Atypical cardiac amyloidosis phenotypes identified at transplant: a case series.
Cardiac amyloidosis
Case series
Dilated cardiomyopathy
Heart transplant
Journal
European heart journal. Case reports
ISSN: 2514-2119
Titre abrégé: Eur Heart J Case Rep
Pays: England
ID NLM: 101730741
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
03
10
2022
revised:
22
11
2022
accepted:
23
02
2023
entrez:
16
3
2023
pubmed:
17
3
2023
medline:
17
3
2023
Statut:
epublish
Résumé
Transthyretin amyloidosis (TTR) is increasingly implicated as an aetiology of advanced cardiomyopathy. Typically, both genetic variant (TTRv) and wild-type (TTRwt) amyloidosis present with a restrictive phenotype. We present a series of three patients who were found to have cardiac amyloidosis on explant following heart transplant (HT) who had atypical, non-restrictive phenotypes. All three patients were men, three were Black, and only one had an alternative pre-HT explanation for their advanced, dilated cardiomyopathy. Pre-HT transthoracic echocardiograms were notable for left ventricular (LV) dilation (>95th percentile for height and gender), low EF, and normal LV wall thickness. Explants showed varying amounts of amyloid deposition, ranging from diffuse biventricular patterns to perivascular involvement. Mass spectrometry confirmed the presence of TTRv (two cases) and TTRwt (one case). Patients with dilated cardiomyopathy may harbour cardiac amyloidosis. Uncertainty remains regarding the contribution of amyloidosis to the development of a dilated phenotype. The pathogenic Val142Ile variant seen in two of these patients, a variant common in Black patients, suggests a need for further investigation into the potential relationship between TTRv amyloidosis and dilated cardiomyopathy.
Sections du résumé
Background
UNASSIGNED
Transthyretin amyloidosis (TTR) is increasingly implicated as an aetiology of advanced cardiomyopathy. Typically, both genetic variant (TTRv) and wild-type (TTRwt) amyloidosis present with a restrictive phenotype. We present a series of three patients who were found to have cardiac amyloidosis on explant following heart transplant (HT) who had atypical, non-restrictive phenotypes.
Case Summary
UNASSIGNED
All three patients were men, three were Black, and only one had an alternative pre-HT explanation for their advanced, dilated cardiomyopathy. Pre-HT transthoracic echocardiograms were notable for left ventricular (LV) dilation (>95th percentile for height and gender), low EF, and normal LV wall thickness. Explants showed varying amounts of amyloid deposition, ranging from diffuse biventricular patterns to perivascular involvement. Mass spectrometry confirmed the presence of TTRv (two cases) and TTRwt (one case).
Discussion
UNASSIGNED
Patients with dilated cardiomyopathy may harbour cardiac amyloidosis. Uncertainty remains regarding the contribution of amyloidosis to the development of a dilated phenotype. The pathogenic Val142Ile variant seen in two of these patients, a variant common in Black patients, suggests a need for further investigation into the potential relationship between TTRv amyloidosis and dilated cardiomyopathy.
Identifiants
pubmed: 36923113
doi: 10.1093/ehjcr/ytad105
pii: ytad105
pmc: PMC10010473
doi:
Types de publication
Case Reports
Langues
eng
Pagination
ytad105Informations de copyright
© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.
Déclaration de conflit d'intérêts
Conflict of interest: None declared.
Références
Am J Cardiol. 2005 Feb 15;95(4):535-7
pubmed: 15695149
Circulation. 2005 Sep 27;112(13):2047-60
pubmed: 16186440
Diagnostics (Basel). 2021 May 30;11(6):
pubmed: 34070853
Am J Hypertens. 2008 Jul;21(7):799-805
pubmed: 18443564
J Heart Lung Transplant. 2022 Feb;41(2):199-207
pubmed: 34922822
Circ Heart Fail. 2016 Jun;9(6):e002558
pubmed: 27188913
Circulation. 2016 Jan 19;133(3):282-90
pubmed: 26660282
J Echocardiogr. 2019 Jun;17(2):64-75
pubmed: 30741395
J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481
pubmed: 30442290