首页|转甲状腺素蛋白淀粉样变心肌病经氯苯唑酸治疗6个月1例

转甲状腺素蛋白淀粉样变心肌病经氯苯唑酸治疗6个月1例

A case of transthyretin amyloid cardiomyopathy treated with tafamidis for 6 months

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55岁的女性患者,因"反复胸闷、气促1年余,加重半个月余"入我院,同时伴有低血压及双下肢水肿,超声心动图提示左室壁弥漫性肥厚及心肌颗粒样改变,后经心肌磁共振、放射性核素骨闪烁扫描术、心内膜活检、单克隆免疫球蛋白检测、基因检测等检查最终被确诊为突变型转甲状腺素蛋白淀粉样变心肌病.该患者服用抑制甲状腺素蛋白淀粉沉积的特异性药物——氯苯唑酸后6个月,随访影像学检查提示心肌淀粉样蛋白沉积略有减少,实验室检查指标略有好转,但短期内发生慢性心力衰竭急性加重的周期并未明显缩短.99 Tcm-PYP SPECT/CT是早期筛查和鉴别转甲状腺素蛋白淀粉样变性的有效工具,氯苯唑酸是目前治疗转甲状腺素蛋白淀粉样变心肌病的特效性药物.早筛查、早诊断、早期启动特异性靶向药物治疗将为转甲状腺素蛋白淀粉样变心肌病患者带来新的治疗前景.
Here we report a case of a 55-year-old female patient who was admitted to our hospital with"recur-rent chest tightness and shortness of breath for more than a year,aggravated for over half a month",accompanied by hypotension and bilateral lower extremity edema,with echocardiography suggesting diffuse hypertrophy of the left ventricular wall and granular changes of the myocardium.Her diagnosis of mutant transthyretin amyloid car-diomyopathy was finally confirmed by myocardial magnetic resonance,radionuclide bone scintigraphy,endomyo-cardial biopsy,monoclonal immunoglobulin assay,and genetic testing.Six-month follow-up of this patient after taking tafamidis,a specific drug inhibiting transthyretin amyloidosis,showed a slight decrease in myocardial amy-loid deposition on 99Tcm-PYP SPECT/CT imaging and a slight improvement in laboratory tests,but the cycle of acute exacerbations of chronic heart failure occurring in the short term is not significantly shorter.99Tcm-PYP SPECT/CT is an effective tool for early screening and identification of transthyretin amyloidosis.Tafamidis is a potent drug for the treatment of transthyretin amyloid cardiomyopathy.Early screening,diagnosis,and adminis-tration of specific targeted pharmaceuticals will bring a new therapeutic outlook for patients with transthyretin am-yloid cardiomyopathy.

transthyretin amyloid cardiomyopathyheart failuretafamidis

孙金鹏、程敏

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华中科技大学同济医学院附属协和医院心内科(武汉,430022)

生物靶向治疗研究湖北省重点实验室

心血管疾病免疫诊疗湖北省工程研究中心

转甲状腺素蛋白淀粉样变心肌病 心力衰竭 氯苯唑酸

国家自然科学基金

82070318

2024

临床心血管病杂志
华中科技大学心血管病研究所 华中科技大学协和医院

临床心血管病杂志

CSTPCD
影响因子:0.653
ISSN:1001-1439
年,卷(期):2024.40(3)
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