Sickle Cell Disease and the Heart

Abstract

Abstract Purpose The objective of this study was to explore the relationship between cardiac structure, cardiac index (CI), and diastolic function parameters, and laboratory values in patients with Sickle Cell Disease (SCD), and to characterize the distinct SCD cardiomyopathy phenotype Methods We conducted a retrospective review of 202 adult patients with SCD (mean age 41.02 ± 13.36) at our hospital who underwent outpatient echocardiographic screening from 2019–2022. Results Our study identified cardiac hypertrophy, chamber dilatation with preserved ejection fraction, elevated TRV, increased cardiac output, and diastolic dysfunction as defining echocardiographic features in SCD. There was a negative correlation between CI and lateral e’ (R = -0.182, P = 0.012), and a positive correlation between CI and E/e’ (R = 0.274, P = 0.0001). Conclusions Our study identified a unique cardiomyopathy in patients with SCD characterized by cardiac hypertrophy with preserved systolic function, abnormal mitral inflow patterns, and elevated cardiac output. These features are indicative of restrictive physiology, as evidenced by left atrial enlargement and diastolic dysfunction, superimposed on hyperdynamic physiology. Further research is needed to elucidate the pathophysiological mechanisms underlying these observations and determine their prognostic significance in vulnerable populations with an elevated burden of cardiovascular disease, including the risk of sudden cardiac death.