Di Lisi Daniela, Comparato Francesco, Ortello Antonella, Di Stefano Vincenzo, Brighina Filippo, Macaione Francesca, La Fiura Giovanni, Di Caccamo Leandro, Madaudo Cristina, Galassi Alfredo R, Novo Giuseppina
Division of Cardiology, University Hospital Paolo Giaccone, 90127 Palermo, Italy.
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE) "G. D'Alessandro", University of Palermo, 90127 Palermo, Italy.
J Clin Med. 2024 Aug 20;13(16):4914. doi: 10.3390/jcm13164914.
In recent years, many advances have been made in the treatment of hereditary transthyretin amyloidosis (ATTRv). Patisiran is a small-interfering RNA used to treat ATTRv with only polyneuropathy or polyneuropathy and cardiomyopathy. The aim of our study was to assess the effect of patisiran on cardiac function in ATTRv patients using speckle tracking echocardiography (STE) analysis. : A single-center prospective study was performed enrolling 21 patients with ATTRv (11 M-52% of the population; 10 F-48% of the population; median age 66 ± 8.4 years old). A total of 7 patients had cardiac amyloidosis and polyneuropathy, and 14 patients had only polyneuropathy without cardiac involvement. Cardiological evaluation including electrocardiograms, echocardiography with STE, and assessment of myocardial work parameters was performed in all patients before starting patisiran and after 9-18 months. Functional capacity was assessed using the 6 min walk test; quality of life was assessed using the Kansas City Cardiomyopathy Questionnaire (KCCQ). : We did not find a significant difference in gender prevalence of ATTR amyloidosis in all of the population (-value 0.79), but we found that cardiac amyloidosis significantly predominated in the male sex compared to patients with only neuropathy. In all patients, we found a slight improvement in functional capacity and quality of life. We did not find significant changes in left ventricular ejection fraction (LVEF), but we found a significant improvement in left ventricular global longitudinal strain (GLS), global work waste (GWW), and global work efficiency (GWE), especially in patients with cardiac amyloidosis; E/e' average and left atrial stiffness also improved significantly in patients with cardiac amyloidosis. Our study confirms a positive effect of patisiran on cardiac function, particularly the absence of signs of subclinical deterioration as detected by very sensitive STE parameters such as GLS, MW, and atrial stiffness during follow up in patients treated with patisiran.
近年来，遗传性转甲状腺素蛋白淀粉样变性（ATTRv）的治疗取得了许多进展。帕替西兰是一种用于治疗仅患有多发性神经病或同时患有多发性神经病和心肌病的ATTRv的小干扰RNA。我们研究的目的是使用斑点追踪超声心动图（STE）分析评估帕替西兰对ATTRv患者心脏功能的影响。：进行了一项单中心前瞻性研究，纳入了21例ATTRv患者（男性11例，占人群的52%；女性10例，占人群的48%；中位年龄66±8.4岁）。共有7例患者患有心脏淀粉样变性和多发性神经病，14例患者仅患有多发性神经病而无心脏受累。在开始使用帕替西兰之前和9至18个月后，对所有患者进行了包括心电图、STE超声心动图以及心肌工作参数评估在内的心脏评估。使用6分钟步行试验评估功能能力；使用堪萨斯城心肌病问卷（KCCQ）评估生活质量。：我们发现在所有人群中ATTR淀粉样变性的性别患病率没有显著差异（P值为0.79），但我们发现与仅患有神经病的患者相比，心脏淀粉样变性在男性中明显更为常见。在所有患者中，我们发现功能能力和生活质量略有改善。我们未发现左心室射血分数（LVEF）有显著变化，但我们发现左心室整体纵向应变（GLS）、整体工作浪费（GWW）和整体工作效率（GWE）有显著改善，尤其是在患有心脏淀粉样变性的患者中；心脏淀粉样变性患者的E/e'平均值和左心房僵硬度也有显著改善。我们的研究证实了帕替西兰对心脏功能有积极作用，特别是在接受帕替西兰治疗的患者随访期间，通过非常敏感的STE参数如GLS、MW和心房僵硬度未检测到亚临床恶化迹象。
