Clinical and Experimental Radiology Unit, Experimental Imaging Center, IRCCS San Raffaele Scientific Institute, Via Olgettina 58 - 60, 20132, Milan, Italy.
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy.
Radiol Med. 2023 Apr;128(4):456-466. doi: 10.1007/s11547-023-01616-7. Epub 2023 Mar 22.
Erdheim-Chester disease (ECD) is a rare multisystem histiocytosis, whose cardiovascular involvement has not been systematically characterized so far. We aimed to systematically (qualitatively and quantitatively) describe the features of cardiovascular involvement in a large cohort of ECD patients and to evaluate its impact on myocardial fibrosis extension and cardiac function.
Among 54 patients with biopsy-proven ECD, 29 patients (59 ± 12 years, 79% males) underwent 1.5-T CMR using a standardized protocol for qualitative and quantitative assessment of disease localization, evaluation of atrial and ventricular function, and assessment of non-dense and dense myocardial fibrosis.
The right atrioventricular (AV) groove was the most commonly affected cardiac site (76%) followed by the right atrial walls (63%), thoracic aorta (59%), and superior vena cava (38%). Right AV groove involvement, encasing the right ventricular artery, was associated with non-dense myocardial fibrosis in the infero-septal (20/26 patients) and the inferior (14/26 patients) mid-basal left ventricular (LV) wall. In two patients with right AV groove localization, LGE revealed myocardial infarction in the same myocardial segments. Three out of five patients with left AV groove involvement had non-dense LGE on the lateral LV mid-basal wall. Bulky right atrial pseudomass was associated with atrial dysfunction and superior and inferior vena cava stenosis.
In ECD patients, AV groove localization is associated with LV wall fibrosis in the downstream coronary territories, suggesting hemodynamic alterations due to coronary encasement. Conversely, atrial pseudomass ECD localizations impact on atrial contractility causing atrial dysfunction and are associated with atrio-caval junction stenosis.
埃尔德海姆-切斯特病（ECD）是一种罕见的多系统组织细胞增生症，其心血管受累迄今尚未系统描述。我们旨在系统（定性和定量）描述大样本ECD 患者心血管受累的特征，并评估其对心肌纤维化扩展和心功能的影响。
在 54 例经活检证实的 ECD 患者中，29 例患者（59±12 岁，79%为男性）接受了 1.5-T CMR 检查，使用标准化方案进行疾病定位的定性和定量评估、心房和心室功能评估以及非致密和致密心肌纤维化评估。
右房室（AV）沟是最常受影响的心脏部位（76%），其次是右心房壁（63%）、胸主动脉（59%）和上腔静脉（38%）。包裹右心室动脉的右 AV 沟受累与中隔下（26 例患者中的 20 例）和下（26 例患者中的 14 例）基底部左心室（LV）壁的非致密性心肌纤维化有关。在 2 例右 AV 沟定位的患者中，LGE 显示同一心肌节段的心肌梗死。5 例左 AV 沟受累患者中有 3 例出现外侧 LV 基底部非致密性 LGE。大的右心房假性肿块与心房功能障碍和上下腔静脉狭窄有关。
在 ECD 患者中，AV 沟定位与下游冠状动脉区域的 LV 壁纤维化有关，提示由于冠状血管包裹而导致的血流动力学改变。相反，心房假性肿块 ECD 定位会影响心房收缩功能，导致心房功能障碍，并与房-腔交界处狭窄有关。
