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Amyloid
The Journal of Protein Folding Disorders
Volume 19, 2012 - Issue 2
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Case Reports

The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation

Enrico AmmiratiThe Cardiothoracic and Vascular Department, Milan, ItalyCorrespondence[email protected] [email protected]
,
Nicola MarzilianoThe Pathology Department, Niguarda Ca’ Granda Hospital, Milan, Italy
,
Claudia VittoriThe Cardiothoracic and Vascular Department, Milan, Italy
,
Patrizia PedrottiThe Cardiothoracic and Vascular Department, Milan, Italy
,
Manuela A. BramerioThe Pathology Department, Niguarda Ca’ Granda Hospital, Milan, Italy
,
Valentina MottaThe Pathology Department, Niguarda Ca’ Granda Hospital, Milan, Italy
,
Francesco OrsiniThe Pathology Department, Niguarda Ca’ Granda Hospital, Milan, Italy
,
Silvio VeroneseThe Pathology Department, Niguarda Ca’ Granda Hospital, Milan, Italy
,
Piera A. MerliniThe Cardiothoracic and Vascular Department, Milan, Italy
,
Luigi MartinelliThe Cardiothoracic and Vascular Department, Milan, Italy
&
Maria FrigerioThe Cardiothoracic and Vascular Department, Milan, ItalyCorrespondence[email protected] [email protected]
 show all
Pages 113-117 | Received 07 Dec 2011, Accepted 10 Feb 2012, Published online: 27 Mar 2012

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Catarina Martins da Costa, Ana Filipa Amador, João Calvão, Alice Vasconcelos Porto, Susana Fernandes, Elisabete Martins & Filipe Macedo. (2023) First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an “African variant” in Caucasians. Scandinavian Cardiovascular Journal 57:1.
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Grégoire Albenque, Mélanie Bézard, Mounira Kharoubi, Shirley Odouard, Ariane Lunati, Elsa Poullot, Amira Zaroui, Emmanuel Teiger, Luc Hittinger, Vincent Audard, Khalil El Karoui, Benoît Funalot, Pascale Fanen, Thibaud Damy & Silvia Oghina. (2023) Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study. Amyloid 30:4, pages 407-415.
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Daniel R. Jacobson, Alice A. Alexander, Clement Tagoe & Joel N. Buxbaum. (2015) Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African–Americans. Amyloid 22:3, pages 171-174.
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Thenappan Thenappan, Savitri Fedson, Jonathan Rich, Catherine Murks, Aliya Husain, Jennifer Pogoriler & Allen S. Anderson. (2014) Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis. Amyloid 21:2, pages 120-123.
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Articles from other publishers (12)

Serena ZampinoFarooq H. SheikhJoban Vaishnav, Daniel JudgeBaohan PanAmrita DanielEmily BrownGigi Ebenezer & Michael Polydefkis. (2023) Phenotypes Associated With the Val122Ile, Leu58His, and Late-Onset Val30Met Variants in Patients With Hereditary Transthyretin Amyloidosis. Neurology 100:19.
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Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David Erbe, Emre Aldinc, Philip N. Hawkins, Julian D. Gillmore, Leland E. Hull, Julie A. Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimee M. Deaton, Lucas D. Ward, Themistocles L. Assimes, Philip S. Tsao, Kyong-Mi Chang, Daniel J. Rader, Kevin Fitzgerald, Akshay K. Vaishnaw, Gregory Hinkle & Paul Nioi. (2021) Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry. Scientific Reports 11:1.
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Foteini Theodorakakou, Despina Fotiou, Meletios A. Dimopoulos & Efstathios Kastritis. (2020) Solid Organ Transplantation in Amyloidosis. Acta Haematologica 143:4, pages 352-364.
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Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli & Renato Polimanti. (2017) Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis. European Journal of Human Genetics 25:9, pages 1055-1060.
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Matthew Sousa, Gregory Monohan, Navin Rajagopalan, Alla Grigorian & Maya Guglin. (2017) Heart transplantation in cardiac amyloidosis. Heart Failure Reviews 22:3, pages 317-327.
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Daniel R. Jacobson, Alice A. Alexander, Clement Tagoe, W. T. Garvey, Scott M. Williams, Sara Tishkoff, David Modiano, Sodiomon B. Sirima, Issa Kalidi, Amadou Toure & Joel N. Buxbaum. (2016) The prevalence and distribution of the amyloidogenic transthyretin ( TTR ) V122I allele in Africa . Molecular Genetics & Genomic Medicine 4:5, pages 548-556.
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Francesco Cappelli, Sabrina Frusconi, Franco Bergesio, Elisa Grifoni, Alessia Fabbri, Costanza Giuliani, Serena Falconi, Stefania Bonifacio & Federico Perfetto. (2016) The Val142Ile transthyretin cardiac amyloidosis. Journal of Cardiovascular Medicine 17:2, pages 122-125.
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Michael N. Vranian, Brett W. Sperry, Jason Valent & Mazen Hanna. (2015) Emerging Advances in the Management of Cardiac Amyloidosis. Current Cardiology Reports 17:11.
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Andrew N. Rosenbaum & Brooks S. Edwards. (2015) Current indications, strategies, and outcomes with cardiac transplantation for cardiac amyloidosis and sarcoidosis. Current Opinion in Organ Transplantation 20:5, pages 584-592.
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A.S. Carr, A.L. Pelayo-Negro, Z. Jaunmuktane, R.S. Scalco, D. Hutt, M.R.B. Evans, E. Heally, S. Brandner, J. Holton, J. Blake, C.J. Whelan, A.D. Wechalekar, J.D. Gillmore, P.N. Hawkins & M.M. Reilly. (2015) Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. Neuromuscular Disorders 25:6, pages 511-515.
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Simon W Dubrey, Sarah Ghonim & Julian D Gillmore. (2014) A white man with a very African form of hereditary amyloid cardiomyopathy. British Journal of Hospital Medicine 75:10, pages 592-593.
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Enrico Ammirati, Fabrizio Oliva, Aldo Cannata, Rachele Contri, Tiziano Colombo, Luigi Martinelli & Maria Frigerio. (2014) Current indications for heart transplantation and left ventricular assist device: A practical point of view. European Journal of Internal Medicine 25:5, pages 422-429.
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