Hemochromatosis echocardiography or ultrasound

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Sunny Kumar MD [3]

On echocardiogram, left ventricular hypertrophy can be seen. On ultrasound the iron deposits in the liver usually do not alter liver echogenicity. If ultrasonographic liver abnormalities are present, they are usually secondary to cirrhosis.

Based on the history, specific tests might be done in order to monitor organ dysfunction, such as an echocardiogram for heart failure.^[1]

• It is used to diagnose the involvement of heart and stage the progress of cardiac function.
• Echocardiography plays a role in the diagnosis and follow up during treatment.
• Findings are non-specific, with a restrictive or dilated cardiomyopathy profile.
• Mild left ventricular dilatation, normal or mildly increased wall thickness, biatrial enlargement. Right ventricular involvement with normal size and increased wall thickness.
• Left ventricular diastolic function – precedes systolic dysfunction. The degree of impairment correlates with the severity of iron overload, with a restrictive filling pattern in advanced stages Palka et al.^[2]
• Left ventricular systolic function – usually preserved in early stages, with regional and global dysfunction in later stages, when iron overload reaches a critical level.
• Tissue doppler imaging for subclinical myocardial involvement – studies have shown reduced longitudinal systolic and early diastolic velocities to be early signs of disease. In addition, a reduced increase of basal septal systolic velocities during exercise was found when compared to normal.^[3]
• Left atrial contractile function, particularly active emptying fraction, was studied as a very early echocardiographic sign of abnormal diastolic function in asymptomatic patients.^[4]
• Increased pulmonary pressures at rest and during exercise due to elevated left ventricular filling pressures.
• Iron overload cardiomyopathy:
  • Hereditary (primary) hemochromatosis, an autosomal recessive disorder characterized by gene mutations involving iron metabolism, leading to increase iron uptake in the gastrointestinal tract.
  • Transfusional hemochromatosis secondary to chronic blood transfusions in patients with ineffective erythropoiesis (increased catabolism) as found in thalassemia or sickle cell anemia.

On ultrasound the iron deposits in the liver usually do not alter liver echogenicity. If ultrasonographic liver abnormalities are present, they are usually secondary to cirrhosis.

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