Congenital heart disease (CHD) and pulmonary hypertension (PH) are the commonest morbidities affecting the cardiovascular system in DS. PH is associated with significant morbidity and an increase risk of mortality. The impact of the diagnosis of DS, the presence of CHD and the associated PH on myocardial function during transition and over the first 2 years of age in this population is not well defined and warrants further study. In particular, serial measurements of pulmonary pressures in this population over the first week of age are lacking. This study aims to characterise myocardial function and pulmonary haemodynamics in infants with Down syndrome during the transitional period (over the first week of age) and throughout the first two years of age. Methods: A prospective, observational study utilising novel echocardiography techniques to assess myocardial function and pulmonary haemodynamics over the first two years of age in infants with Down Syndrome. A population of healthy infants without CHD or a diagnosis of DS will be recruited as controls. This study will be conducted across the three Dublin maternity units. Discussion: In total, 70 babies with DS have been enrolled into this study with 292 echocardiograms performed to date. Further evaluation of cardiac performance in DS infants with and without CHD may yield more insight into the pathophysiology of cardiac dysfunction and pulmonary hypertension that are recognised features in these patients. This could aid in our ability to monitor and treat patients, as well as improve our ability to predict outcomes.