Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation

Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of...

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Autores principales: Keppel, Stormy C., Brannagan, Thomas H., Helmke, Stephen, Santos, Jeffeny De Los, Gonzalez, Leidy J., Fayerman, Raisy, Teruya, Sergio, Maurer, Mathew S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Mini-Focus Issue: Cardiomyopathies and Myocarditis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299767/
https://www.ncbi.nlm.nih.gov/pubmed/34317109
http://dx.doi.org/10.1016/j.jaccas.2020.08.030
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author Keppel, Stormy C.
Brannagan, Thomas H.
Helmke, Stephen
Santos, Jeffeny De Los
Gonzalez, Leidy J.
Fayerman, Raisy
Teruya, Sergio
Maurer, Mathew S.
author_facet Keppel, Stormy C.
Brannagan, Thomas H.
Helmke, Stephen
Santos, Jeffeny De Los
Gonzalez, Leidy J.
Fayerman, Raisy
Teruya, Sergio
Maurer, Mathew S.
author_sort Keppel, Stormy C.
collection PubMed
description Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. (Level of Difficulty: Intermediate.)
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spelling pubmed-82997672021-07-26 Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation Keppel, Stormy C. Brannagan, Thomas H. Helmke, Stephen Santos, Jeffeny De Los Gonzalez, Leidy J. Fayerman, Raisy Teruya, Sergio Maurer, Mathew S. JACC Case Rep Mini-Focus Issue: Cardiomyopathies and Myocarditis Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fat pad biopsy. (Level of Difficulty: Intermediate.) Elsevier 2020-11-04 /pmc/articles/PMC8299767/ /pubmed/34317109 http://dx.doi.org/10.1016/j.jaccas.2020.08.030 Text en © 2020 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Mini-Focus Issue: Cardiomyopathies and Myocarditis
Keppel, Stormy C.
Brannagan, Thomas H.
Helmke, Stephen
Santos, Jeffeny De Los
Gonzalez, Leidy J.
Fayerman, Raisy
Teruya, Sergio
Maurer, Mathew S.
Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title_full Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title_fullStr Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title_full_unstemmed Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title_short Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation
title_sort early-onset of transthyretin amyloidosis in a young afro-caribbean woman with thr60ala mutation
topic Mini-Focus Issue: Cardiomyopathies and Myocarditis
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299767/
https://www.ncbi.nlm.nih.gov/pubmed/34317109
http://dx.doi.org/10.1016/j.jaccas.2020.08.030
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