Early detection of cardiac involvement in thalassemia: From bench to bedside perspective

Area of Science:

• Cardiology
• Hematology
• Medical Imaging

Background:

• Myocardial siderosis is a primary cause of death in thalassemia major (TM) patients, leading to iron overload cardiomyopathy.
• Despite chelation therapy, high mortality persists due to delayed detection of cardiac iron overload.
• Current iron assessment methods have limitations and controversial evidence in clinical practice.

Purpose of the Study:

• To comprehensively review and present all proposed methods for assessing cardiac iron status in TM patients.
• To discuss the efficacy and limitations of various direct and indirect iron assessment techniques.
• To highlight cardiac magnetic resonance imaging and heart rate variability for early detection.

Main Methods:

• Systematic review of basic and clinical studies on cardiac iron assessment in TM.
• Analysis of direct and indirect iron assessment methods: serum ferritin, echocardiogram, non-transferrin-bound iron, cardiac MRI T2*, heart rate variability, biopsies.
• Focused discussion on cardiac MRI and heart rate variability for early detection.

Main Results:

• Various methods exist for assessing cardiac iron overload, but clinical application is limited by controversy and evidence gaps.
• Cardiac magnetic resonance imaging (cardiac MRI) and heart rate variability (HRV) show promise for early detection of cardiac involvement.
• The review synthesizes existing data on these methods, addressing controversies in cardiac assessment for TM.

Conclusions:

• Early and accurate detection of cardiac iron overload is critical for improving survival in TM patients.
• Cardiac MRI and heart rate variability are emerging as valuable tools for the early diagnosis of cardiac complications in TM.
• Further research and standardization are needed to address controversies and optimize clinical use of these assessment methods.