Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement

Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous m...

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Autores principales: Micaglio, Emanuele, Santangelo, Gloria, Moscardelli, Silvia, Rusconi, Daniela, Musca, Francesco, Verde, Alessandro, Campiglio, Laura, Bursi, Francesca, Guazzi, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497760/
https://www.ncbi.nlm.nih.gov/pubmed/37711552
http://dx.doi.org/10.3389/fcvm.2023.1164916
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author Micaglio, Emanuele
Santangelo, Gloria
Moscardelli, Silvia
Rusconi, Daniela
Musca, Francesco
Verde, Alessandro
Campiglio, Laura
Bursi, Francesca
Guazzi, Marco
author_facet Micaglio, Emanuele
Santangelo, Gloria
Moscardelli, Silvia
Rusconi, Daniela
Musca, Francesco
Verde, Alessandro
Campiglio, Laura
Bursi, Francesca
Guazzi, Marco
author_sort Micaglio, Emanuele
collection PubMed
description Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.
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spelling pubmed-104977602023-09-14 Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement Micaglio, Emanuele Santangelo, Gloria Moscardelli, Silvia Rusconi, Daniela Musca, Francesco Verde, Alessandro Campiglio, Laura Bursi, Francesca Guazzi, Marco Front Cardiovasc Med Cardiovascular Medicine Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing. Frontiers Media S.A. 2023-08-29 /pmc/articles/PMC10497760/ /pubmed/37711552 http://dx.doi.org/10.3389/fcvm.2023.1164916 Text en © 2023 Micaglio, Santangelo, Moscardelli, Rusconi, Musca, Verde, Campiglio, Bursi and Guazzi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Micaglio, Emanuele
Santangelo, Gloria
Moscardelli, Silvia
Rusconi, Daniela
Musca, Francesco
Verde, Alessandro
Campiglio, Laura
Bursi, Francesca
Guazzi, Marco
Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title_full Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title_fullStr Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title_full_unstemmed Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title_short Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement
title_sort case report: a rare homozygous patient affected by ttr systemic amyloidosis with a prominent heart involvement
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497760/
https://www.ncbi.nlm.nih.gov/pubmed/37711552
http://dx.doi.org/10.3389/fcvm.2023.1164916
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