Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome： things are not always what they seem

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...

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Bibliographic Details
Published in:Frontiers of medicine 2017-06, Vol.11 (2), p.293-296
Main Authors: Hu, Die, Liu, Ling, Yuan, Shuguang, Yi, Yuhong, Peng, Daoquan
Format: Article
Language:English
Subjects:
Amyloid - genetics
Amyloidosis, Familial - genetics
Amyloidosis, Familial - pathology
Cardiomyopathies - genetics
Cardiomyopathies - pathology
Cardiomyopathy
Case Report
chronic Guillain-Barre syndrome
Diagnosis, Differential
Echocardiography, Doppler
Electrocardiography, Ambulatory
Genetic Testing
Guillain-Barre Syndrome
Heart Failure - etiology
Heart Failure - physiopathology
Heart Ventricles - diagnostic imaging
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Myocardium - pathology
Prealbumin - genetics
sick sinus syndrome
Sick Sinus Syndrome - diagnosis
transthyretin (TTR) cardiac amyloidosis
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Summary: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 pattern. 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 amyloidogenic TTR mutation. Given these findings, the diagnosis of familial amyloid cardiomyopathy, which was misdiagnosed as chronic Guillain-Barre syndrome, was proposed.
ISSN:2095-0217
2095-0225
DOI:10.1007/s11684-017-0516-9