Insights into Sickle-cell Disease Cardiomyopathy: Early 3-D Echocardiographic Indicators and Pathophysiological Understanding

Abstract Purpose In sickle cell disease, 3-D transthoracic echocardiography is increasingly essential for early diagnosis and subsequent risk stratification of potential cardiac complications. This topic can be effectively explored by delving deeper into its pathophysiology. Methods With this aim the results of 3-D echocardiography explorations, performed in a cohort of 46 pediatric patients with homozygous or heterozygous sickle-cell disease, were reassessed using a predominant morpho-functional approach. Results Increased end-diastolic volume of the right ventricle appeared as the most obvious early cardiac pathology, promoted by a corresponding pulmonary hypertension and followed by its uncoupling with the pulmonary artery. Over the time, the dysfunction of the right ventricle extends to involve the left ventricle, leading in global heart failure, which can be described as “right ventricle-driven”. Conclusions 3-D trans-thoracic ecocardiography is an essential tool for diagnosis, prognosis and follow-up of sickle cell disease patients. It aids in evaluating the optimal medical treatment and, in the long run, may suggest the possibility of a bone marrow transplant.