Pucci Martina, Iadevaia Velia, Gammaldi Vittoria, Iervolino Adelaide, Capece Luca Maria, Sciascia Domenico, Cuomo Vittoria, Iacono Marina, Paoletta Daniele, Santoro Ciro, Esposito Roberta
Department of Clinical Medicine and Surgery, Federico II University Hospital, 80131 Naples, Italy.
Department of Advanced Biomedical Sciences, Federico II University Hospital, 80131 Naples, Italy.
Life (Basel). 2023 Jul 16;13(7):1571. doi: 10.3390/life13071571.
: Right ventricular (RV) involvement in Anderson-Fabry disease (AFD) is well known in the advanced stages of the disease RV hypertrophies, but little is known about the early involvement. The aim of our study was to assess RV function in AFD patients at diagnosis. : A total of 23 AFD patients and 15 controls comparable for age and sex were recruited. A complete 2D standard echo with 3D volumetric and strain analysis of RV was performed. Two patient populations, comparable for clinical baseline characteristics were considered. RV free wall thickness was significantly increased in the AFD group. No significant differences in standard RV indices (TAPSE, transverse diameter, tissue Doppler velocities of the lateral tricuspid annulus) were found. A 3D volumetric analysis showed reduced RV ejection fraction and lower values of longitudinal septal, free wall and global longitudinal strain (GLS) in AFD patients. RV free wall thickness significantly correlated with both free wall RV LS and RV GLS. In multiple linear regression analysis, RV free wall thickness was independently associated with RV GLS even after correction for age and heart rate. In AFD patients, 3D echocardiography allows for the identification of early subclinical functional impairment of RV. RV dysfunction is independently associated with RV hypertrophy.
右心室（RV）受累于安德森-法布里病（AFD）在疾病晚期是众所周知的，此时右心室会肥厚，但对于早期受累情况知之甚少。我们研究的目的是评估AFD患者诊断时的右心室功能。
共招募了23例AFD患者和15例年龄和性别匹配的对照。对右心室进行了完整的二维标准超声心动图检查，并进行三维容积和应变分析。考虑了两组临床基线特征相似的患者群体。AFD组右心室游离壁厚度显著增加。在标准右心室指标（三尖瓣环平面收缩期位移、横径、三尖瓣环外侧组织多普勒速度）方面未发现显著差异。三维容积分析显示，AFD患者右心室射血分数降低，室间隔纵向、游离壁纵向和整体纵向应变（GLS）值较低。右心室游离壁厚度与游离壁右心室纵向应变和右心室GLS均显著相关。在多元线性回归分析中，即使校正年龄和心率后，右心室游离壁厚度仍与右心室GLS独立相关。在AFD患者中，三维超声心动图可识别右心室早期亚临床功能损害。右心室功能障碍与右心室肥厚独立相关。
