参考文献: [1]Fontana M, et al. CRISPR-Cas9 Gene Editing with Nexiguran Ziclumeran for ATTR Cardiomyopathy. N Engl J Med. 2024 Nov 16.
该病例强调了罕见病ATTR-CM(cardiomyopathy,心肌病)临床表现的多样性以及诊断的复杂性。当发现患者不明原因心功能不全,超声心动图示左室肥厚而心电图无QRS高电压表现时,需警惕ATT-CM的可能,可进一步完善血清游离轻链(free light chain,FLC)和血清/尿免疫固定电泳(immunofixation electrophoresis,IFE),99Tcm磷酸盐衍生物...
ATTR包括治疗转甲状腺素蛋白淀粉样变性多发性神经病(Transthyretin amyloidosis polyneuropathy, ATTR-PN)和转甲状腺素蛋白心脏淀粉样变(Transthyretin amyloidosis cardiomyopathy, ATTR-CM),其中ATTR-CM又分为野生型ATTR(ATTRwt)和遗传型ATTR(hATTR)两种。 ATTRwt的发病率随着年龄的增长而增加,占比接近87.5%。它主要影响老...
参考文献: [1]L.A. McKeown. FDA Approves First ‘Near-Complete’ Stabilizer to Treat ATTR Cardiomyopathy. Acoramidis becomes the second drug ever approved for this condition, based on the results of the ATTRibute-CM tria...
Antibody-Associated Reversal of ATTR Amyloidosis-Related Cardiomyopathy.[J] .N Engl J Med, 2023, 388: 2199-2201. Garcia-Pavia Pablo,Aus dem Siepen Fabian,Donal Erwan et al. Phase 1 Trial of Antibody NI006 for Depletion of Cardiac Transthyretin Amyloid.[J] .N Engl J Med, 2023...
(ATTRv-PN), which can lead to nerve damage, or cardiomyopathy (ATTRv-CM), which can lead to heart failure. Some individuals without the genetic mutation produce non-mutated, or wild-type TTR proteins that become unstable over time, misfolding and aggregating in disease-causing amyloid ...
3. 室壁增厚或肥厚型心肌病(hypertrophic cardiomyopathy,HCM)患者 心室壁增厚或HCM患者应用上述不同筛查方法发现,ATTR-CA的患病率为0.5%~27.2%,ATTRwt-CA的患病率为0.5%~22.8%,ATTRm-CA的患病率为3.2%~5.0%。 4. 主动脉瓣狭窄(aortic stenosis, AS)患者 重度症状性AS计划行或已经行外科主动脉瓣置换术(surgi...
参考来源:‘BridgeBio announces consistently positive results from Phase 3 ATTRibute-CM study of acoramidis for patients with transthyretin amyloid cardiomyopathy (ATTR-CM)’,新闻发布。BridgeBio Pharma, Inc.;2023年7月17日发布。 注:本文旨在介绍医药健康研究,不作任何用药依据,具体用药指引,请咨询主治医师。
CARDIAC radionuclide imagingRESERVOIRSThe article discusses the evolving landscape of transthyretin cardiomyopathy (ATTR-CM) and the crucial role of multimodality cardiac imaging in its diagnosis and treatment. It highlights the importance of bone scintigraphy and cardiac magnetic resonance in non-invasive ...
[7]. HELIOS-B - Primary results from phase 3 study of vutrisiran in patients with transthyretin amyloidosis with cardiomyopathy. 2024 ESC 本材料由阿斯利康提供，旨在满足您的医学信息需求，仅供医疗卫生专业人士参考，不用于推广目的。审批编码：CN-142776 过期日期：2025-8-30 （转自：医学界）