MRI evidence of cardiovascular involvement in Erdheim-Chester disease
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1 MRI evidence of cardiovascular involvement in Erdheim-Chester disease Davide Gianfreda, Alessandro A. Palumbo, Enrica Rossi, Lorenzo Buttarelli, Gaia Manari, Chiara Martini, Massimo de Filippo and Augusto Vaglio Nephrology Unit and Radiology Unit, University Hospital of Parma, ITALY
2 Background Cardiovascular (CV) involvement occurs in 40-60% of patients with Erdheim-Chester disease (ECD). Cardiac lesions include atrial infiltration, pericardial thickening+effusion, and coronary artery infiltration Large-vessel involvement consists of vascular wall thickening/perivascular sheathing and involves the aorta and the epiaortic artery origin Patients with CV involvement are thought to have a poorer prognosis and are therefore treated more aggressively. Whether the adverse outcome is due to cardiac lesions or associated organ involvement is unknown Cardiac MRI is considered the most sensitive imaging method for ECD
3 Background 37 ECD patients studied with CT or MRI of the heart or large vessels 26 pts (70%) had abnormal heart imaging 30% right atrium pseudotumoral mass 19% infiltration of right AV sulcus 24% pericardial effusion 14% pericardial thickening Periarterial infiltration of the left coronary in 27% and of the right coronary in 5% (in absence of right AV sulcus infiltration) Haroche J, et al. Circulation 2009
4 Aims of the study To assess the frequency and type of cardiovascular manifestations in ECD using a standardised cardiac-mri and angio-mri protocol To compare the outcome (overall survival, progression-free survival) in CV+ vs CV- patients To explore the extent of organ involvement in CV+ vs CV- patients Study design and eligibility criteria Observational, prospective study including all patients with ECD diagnosed at or referred to our ECD clinic during the study period ( ) Diagnosis of ECD following Veyssier-Belot s criteria No contraindications to Gd-enhanced MRI
5 MRI study protocol MRI was performed using a 1.5T MR Scanner. MRI acquisition: ECG-gated MRI sequences b-ssfp: balanced steady-state free precession (b-ssfp). Cine sequence, allows evaluation of myocardial function (eg, contractility, diastolic phase)(bright blood) T1- or T2-weighted (black blood): allows visualisation of morphology, tissue edema and infiltration STIR (short-time inversion recovery): allows suppression of the fat signal (better differentiates adipose-rich tissue) 3D-GRE (gradient echo)/inversion recovery T1w-sequences: performed for evaluation of delayed enhancement Large vessel MRI: uses the above sequences but is not ECG-gated
6 Results Demographics and general features 23 consecutive patients enrolled (20 M, 87%), median age at diagnosis 48 yrs (range 22-72) 16 enrolled at diagnosis, 7 after a median of 72 (19-180) months from diagnosis All biopsy-proven ECD Of 18 pts tested, BRAF V600E was found in 12 (66.7%)
7 MRI results 10 patients (43%) had evidence of cardiac involvement Myocardial involvement in 9 and pericardial in 9 7 patients had large vessel involvement (of them only 1 did not have cardiac lesions) Myocardium Right atrial mass Right AV sulcus infiltration with frequent right coronary artery involvement No signs of diffuse myocardial infiltrative disease Pericardium Diffuse and irregular thickening Pericardial effusion (2 tamponade, 3 pericardiocentesis) Pericardial nodules Large vessels Diffuse thickening of the thoracic aorta and epiaortic artery origin Sometimes segmental involvement No stenosis or aneurysms
8 Frame taken from cine bssfp sequences Frame taken from cine bssfp sequences STIR T2-weighted image Gradient-echo T1- weighted post-gd injection (10 minutes) Frame taken from cine bssfp sequences Frame taken from cine bssfp sequences
9 Frame taken from cine bssfp sequences Frame taken from cine bssfp sequences Frame taken from cine bssfp sequences (two-chamber view, long axis) Gradient-echo T1- weighted post-gd injection (10 minutes) Frame taken from cine bssfp sequences Frame taken from cine bssfp sequences
10 MRI results Disease onset
11 MRI results Disease onset After pericardial drainage and SRL+PDN therapy
12 CV complications and outcomes With Cardiac MRI lesions 3 patients had dyspnea and edema due to pericarditis 1 patient had acute heart failure 1 patient had atrial flutter 1 patient had acute coronary syndrome due to atherosclerotic (non ECD-related) coronary artery disease Without Cardiac MRI lesions 1 patient had dyspnea due to uremic pericarditis 2 patients had acute coronary syndrome due to atherosclerotic (non ECD-related) coronary artery disease Survival 3 patients died (one in the cardiac and 2 in the non-cardiac group)
13 CV involvement and survival
14 CV involvement and survival
15 CV involvement and disease extension All (N=23) Cardiac involvement on MRI (N=10) No cardiac involvement on MRI (N=13) P value Age, median (range)- yrs 48 (22-72) 46.5 (25-70) 50 (22-72) 0.15 Time to diagnosis, median (range)- months 36 (1-180) 33 (3-126) 39 (1-180) 0.88 Bone involvement, n (%) 17 (73.9) 8 (80) 9 (69.2) 1.00 Retroperitoneal involvement, n (%) 17 (73.9) 9 (90) 8 (61.5) 0.74 CNS involvement, n (%) 5 (21.7) 2 (20) 3 (23.1) 1.00 Facial/orbit involvement, n (%) 8 (34.8) 6 (60) 2 (15.4) 0.22 Lung involvement, n (%) 5 (21.7) 4 (40) 1 (7.7) 0.32 Cutaneous involvement, n (%) 11 (47.8) 6 (60) 5 (38.5) 0.72 Endocrine involvement, n (%) 13 (56.5) 8 (80) 5 (38.5) 0.49
16 CV involvement and disease extension A p=0.0097
17 CV involvement and disease extension A p= B C D p=0.49 p=0.15 p= sites 4 sites 5 sites
18 Conclusions CV lesions detected by MRI occur in approximately 40% of ECD patients Typical cardiac lesions include pseudotumoral masses mainly involving the posterior wall of the right atrium, infiltration of the right AV sulcus, pericardial thickening/nodules and pericardial effusion Thoracic large-vessel (mainly aortic) involvement is frequent but often asymptomatic Patients with CV lesions more frequently have disseminated disease forms Larger studies are needed to ascertain whether ECD patients with (MRIdetected) CV lesions have a worse prognosis
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