Cardiovascular manifestations of Erdheim–Chester disease: A narrative review with two cases

Abstract

Erdheim–Chester disease (ECD) is a rare ‘L’ (Langerhans) group histiocytic neoplasm that affects a multitude of organ systems, causing osteosclerotic bone lesions, periaortic encasement (‘coated’ aorta), retroperitoneal fibrosis involving kidneys and ureters (‘hairy kidney’), and infiltration of the central nervous system. Cardiovascular involvement can occur in up to 70% of patients and is usually found during computed tomography/magnetic resonance imaging evaluation. When present, cardiovascular symptoms can have wide variability in presentation from asymptomatic to pericarditis, fatal cardiac tamponade, myocardial infarction, conduction abnormalities, heart failure, renal artery stenosis, and claudication. Cardiac involvement found on imaging includes right atrial pseudotumor, right atrioventricular groove infiltration, and pericardial effusions. ECD can involve the large- and medium-sized arteries, often seen as periarterial thickening (commonly coating the aorta) with stenosis/occlusion. Although more cardiovascular ECD cases have begun to be published in the literature, more data are needed on the outcomes of these patients, as well as how cardiovascular manifestations respond to treatment of ECD.

The Spectrum of Cardiac Involvement in Erdheim-Chester Disease is Broader than Previously Thought

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We read with interest the article by Wong et al about two patients with Erdheim-Chester disease (ECD) with cardiovascular involvement presenting as encased aorta and its branches, coronary arteries, pulmonary arteries, and both atria (patient-1, 24yo female) as well as left renal artery stenosis, inferior and superior mesenteric artery stenosis, and stenosis of the celiac trunk (patient-2, 68yo male) [1] . Patient-1 was diagnosed with ECD based on histiocytes positive for CD68, CD163, and S100, and presence of a MAP2K1 mutation [1] . Patient-2 was diagnosed with ECD due to stenosis of the superior and inferior mesenteric arteries, coeliac trunk, left renal artery, occlusion of the right renal artery, hairy kidneys, and retroperitoneal fibrosis [1] .

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“…Patient-1 was diagnosed with ECD based on histiocytes positive for CD68, CD163, and S100, and presence of a MAP2K1 mutation [1] . Patient-2 was diagnosed with ECD due to stenosis of the superior and inferior mesenteric arteries, coeliac trunk, left renal artery, occlusion of the right renal artery, hairy kidneys, and retroperitoneal fibrosis [1] . The study is impressive, but some points require further discussion.…”

“…The study is impressive, but some points require further discussion. The first point is that the list of cardiac manifestations of ECD is incomplete and not only includes pericardial thickening, myocardial thickening, atrial pseudotumor, infiltration of the atrio-ventricular groove, atrial pseudotumor, coronary artery stenosis or occlusion which manifest with angina chest pain or myocardial infarction, vena cava infiltration, and supraventricular or ventricular arrhythmias [1] . One of the cardiac manifestations not taken into account is myocarditis.…”

“…A second point is that the diagnosis of ECD in patient-2 is not certain. The patient had stenosis of the right renal artery, the superior and inferior mesenteric artery, and celiac trunk, occlusion of the left renal artery, and soft tissue around both kidneys, renal sinuses, and the uretero-pelvic junction [1] . However, histological examination did not show foamy CD68, C163m or S100 positive histiocytes and the patient was not examined for BRAF, KRAS, NRAS, PIK3CA, or MAP2K1 mutations [6] .…”

“…This should be corrected. A fourth point is that "pericardial window" is the same as a "pleuro-pericardial" window [1] . There is no need to distinguish the two.…”