Characterizing left ventricular systolic dysfunction in sickle cell disease: three contrasting case reports

Background: Left ventricular systolic dysfunction (LVSD) is an uncommon but life-threatening complication of sickle cell disease (SCD), with poorly characterized aetiology. We present three SCD patients with LVSD due to different underlying mechanisms.

Case summary: The first case describes rapid deterioration in LV function secondary to severe cardiac iron overload in a 37-year-old female with poor chelation compliance after 10 years of top-up transfusions for SCD. The second case is a severe non-ischaemic dilated cardiomyopathy (DCM) in a 42-year-old SCD patient with longstanding sickle nephropathy and hypertension. The final case demonstrates severe LVSD with large transmural infarcts (ischaemic DCM) in the absence of epicardial coronary disease in a 52-year-old SCD patient.

Discussion: This case series presents the first attempt to characterize the aetiology of LVSD in SCD. We identified three phenotypes: iron-overload cardiomyopathy, non-ischaemic DCM, and ischaemic DCM. These contrasting cases highlight the significance of understanding the underlying pathology in determining individualized treatment plans for these high-risk patients. We discuss the role of cardiac MRI (CMR) in characterizing LV dysfunction, and we believe that this case series will form the basis of prospective studies to further delineate the pathophysiology of LVSD in SCD.