Atteinte cardiaque de l'hémochromatose

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.