Related Experiment Video
Updated: Jul 14, 2026

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
Published on: January 31, 2022
[Cardiac involvement in hemochromatosis]
Sandra Janower1, Olivier Rosmorduc, Ariel Cohen
1Service de cardiologie, Hôpital Saint-Antoine, AP-HP, et Université Pierre et Marie Curie, Paris VI.
Insights
Hemochromatosis can cause heart failure due to iron overload in the heart muscle. Early diagnosis and iron depletion treatments like phlebotomy improve survival by reducing organ damage.
Area of Science:
- Cardiology
- Genetics
- Hematology
Background:
- Hemochromatosis is a genetic disorder characterized by excessive iron absorption and storage.
- Cardiac involvement, primarily affecting the myocardium, is a significant complication leading to heart failure.
- Iron overload in myocytes reduces left ventricular distensibility, a key factor in cardiac dysfunction.
Purpose of the Study:
- To summarize the cardiac manifestations of hemochromatosis.
- To outline diagnostic approaches for cardiac involvement.
- To discuss current treatment strategies and their impact on prognosis.
Main Methods:
- Diagnosis relies on Doppler echocardiography to assess left ventricular filling and function.
- Magnetic resonance imaging (MRI) quantifies intrahepatic and intramyocardial iron levels.
- Genetic analysis helps determine mutation type, influencing symptom onset and organ involvement.
Main Results:
- Heart failure is the most common cardiac manifestation.
- Echocardiography reveals abnormal left ventricular filling and systolic dysfunction.
- MRI provides accurate quantification of iron burden in the liver and heart.
Conclusions:
- Early diagnosis and iron depletion (phlebotomy for primary, chelation for secondary hemochromatosis) are crucial for improving survival.
- Management strategies guided by recent guidelines help identify risks, stage disease, and tailor treatment.
- Reducing organ iron overload, particularly in the liver and myocardium, enhances patient outcomes.
Abstract:
Cardiac involvement in hemochromatosis affects mainly the myocardium: iron overload of the myocytes reduces left ventricular distensibility. Heart failure is the most frequent manifestation of cardiac involvement. Diagnosis of cardiac involvement depends essentially on Doppler echocardiography showing abnormal left ventricular filling and, later, ventricular dilatation with left ventricular systolic dysfunction. Magnetic resonance imaging can quantify intrahepatic and intramyocardial iron levels. Age at onset of symptoms and specific organ involvement in hemochromatosis depend on the type of mutation. The two principal means of treatment by iron depletion are phlebotomy in primary hemochromatosis and excretion of iron by chemical chelation in secondary hemochromatosis. Early diagnosis and iron depletion improve survival by reducing organ iron overload, especially in the liver and the myocardium. Recent guidelines issued by Anaes (national agency for health evaluation) make it possible to identify risk factors for complications early, to determine disease stage, and to provide appropriate management as a function of disease severity.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Cardiomyopathy IV: Restrictive Cardiomyopathy
Myocarditis I: Introduction
Cardiomyopathy II: Dilated Cardiomyopathy
Imbalances in Cardiac Output
CHF can occur due to the failure of either side of the heart. Left-side failure leads to pulmonary congestion—the right side continues to send blood...
Cardiomyopathy V: Interprofessional Care
