ABC | Volume 111, Nº6, December 2018

Brief Communication Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series Isabela Bispo Santos da Silva Costa, 1 André Neder Ramires Abdo, 1 Cristina Salvadori Bittar, 1 Silvia Moulin Ribeiro Fonseca, 1 Aline Sabrina Holanda Teixeira Moraes, 1 Roberto Kalil Filho, 2 Juliana Pereira, 1 Ludhmila Abrahão Hajjar 1,2 Instituto do Câncer do Estado de São Paulo, 1 São Paulo, SP - Brazil Instituto do Coração (InCor) - Faculdade de Medicina da Universidade de São Paulo, 2 São Paulo, SP - Brazil Keywords Erdheim-Chester Disease/diagnosis; Erdheim-Chester Disease/drug therapy; Erdheim-Chester Disease/pathology; Biopsy; Prognosis. Mailing Address: Isabela Bispo Santos da Silva Costa • Avenida Conselheiro Rodrigues Alves, 391 ap 41. Postal Code 04014-011, Vila Mariana, SP – Brazil E-mail: isabelabispo@yahoo.com.br , isabela.bispo@hc.fm.usp.br Manuscript received April 14, 2018, revised manuscript July 17, 2018, accepted July 23, 2018 DOI: 10.5935/abc.20180218 Abstract Erdheim-Chester Disease is a rare entity, classified as an inflammatory myeloid neoplasm, with an unknown incidence, occurring preferentially in men after 50 years of age. Classically, it has a multisystemic presentation, with the skeletal system being the most frequently affected (90% of the patients), followed by genitourinary involvement in 60% of cases and central nervous system in the pituitary and diabetes insipidus in 25% of the cases. Cardiovascular manifestations are present in more than half of the patients, with aortic infiltration and atrial pseudotumor being the most common forms. Introduction Erdheim-Chester disease (ECD), described by William Chester in 1930, is a histiocytic disorder classified as a member of the L Group, together with Langerhans cell histiocytosis. It is commonly characterized by multifocal osteosclerotic lesions in long bones that shows layers of foamy histiocytes at the histological analysis, accompanied or not by histiocytic infiltration of extra-skeletal tissues. 1 Its pathophysiology involves the accumulation of xanthoma-like clonal histiocytes (CD68+) in the affected organs. Immune system hyperstimulation by histiocytes causes extensive local and systemic inflammatory reaction 2 resulting from senescence induction during the oncogenesis process, via hyperactivation of the Ras-Raf-MEK-ERK intracellular signaling pathway. The presence of the BRAF V600E gene mutation is present in up to 2/3 of the patients. 3 Most patients with ECD are diagnosed between the ages of 40 and 70 years, with a slight predominance of males. 4 In addition to the long bones, the central nervous system (CNS), cardiovascular system, lung, pancreas, breast, and testicles can also be affected.¹ The cardiovascular involvement occurs in different ways, with periaortic fibrosis being the most common manifestation, with a tomographic finding typically described as a “coated aorta”, which is asymptomatic in most patients. 5 The presence of cardiovascular system impairment is associated with a worse prognosis, 6 and its identification is of the utmost importance for the adequate management of these patients. Since the disease has a systemic involvement, it is recommended that all patients be investigated with: 18-Fluorodeoxyglucose positron emission tomography – computed tomography (18-FDG PET-CT), brain magnetic resonance imaging with contrast and detailed examination of the sella turcica and cardiac magnetic resonance (CMR) imaging. 6 When the CMR is unavailable or contraindicated, a transthoracic echocardiogram (TTE) is performed. Vascular involvement can be assessed through a complementary test to 18-FDG PET-CT with total aorta angiotomography. Case reports Eleven patients with a diagnosis of ECD are followed at our Service. Of these, 4 (36.4%) have cardiovascular disease attributed to the underlying disease; 2 (18.2%) are males, with a mean age of 57 years (38-64 years); 2 (18.2%) patients have cardiovascular manifestation in the form of atrial involvement and aortic involvement; 1 (9.1%) has heart failure with a left ventricular ejection fraction (LVEF) of 40% and 1 (9.1%) has isolated thoracic and abdominal aortic involvement. Case 1 A 63-year-old male, diabetic and former smoker patient was referred to the cardiology service one year after the TTE showed an echogenic image suggestive of a mass in the right atrium (RA) measuring 2.5 x 1.3 cm in its largest axis, and increased thickness and density of the atrial septum, suggestive of lipomatous infiltration. Additionally, he had a slight aortic root dilatation, ascending aorta (3.9 cm in diameter) and signs of atherosclerotic plaque in the aortic arch. The complementary CMR showed a solid image in the septal region of the RA, projecting into the mediastinum in the retroaortic position and another image in the region of the RA roof measuring 1.5 x 1.3 cm, adhered to the interatrial septum, with the presence of perfusion and heterogeneous enhancement suggestive of lymphoma. The lesion biopsy was carried out; however, the diagnosis was inconclusive. He was referred to the hematology service, where he underwent 18-FDG PET-CT, which identified bone, CNS and skin involvement compatible with ECD. The 18-FDG PET-CT showed a moderate / marked uptake in the RA walls, in topography coincident with CMR alterations, were located on the RA roof (maximum standardized uptake value – SUV max : 6.28) and in the interatrial septal region (SUV max : 5.65) (Figure 1). 852