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Case Reports
. 2022 Jul 26;2022(7):omac071.
doi: 10.1093/omcr/omac071. eCollection 2022 Jul.

Cardiac electrical instability in Erdheim-Chester disease: a case report

Andrea Urbani  1 , Filippo Pensotti  1 , Diego Castini  1 , Silvia Magnani  1 , Pasquale Simone Simeoli  1 , Corrado Campochiaro  2 , Lorenzo Dagna  2 , Alberto M Cappelletti  3 , Carlo Sponzilli  1 , Marco Guazzi  1
Affiliations
Case Reports

Cardiac electrical instability in Erdheim-Chester disease: a case report

Andrea Urbani et al. Oxf Med Case Reports. .

Abstract

Erdheim-Chester disease (ECD) is a rare multisystemic disorder of non-Langerhans histiocytic cells with a pleomorphic clinical presentation. It affects bones, skin, central nervous system, pituitary gland, ocular tissue, kidneys and perirenal tissue and lungs. Cardiac involvement presents usually with pericardial effusion and right atrial masses, but rarely with conduction system infiltration and subsequent arrhythmic events. Following the discovery of mutations of activating signaling kinase proteins (BRAF, MEK, ALK), the therapeutic landscape has changed to a more precise targeted treatment. Currently vemurafenib is approved for patient with end-organ dysfunction and BRAF-V600E mutation and the prognosis has dramatically improved. Here we present a case of ECD with electrical instability as main clinically relevant manifestation of cardiac involvement.

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Figures

Figure 1
Figure 1
Transthoracic echocardiography. Apical four chambers view, large amount of pericardial effusion (white arrow) and thickening of right atrial free wall (white star, 1.65 cm of diameter) and interatrial septum.
Figure 2
Figure 2
Transthoracic echocardiography. Parasternal short axis view, large circumferential pericardial effusion (white arrow) and pleural effusion flap (white dot).
Figure 3
Figure 3
Axial abdomen computed tomography-scan image showing bilateral hydronephrosis and bilateral infiltration of perirenal tissue (white arrows).
Figure 4
Figure 4
Polymorphic ventricular tachycardia with Torsade-de-Pointes features.
Figure 5
Figure 5
Brain-MRI scan. Axial T2-weighted FLAIR sequences reveal an irregular soft tissue intensity of the infundibulum of the pituitary gland (white arrow)
Figure 6
Figure 6
(A) 18-FDG PET/CT image showing increased fluorodeoxyglucose circumferential uptake of the ascending aorta (white arrow). (B) 18-FDG PET/CT image showing increased fluorodeoxyglucose uptake of the right atrium (white arrow).
Figure 7
Figure 7
(A) 18-FDG PET/CT image showing increased fluorodeoxyglucose uptake of the proximal tibia. (B) 18-FDG PET/CT image showing increased fluorodeoxyglucose uptake of the sella turcica.
See this image and copyright information in PMC

References

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