,Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not alw

来源 :医学前沿 | 被引量 : 0次 | 上传用户:tfgzs888
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases,particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities.In this case,a 57-year-old man was admitted for outpatient cardiological evaluation of progressive right heart failure and limb paraesthesias.The patient presented with hypertension,chronic Guillain-Barre syndrome,and sick sinus syndrome.Transthoracic echocardiograms showed a thickened ventricular wall and enlarged atrium.Tissue Doppler showed a restrictive filling patt.Transthyretin (TTR)-associated amyloidosis,which was revealed by abdominal fat-pad biopsy and DNA analysis,explained the concurrence of independent pathological features,including neuropathy and cardiac involvement.Genetic testing identified a G > T mutation in exon 4 of the transthyretin (TTR) gene.This mutation resulted in the alanine-to-serine substitution at amino acid position 117.Moreover,genetic testing confirmed that the patient’s asymptomatic son carried the same amyioidogenic TTR mutation.Given these findings,the diagnosis of familial amyloid cardiomyopathy,which was misdiagnosed as chronic Guillain-Barre syndrome,was proposed.
其他文献
In light of the rapid increase in the number of obesity incidences worldwide,obesity has become an independent risk factor for chronic kidney disease.Obesity-re
为探索中轻度盐碱地小麦适宜的播种方式,为盐碱地小麦种植提供一定的理论依据。于2014年在东营市现代畜牧业示范区,以“青麦6号”为试验材料,设置了3个处理(平播处理(CK)、沟内
Transcription factor networks have evolved in order to control,coordinate,and separate,the functions of distinct network modules spatially and temporally.In thi
A CALLG2008 protocol was developed by the Chinese Acute Lymphoblastic Leukemia Cooperative Group for adult acute lymphoblastic leukemia (ALL).We retrospectively
肢体语言是语言的一种表现形式,人们通过肢体来表达自己的想法,而影视表演的艺术特点就是通过使用生活化的动作或方式来表现所示角色的艺术特征和形象风格。因此,肢体语言是
以纳米聚丙烯(nano-polypropylene,PP)为基体,丙烯酸丁酯为单体,采用紫外辐射方法制备高吸油性复合材料(butyl acrylate grafted nano-polypropylene,BAPP)。试验确定的最佳
The main constituents of a typical medicinal herb,Polygonum muMflorum (Heshouwu in Chinese),that induces idiosyncratic liver injury remain unclear.Our previous