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Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

Postal Subscription Code 80-967

2018 Impact Factor: 1.847

Front. Med.    2017, Vol. 11 Issue (2) : 293-296     DOI: 10.1007/s11684-017-0516-9
Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem
Die Hu1, Ling Liu1, Shuguang Yuan2, Yuhong Yi1, Daoquan Peng1()
1. Department of Cardiovascular Medicine, the Second Xiangya Hospital, Central South University, Changsha 410011, China
2. Department of Nephrology, the Second Xiangya Hospital, Central South University, Changsha 410011, China
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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.

Keywords transthyretin (TTR) cardiac amyloidosis      sick sinus syndrome      chronic Guillain-Barre syndrome     
Corresponding Authors: Daoquan Peng   
Just Accepted Date: 28 March 2017   Online First Date: 13 April 2017    Issue Date: 01 June 2017
URL:     OR
Fig.1  24-h holter monitoring showing sinus arrest with normal QRS voltage and poor R-wave progression in anterior leads.
Fig.2  (A) Transthoracic 2-dimensional echocardiogram images in apical four-chamber view showing biatrial enlargement and thickened interventricular septum (white arrow). (B) Parasternal long-axis view showing significant thickening of the left ventricular posterior walls and interventricular septum (white arrow). (C) Transmitral Doppler flow showing restrictive pattern. (D) Tissue Doppler revealed reduced e’velocity, which indicated diastolic dysfunction.
Fig.3  (A) Congo Red stained amyloid deposits salmon pink as viewed under light microscopy (magnification, 400×). (B) Apple green birefringence of amyloid deposits as viewed under polarized light conditions (magnification, 400×). (C) Immunohistochemical staining of abdominal fat-pad biopsy with anti-TTR antibody (magnification, 400×).
Fig.4  DNA sequence chromatogram of the patient showing the G>T mutation at position 349 of exon 4. This mutation resulted in the Ala117Ser variant of the transthyretin protein.
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