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Echocardiographic features of idiopathic hemochromatosis
L J Olson1, W P Baldus, A J Tajik
1Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905.
Insights
Idiopathic hemochromatosis can cause cardiac dysfunction, including chamber dilatation and systolic dysfunction, in a significant portion of patients. Early detection is crucial as survival is poor with severe left ventricular dysfunction.
Area of Science:
- Cardiology
- Hematology
- Genetics
Background:
- Idiopathic hemochromatosis is a genetic disorder characterized by excessive iron absorption and deposition.
- Iron overload can affect multiple organs, including the heart, potentially leading to cardiac dysfunction.
- The specific cardiac manifestations and prognosis in idiopathic hemochromatosis require further characterization.
Purpose of the Study:
- To investigate the prevalence and nature of cardiac involvement in patients with idiopathic hemochromatosis.
- To identify echocardiographic abnormalities associated with cardiac dysfunction in this patient population.
- To assess the relationship between cardiac dysfunction and survival in idiopathic hemochromatosis.
Main Methods:
- Retrospective review of clinical records and 2-dimensional echocardiograms from 24 patients with idiopathic hemochromatosis.
- Exclusion of patients with other known causes of heart disease.
- Classification of patients into groups based on echocardiographic findings (abnormalities vs. normal).
Main Results:
- Of 19 patients without other cardiac disease, 37% (7/19) exhibited echocardiographic abnormalities attributed to idiopathic hemochromatosis.
- Abnormalities included chamber dilatation and global systolic dysfunction; increased wall thickness was not observed.
- Patients with cardiac dysfunction showed abnormal electrocardiograms and cardiomegaly; survival was poor in those with severe left ventricular dysfunction.
Conclusions:
- Cardiac dysfunction is a spectrum in idiopathic hemochromatosis, presenting with normal wall thickness.
- Left ventricular dysfunction in idiopathic hemochromatosis is associated with poor survival, even after phlebotomy.
- Further research is needed to understand the mechanisms and optimize management of cardiac involvement.
Abstract:
To characterize cardiac involvement in idiopathic hemochromatosis, clinical records and 2-dimensional (2-D) echocardiograms of 24 patients with idiopathic hemochromatosis were reviewed. The 17 men and 7 women were 24 to 80 years old (mean 48). Of 19 patients without valvular, ischemic, hypertensive or other known heart disease, 7 (37%) had structural and functional echocardiographic abnormalities attributed to idiopathic hemochromatosis (group 1) and 12 had normal echocardiographic findings (group 2). Age, gender and laboratory markers of iron overload did not differentiate patients with cardiac dysfunction (group 1) from those without cardiac dysfunction (group 2). In group 1, echocardiographic abnormalities included chamber dilatation and global systolic dysfunction. Increased wall thickness was not a feature of idiopathic hemochromatosis. All group 1 patients had abnormal electrocardiographic findings and cardiomegaly on radiography. Despite therapeutic phlebotomy, 4 patients in this group died, between 0.5 and 30 months after echocardiography, because of congestive heart failure. In conclusion, there is a spectrum of cardiac dysfunction in idiopathic hemochromatosis. In patients with idiopathic hemochromatosis and left ventricular dysfunction, absolute wall thickness is normal. Survival is poor in patients with idiopathic hemochromatosis and severe left ventricular dysfunction.