THE HEART IN HAeMOCHROMATOSIS

Abstract

The purpose of this paper is to give a brief account of present-day knowledge of the effects of haemochromatosis upon the heart after which we shall describe two cases of the disease in which cardiac involvement was a prominent feature stimulating our interest in this subject. The involvement of the heart in hkmochromatosis is well known. Infiltration of hemosiderin varies from wedge-shaped deposits at the nuclear poles of the muscle fibres to the extreme degree in which the fibres may be replaced by a mass of pigment granules contained within the muscle sheath. HLmosiderin may also be found in the connective tissue, lying free in the lymph spaces, or within fibroblasts and mononuclear cells. An increase of fibrous tissue has been considered to be rare. Hmmofuscin is also found in the muscle fibres arranged in the same way as hlmosiderin (Sheldon, 1935). In his review of 311 cases of haemochromatosis Sheldon states that myocardial failure is uncommon and he places it as the cause of death in a miscellaneous group (15 per cent of 119 cases in which the cause of death was evident) which includes various intercurrent conditions. Within the past seventeen years a number of reports have appeared of cases of himochromatosis in which cardiac symptoms followed by death in congestive heart failure have occurred. We have selected ten reports comprising fourteen cases which are arranged in Table I. It is a pity that the pathological data are often very meagre. Significant coronary sclerosis or valvular lesions were not described except in the case of Blumer and Nesbit (1938) in which there was a moderate degree of coronary atheroma. Cardiac enlargement was noted in eleven cases, in four on clinical grounds only and in the remainder on radiography or necropsy or both. Electrocardiographic findings are given for twelve cases. Four were normal, one after having shown T wave changes. Three showed low voltage; seven showed T wave changes other than in lead III; there were three examples of auricular fibrillation and one of auricular flutter; there was one paroxysm of supraventricular tachycardia. There were two cases of complete heart block and one of prolonged P-R interval. Substernal pain is mentioned in five cases. In two it was severe and in one it was often related to exertion. In one case, pain over a period of three weeks occurred three years before his death in heart failure. Necropsy in two instances showed myocardial fibrosis but there was coronary disease in only one (Blumer and Nesbit, 1938) and it was not severe. No myocardial infarction was found in any case. Congestive heart failure closed the illness in all the fatal cases. On the subject of the heart in hlmochromatosis, there have been a number of reports by French authors who have striven to invoke an endocrine origin for the observed heart failure without satisfying the reader or, apparently, themselves. The clinical reports describe cases that are comparable with the present series and doubtless represent the same disease process (de Gennes et al., 1936; Ouma...

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The Cardiomyopathies : A Report of Fifty Cases

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Hæmochromatosis With Heart Failure Complicating Congenital Non‐spherocytic Hæmolytic Anæmia

“…In the absence of all other provocative causes (rheumatic heart disease, coronary heart disease, severe ancemia), congestive heart failure was attributable to myocardial insufficiency due to extensive siderosis; there was histological evidence that stainable iron had caused focal muscle degeneration and interstitial fibrosis. There is an extensive literature on cardiac involvement in hcemochromatosis (Blumer and Nesbit, 1938;Petit, 1945;Tucker et alii, 1948) which has been reviewed by Swan and Dewar (1952). Arrythmias and conduction defects are common electrocardiographic findings.…”