Introduction:
Edheim Chester Disease (ECD) is a rare disease of the non-Langerhans
histiocytosis category involving organs such as the long bones, Central
nervous system (CNS), skin, kidney, heart, arteries, and
endocrinopathies.(1, 2) The disease is usually more common in the 50-60
years and men. Mutations that disrupt the cellular RAS-RAF-MEK-ERK
signaling pathway play an essential role in the pathology of this
disease.(3) Also, those diagnosed with the BRAF VR600E- mutation have
more cardiac and CNS involvement.(4) Cardiac involvement in these
patients can be seen as pseudo-tumor infiltrates of the right atrium
(RA) in 36% of patients.(3)
Diagnosis of the disease is based on histo-pathological, medical, and
radiological findings, among which MRI is a key part of diagnosing the
condition. (7, 8)
In this clinical case, we present a challenging scenario involving a
42-year-old male patient who presented with shortness of breath and
skeletal pain, in which a multi-disciplinary approach plan led to the
diagnosis of ECD..