A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy

Hereditary transthyretin amyloidosis (hATTR) is a class of disorders with various systemic clinical manifestations, most often cardiac and neurologic in origin. The I127V mutation is a known but uncommon type of hATTR that typically affects males in their sixth or seventh decade of life. We present...

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Autores principales: Ostojic, Maja, Gill, Sukhraj S, Avila, Jose David, Carry, Brendan J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Cardiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128760/
https://www.ncbi.nlm.nih.gov/pubmed/35637921
http://dx.doi.org/10.7759/cureus.25259
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author Ostojic, Maja
Gill, Sukhraj S
Avila, Jose David
Carry, Brendan J
author_facet Ostojic, Maja
Gill, Sukhraj S
Avila, Jose David
Carry, Brendan J
author_sort Ostojic, Maja
collection PubMed
description Hereditary transthyretin amyloidosis (hATTR) is a class of disorders with various systemic clinical manifestations, most often cardiac and neurologic in origin. The I127V mutation is a known but uncommon type of hATTR that typically affects males in their sixth or seventh decade of life. We present a case of this rare genetic variant with an atypical presentation of upper, followed by lower extremity sensorimotor polyneuropathy, with an uncharacteristic transthoracic echocardiogram (TTE) pattern but strongly positive pyrophosphate (PYP) scan, confirming the amyloidosis (AL) diagnosis.
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spelling pubmed-91287602022-05-29 A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy Ostojic, Maja Gill, Sukhraj S Avila, Jose David Carry, Brendan J Cureus Cardiology Hereditary transthyretin amyloidosis (hATTR) is a class of disorders with various systemic clinical manifestations, most often cardiac and neurologic in origin. The I127V mutation is a known but uncommon type of hATTR that typically affects males in their sixth or seventh decade of life. We present a case of this rare genetic variant with an atypical presentation of upper, followed by lower extremity sensorimotor polyneuropathy, with an uncharacteristic transthoracic echocardiogram (TTE) pattern but strongly positive pyrophosphate (PYP) scan, confirming the amyloidosis (AL) diagnosis. Cureus 2022-05-23 /pmc/articles/PMC9128760/ /pubmed/35637921 http://dx.doi.org/10.7759/cureus.25259 Text en Copyright © 2022, Ostojic et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Cardiology
Ostojic, Maja
Gill, Sukhraj S
Avila, Jose David
Carry, Brendan J
A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title_full A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title_fullStr A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title_full_unstemmed A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title_short A Rare Case of I127V Heterozygous Transthyretin Amyloidosis With Atypical Transthoracic Echocardiogram Findings Presenting As Upper Extremity Sensorimotor Polyneuropathy
title_sort rare case of i127v heterozygous transthyretin amyloidosis with atypical transthoracic echocardiogram findings presenting as upper extremity sensorimotor polyneuropathy
topic Cardiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9128760/
https://www.ncbi.nlm.nih.gov/pubmed/35637921
http://dx.doi.org/10.7759/cureus.25259
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