Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging

Cardiac amyloidosis is a severely underdiagnosed cause of heart failure with preserved ejection fraction. We report a case of highly probable transthyretin (ATTR) cardiac amyloidosis (ATTR-CA) diagnosed through the assistance of non-invasive multimodality imaging. An 81-year-old man presented with w...

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Main Authors: Raja Ezman Raja Shariff, Hafisyatul Aiza Zainal Abidin, Sazzli Kasim
Format: Article
Language:English
Published: SAGE Publishing 2022-12-01
Series:Proceedings of Singapore Healthcare
Online Access:https://doi.org/10.1177/20101058211006146
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author Raja Ezman Raja Shariff
Hafisyatul Aiza Zainal Abidin
Sazzli Kasim
author_facet Raja Ezman Raja Shariff
Hafisyatul Aiza Zainal Abidin
Sazzli Kasim
author_sort Raja Ezman Raja Shariff
collection DOAJ
description Cardiac amyloidosis is a severely underdiagnosed cause of heart failure with preserved ejection fraction. We report a case of highly probable transthyretin (ATTR) cardiac amyloidosis (ATTR-CA) diagnosed through the assistance of non-invasive multimodality imaging. An 81-year-old man presented with worsening dyspnoea, reduced effort tolerance and limb swelling. Examination and bedside investigations demonstrated congestive cardiac failure. On arrival, N-terminal-pro B-type natriuretic peptide was 2400 ng/L, and high-sensitivity troponin T was 78 mmol/L. Echocardiography showed severe left and right ventricular hypertrophy, and a Doppler study revealed diastolic dysfunction. Cardiac magnetic resonance imaging revealed on non-conventional dark blood sequence an abnormal inversion time for nulling myocardium suggestive of infiltrative disease, including amyloidosis. The patient was referred for nuclear-based studies involving technetium-99m pyrophosphate which demonstrated changes highly diagnostic of ATTR-CA. Early diagnosis of ATTR-CA remains paramount due to the increasing availability of disease-modifying therapies. Current guidelines recognise the role of multimodality imaging in confidently recognising the disease without the need for histological evidence in the appropriate context, providing an alternative means of diagnosis.
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spelling doaj.art-606fc7698f614df6bf92ae0b1cd027d42022-12-22T04:42:10ZengSAGE PublishingProceedings of Singapore Healthcare2059-23292022-12-013110.1177/20101058211006146Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imagingRaja Ezman Raja ShariffHafisyatul Aiza Zainal AbidinSazzli KasimCardiac amyloidosis is a severely underdiagnosed cause of heart failure with preserved ejection fraction. We report a case of highly probable transthyretin (ATTR) cardiac amyloidosis (ATTR-CA) diagnosed through the assistance of non-invasive multimodality imaging. An 81-year-old man presented with worsening dyspnoea, reduced effort tolerance and limb swelling. Examination and bedside investigations demonstrated congestive cardiac failure. On arrival, N-terminal-pro B-type natriuretic peptide was 2400 ng/L, and high-sensitivity troponin T was 78 mmol/L. Echocardiography showed severe left and right ventricular hypertrophy, and a Doppler study revealed diastolic dysfunction. Cardiac magnetic resonance imaging revealed on non-conventional dark blood sequence an abnormal inversion time for nulling myocardium suggestive of infiltrative disease, including amyloidosis. The patient was referred for nuclear-based studies involving technetium-99m pyrophosphate which demonstrated changes highly diagnostic of ATTR-CA. Early diagnosis of ATTR-CA remains paramount due to the increasing availability of disease-modifying therapies. Current guidelines recognise the role of multimodality imaging in confidently recognising the disease without the need for histological evidence in the appropriate context, providing an alternative means of diagnosis.https://doi.org/10.1177/20101058211006146
spellingShingle Raja Ezman Raja Shariff
Hafisyatul Aiza Zainal Abidin
Sazzli Kasim
Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
Proceedings of Singapore Healthcare
title Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
title_full Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
title_fullStr Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
title_full_unstemmed Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
title_short Through thick and thin: Diagnosis of transthyretin cardiac amyloidosis through non-invasive multimodality imaging
title_sort through thick and thin diagnosis of transthyretin cardiac amyloidosis through non invasive multimodality imaging
url https://doi.org/10.1177/20101058211006146
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