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Archives of cardiovascular diseases
Volume 105, n° 11
pages 614-615 (novembre 2012)
Doi : 10.1016/j.acvd.2011.07.004
Received : 3 June 2011 ;  accepted : 6 July 2011
Diagnosis of cardiac amyloidosis by magnetic resonance imaging due to a new mutation in the transthyretin gene
Diagnostic d’une amylose cardiaque par IRM en rapport avec une nouvelle mutation du gène de la transthyrétine

Thibaud Damy a, b, c, d, , Violaine Plante-Bordeneuve b, d, e, Sophie Valleix f, g
a Fédération de cardiologie, groupe hospitalier Henri-Mondor, Créteil, France 
b Réseau Amylose-Mondorien, groupe hospitalier Henri-Mondor, Créteil, France 
c IMRB, Inserm U955 team 08, Créteil, France 
d Faculté de médecine, université Paris-Est Créteil, UPEC, Créteil, France 
e Neurology department, groupe hospitalier Henri-Mondor, Créteil, France 
f Laboratoire de biochimie et génétique moléculaire, faculté de médecine, université Paris Descartes, Sorbonne Paris Cité, AP–HP, Paris, France 
g Inserm, institut Cochin (1016), Paris, France 

Corresponding author. Fax: +33 1 49 81 28 83.

Keywords : Heart failure, Amyloidosis, Transthyretin

Mots clés : Amylose, Insuffisance cardiaque, Transthyrétine

Abbreviations : MRI, TTR

A 68-year-old man with hypertension and atrial fibrillation was referred to the heart failure department for dyspnoea; he had clinical signs of right heart failure. Results of neurological clinical examination and electromyogram were normal. Doppler echocardiography showed concentric hypertrophy of the left ventricle, with an ejection fraction of 37% (Appendix A). The two atria were enlarged (Appendix A). The mitral valves were thickened, causing mitral regurgitation (Appendix A). Transmitral flow showed a restrictive pattern and systolic pulmonary artery pressure was estimated at 54mmHg. A magnetic resonance imaging (MRI) scan showed widespread post-gadolinium delayed enhancement in the left ventricular wall and atria, suggesting amyloidosis (Figure 1, Figure 2). Standard biological examination, protide electrophoresis and immunofixation were normal, as was a salivary gland biopsy. Myocardial biopsies of the right ventricle were performed. Several immunostaining tests were performed on these cardiac biopsies: the Congo red dye test showed diffuse dark-red cardiac amyloid deposits (image not shown). Under polarized light the amyloid proteins glowed green with this red dye test (image not shown). Transthyretin (TTR) immunostaining was strongly positive (Figure 3), whereas the light chain (kappa and lambda) immunostaining test was negative. Full sequencing of the TTR gene showed a new heterozygote pathogenic mutation: TTR-Thr-75-Ile.

Figure 1

Figure 1. 

Short-axis cardiac magnetic resonance imaging view, showing circumferential left ventricular post-gadolinium delayed widespread enhancement (arrows).


Figure 2

Figure 2. 

Four-chamber cardiac magnetic resonance imaging view showing left ventricular hypertrophy, left atrial enlargement and post-gadolinium delayed widespread enhancement (arrows).


Figure 3

Figure 3. 

Positive peroxydase immunohistochemical staining of the myocardial biopsy for transthyretin (arrow).


MRI post-gadolinium delayed enhancement can reveal cardiac amyloidosis. A TTR-Thr-75-Ile mutation of the TTR gene could be associated with isolated hypertrophic cardiomyopathy.

Disclosure of interest

The authors declare that they have no conflicts of interest concerning this article.


We thank Jean-Francois Deux for the cardiac MRI, Nicole Benhaiem for the TTR immunohistochemical staining and Soulef Guendouz and Félix Richon for the article writing.

Appendix A. Supplementary data

Click here to download the file (16.01 Mo)
 Video 1 
Video 1. 

Four-chamber view showing left ventricular hypertrophy and atrial enlargement.

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 Video 2 
Video 2. 

Mitral regurgitation due to mitral valve amyloidosis deposits.

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