Cardiovascular phenotypes predict clinical outcomes in sickle cell disease: An echocardiography-based cluster...

Area of Science:

• Cardiology
• Hematology
• Medical Imaging

Background:

• Sickle Cell Disease (SCD) is a genetic blood disorder associated with significant cardiac complications.
• Cardiac involvement in SCD can manifest through various phenotypes, impacting patient prognosis.
• Understanding these cardiac phenotypes is crucial for risk stratification and management.

Purpose of the Study:

• To identify distinct cardiac phenotypes in homozygous SCD patients using cluster analysis of echocardiographic data.
• To correlate these identified cardiac phenotypes with clinical profiles and patient outcomes.
• To determine the prognostic value of different cardiac phenotypes in SCD.

Main Methods:

• Analysis of echocardiographic data from 379 homozygous SCD patients in the French Etendard Cohort.
• Application of cluster analysis to echocardiographic variables to identify patient groups.
• Assessment of associations between identified clusters, clinical characteristics, and patient outcomes, including mortality.

Main Results:

• Three distinct clusters of cardiac phenotypes were identified.
• Cluster 1: Low cardiac output, mild remodeling, higher TRV, predominantly female, severe functional limitation.
• Cluster 2: High cardiac output, significant remodeling, severe anemia, higher mortality (19%).
• Cluster 3: Mild remodeling, normal diastolic function, lowest TRV, younger, better prognosis (5% mortality).
• Pulmonary hypertension (PH) was associated with Cluster 1 (pre-capillary) and Cluster 2 (post-capillary).

Conclusions:

• Echocardiography-based cluster analysis effectively identifies three distinct hemodynamic and clinical phenotypes in SCD patients.
• These phenotypes are associated with specific clinical profiles, including pulmonary hypertension.
• The identified cardiac phenotypes demonstrate significant differences in long-term prognosis and mortality risk among SCD patients.