Cardiac magnetic resonance characterization of atrial pseudo-mass in Erdheim-Chester disease

AbstractA 43 year old male was referred to our center for assessment of the cardiac involvement in Erdheim-Chester disease (EHD) by cardiac magnetic resonance (CMR). The patient presented with a history of bone involvement as well as retroperitoneal mass, demonstrated to consist fibrosis as well as histiocyte infiltration.The CMR examination included cine (SSFP – steady state free procession), T1 weighted (T1w) and T2 weighted (T2w) sequences, as well as late enhancement images 10 minutes after gadolinium based contrast injection (0.2 mmol/kg). The acquired images showed normal dimensions and function for both right and left cardiac chambers. However, a cardiac mass was revealed in the free wall of the right atrium and the junction with the right ventricle, with clear borders and a diameter of 2.5 cm (Image 1). The tissue was best viewed on axial sequences and was isointense on cine, T1w and T2w images and was mildly enhanced on LGE images. Consequently, the diagnosis of cardiac involvement in EHD was confirmed. The patient was started on specific treatment for EHD and 3-year CMR follow-up showed regression of cardiac involvement.Erdheim-Chester disease is a rare disorder most frequently characterized by non-Langerhans histiocytic multifocal osteosclerotic lesions, with multisystemic granulomatosis and widespread manifestations, as well as highly variable severity(1). ECD affects the cardiovascular system in 75% of patients with infiltration of the pericardium and the right atrioventricular septum being the most common presentation. Typically the mass appears isointense on T1 and T2 weighted images and has low contrast enhancement, as was the case in our patient. In approximately 60% of cases death occurs because of cardiac complications, like pericardial tamponade, myocardial infarction, cardiomyopathy or arrhythmias(2). Patients may sometimes be successfully treated with biologic therapy, interferon alpha or radiotherapy.

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Twelve Years of Follow-Up With Serial Cardiac Magnetic Resonance Scans in Erdheim-Chester Disease With Cardiovascular Involvement

Circulation Cardiovascular Imaging ◽

10.1161/circimaging.118.008808 ◽

2019 ◽

Vol 12 (3) ◽

Author(s):

Chrysanthos Grigoratos ◽

Antonio De Luca ◽

Nicola Martini ◽

Giovanni Donato Aquaro

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Erdheim Chester Disease ◽

Cardiovascular Involvement ◽

Erdheim Chester ◽

Chester Disease

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Headache, Radicular Pain, and Enhancing Lesions

10.1093/med/9780197583425.003.0073 ◽

2021 ◽

pp. 225-227

Author(s):

W. Oliver Tobin

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Sequence Variation ◽

Radicular Pain ◽

Resonance Imaging ◽

Pathologic Evaluation ◽

Erdheim Chester Disease ◽

Cerebellar Tissue ◽

Erdheim Chester ◽

Chester Disease

A 37-year-old right-handed woman sought care for a dull headache present for 6 months, which was followed by the development of radicular pain in the left leg radiating down the back of her leg into her foot, with associated left foot numbness. Magnetic resonance imaging of the lumbar spine showed an enhancing lesion within the conus. She was referred for neurosurgical evaluation and underwent magnetic resonance imaging of the entire neuraxis, which showed an enhancing lesion in the left cerebellum. She underwent a left cerebellar debulking surgical procedure. Postoperative diplopia developed for approximately 1 month and then subsequently resolved. She walked with a walker after surgery, with progressive deterioration in gait. Two months after surgery a postural tremor developed in the left arm and leg. She was referred for neurologic evaluation. Pathologic evaluation of cerebellar tissue showed foamy histiocytes and xanthomatous cells that stained positive for CD68 (KP1). Staining for CD1a was negative. Tissue immunohistochemistry for the BRAF V600E sequence variation was negative. No hyponatremia was detected. Positron emission tomography/computed tomography of the body from vertex to toes indicated hypermetabolism in the distal femur and proximal tibia. Examination and imaging findings were consistent with a diagnosis of multifocal Erdheim-Chester disease. The patient was initially treated with pegylated interferon, with clinical and radiographic progression. She was subsequently treated with vemurafenib and dexamethasone, with continued radiologic progression. Treatment with radiotherapy and cladribine were also unsuccessful. At that point, next-generation sequencing of cerebellar tissue showed a BRAF V471F sequence variation. She was then treated with trametinib, which resulted in a decrease in size of the cerebellar lesion and growth stabilization of the conus lesion. Histiocytic neoplasms are a heterogeneous group of multisystem disorders, primarily including Erdheim-Chester disease, Langerhans cell histiocytosis, and Rosai-Dorfman disease. Although initially thought to represent inflammatory processes, recent insights into their genomic architecture have shown that they are derived from macrophage-lineage neoplasms.

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