Title : Baseline cardiac status in pregnant patients with sickle cell disease
Abstract:
Introduction: Sickle Cell Disease (SCD) is the most common inherited hemoglobinopathy, marked by chronic hemolytic anemia and vaso-occlusion due to a mutation in the β-globin gene. This leads to multi-organ damage and increased risk for cardiopulmonary complications, including pulmonary hypertension (PH), a predictor of mortality in 6–11% of patients.Pregnancy adds physiologic stress, potentially worsening cardiac risks in individuals with SCD. Maternal mortality in pregnant patients with both SCD and PH may reach 60%. Despite this, no formal guidelines recommend baseline cardiac evaluation prior to or during pregnancy.
This study aims to address this gap by evaluating the proportion of pregnant individuals with SCD at a single academic institution who undergo echocardiographic screening either before or during pregnancy. The objectives are to (1) assess the frequency of baseline cardiac assessment, and (2) determine the prevalence of abnormal echocardiographic findings.
Methods: We performed a retrospective cohort study (2018–2023) of pregnant patients with SCD receiving both prenatal and postpartum care. Data collected included patient age, history of acute chest syndrome, and echocardiogram reports. Echocardiograms were categorized by timing—more than one year before conception or within one year before/during pregnancy—and by findings (left heart, right heart, or other abnormalities). Pulmonary artery systolic pressure (PASP) values and diagnoses of PH were recorded when available.
Results: Among the 26 patients with sickle cell disease (SCD), 19 (73%) underwent echocardiography either within one year prior to conception (n = 11) or during pregnancy (n = 8), while 4 (15%) had echocardiograms performed only more than one year before pregnancy, and 3 (12%) had no echocardiographic evaluation. All four patients who had only pre-pregnancy (>1 year) echos demonstrated abnormal findings, with 75% showing left heart abnormalities and 25% showing right heart abnormalities; two of these lacked pulmonary artery systolic pressure (PASP) measurements, while the remaining two had elevated PASP ≥ 20 mmHg. Among the 19 patients who had more recent echos, 5 showed abnormal structural findings, including mitral regurgitation, bi-atrial and bi-ventricular dilation, atrial septal thickening, and other valvular abnormalities. Of those, PASP was not recorded in 8 patients; among the 11 with measurements, 8 (73%) had elevated PASP ≥ 20 mmHg. Only one patient underwent right heart catheterization. Despite structural abnormalities, all patients had preserved ejection fraction (55–65%) and none met criteria for pulmonary hypertension.
Conclusion: Patients with sickle cell disease (SCD) are at increased risk for cardiovascular complications, which may be exacerbated by the heightened physiological demands of pregnancy. In our cohort, cardiac abnormalities, including elevated PASP, were common in pregnant patients with SCD, yet invasive evaluation was rarely performed. While all patients had preserved ejection fraction and no formal PH diagnosis, underuse of right heart catheterization may have contributed to missed diagnoses. These findings suggest that absent or delayed cardiac screening could lead to undetected cardiovascular risks, increasing the potential for adverse pregnancy outcomes. Standardized preconception cardiac evaluation, including echocardiography and further workup for elevated PASP, should be considered to guide risk stratification and improve maternal health in this high-risk population.
