Cardiovascular manifestations of sickle cell disease

Area of Science:

• Cardiology
• Hematology
• Genetics

Background:

• Sickle cell disease (SCD) is a prevalent genetic disorder with increasing patient survival into adulthood.
• Aging SCD populations experience significant morbidity from chronic organ damage, notably affecting the heart and kidneys.
• SCD-associated cardiomyopathy, a form of high-output heart failure, is increasingly recognized as a major cause of mortality and reduced quality of life.

Purpose of the Study:

• To review recent advances in understanding the pathophysiology of SCD-related cardiac manifestations.
• To highlight challenges and propose improved diagnostic strategies for SCD-associated cardiomyopathy.
• To discuss emerging therapeutic perspectives for cardiac complications in sickle cell disease.

Main Methods:

• Literature review of recent advances in SCD pathophysiology and cardiac manifestations.
• Analysis of diagnostic challenges, including atypical echocardiographic findings and limitations of standard heart failure algorithms.
• Exploration of current and novel therapeutic approaches.

Main Results:

• SCD-associated cardiomyopathy is a significant concern in aging patients, often linked to pulmonary hypertension and left heart failure.
• Standard heart failure diagnostic tools are often inadequate for SCD patients due to confounding factors like anemia and unusual cardiac presentations.
• Early identification of myocardial dysfunction through improved phenotyping is essential for timely intervention.

Conclusions:

• SCD-associated cardiomyopathy requires specialized diagnostic approaches beyond standard heart failure protocols.
• Improved phenotyping and earlier diagnosis are critical first steps to enhance prognosis and quality of life for SCD patients.
• Further research into pathophysiology and novel therapies is needed to address cardiac manifestations in sickle cell disease.