突变型转甲状腺素蛋白心脏淀粉样变1例

Hereditary transthyretin cardiac amyloidosis:a case report

本文报道1例因反复头晕、腹泻、肢体麻木等多系统受累症状就诊而确诊为转甲状腺素蛋白心脏淀粉样变的患者。患者因“头晕1周余”入院,经完善免疫固定电泳、超声心动图、心脏磁共振、心脏核素、基因等相关检查,最终确诊为转甲状腺素蛋白心脏淀粉样变(突变型),给予氯苯唑酸特异性治疗后病情好转。

This article reports a case of transthyretin cardiac amyloidosis(ATTR-CA) who was diagnosed because of repeated dizziness,diarrhea,limb numbness,and other symptoms of multi-system involvement.The patient was admitted due to dizziness for more than 1 week,and was finally diagnosed with mutant ATTR-CA(ATTRm) after completing immunofixation electrophoresis,echocardiography,cardiac magnetic resonance,~(99 m)Tc-pyrophosphate(~(99 m)Tc-PYP),gene and other related examinations.After specific treatment with tafamidis,the patient's condition was improved and discharged.