Cardiac MRI Imaging Features of Erdheim–Chester Disease: A Case Review

Abstract

Erdheim–Chester disease (ECD) is a disease of non-Langerhans cell histiocyte multisystemic proliferation. The pathogenesis is related to accumulation of histiocytes across the body, leading to multiple organ failure, and thus necessitating an early diagnosis. In all ECD cases, BRAF and RAS mutations are critical. Clinical manifestations affect individuals between the fourth and seventh decades of life. The most common symptoms reported are central nervous system involvement with functional disability, and bone pain with osteosclerosis of long bones. Other reported symptoms are skin involvement with xanthelasma, diabetes insipidus, cardiovascular involvement with pericardial effusion and tamponade, perivascular thickening, and right atrial and atrioventricular grove infiltration, leading to heart failure. Females may develop galactorrhoea due to deposition in the pituitary gland, with or without menstrual irregularities. Only few publications address the cardiac MRI findings of ECD. The authors present a case of cardiac involvement of ECD and associated cardiac MRI findings. The patient presented with multisystemic disease with bone pain, diplopia, cardiac arrythmia, and dyspnoea.