Abstract
CONTEXT Cardiac mortality is reported to be the 4th leading cause of death in French children with sickle cell disease (SCD) with acute chest syndrome (ACS) as the main etiology. However, early diastolic cardiac involvement may be underdiagnosed in these young patients and whether episodes of ACS affect pulmonary artery pressure and cardiac remodeling is not yet well assessed. The aim of our study is to investigate the impact of episodes of ACS on the cardiac remodeling and occurrence of pulmonary hypertension in children and young adults with SCD.
METHODS We conducted a retrospective longitudinal multicenter study to include 400 children and young adults with SCD aged under 25 years from 9 French referral centers between 2000 and 2025. Death cases were collected by data health hospitals records. Primary outcome measure was pulmonary artery pressure assessed by non-invasive echocardiographic techniques. Secondary outcomes were assessment of occurrence of cardiac complications over time using Kaplan-Meier survival analysis and correlation between the frequency of ACS episodes and the evolution of TRV (> 2.5m/sec) and lateral e' (< 11 cm/sec). This study was approved by the local ethics committee (HUPSSD CLEA- 2025-466).
RESULTS Our preliminary results reported 52 individuals with SCD (34 children and 18 adults aged under 25) enrolled from 2 referral centers. Clinical, biological characteristics and echocardiographic parameters are detailed in Table 1. Mean age was 17.1 (+/- 3.2) years. Sex ratio was 0.5 and 64% (n=32) of the patients were genotype S/S. Death occurred in 7 individuals (3 children under 5 years, 3 teenagers and 1 young adult under 25 years) and cardiac mortality was reported in 4 cases (3 ACS and one case of pulmonary hypertension in a teenager aged 15). Patients with ACS ( ≥ 1 episode, n=22) did not reveal early diastolic dysfunction in comparison with patients with no ACS (n=30), as reported in Table 2. None of the children had a TRV above 2.5 m/sec (vs 3 young adults) and none of the 52 individuals enrolled had an e' lateral below 11 cm/sec.
CONCLUSION Predictive factors of cardiac mortality in children and young adults with SCD need to be further investigated by large prospective studies with a stratification of individual risk. These findings will support implementation of risk-stratified interventions and adapted therapeutic strategies to prevent occurrence of deaths in sickle cell population.
