open access

Vol 9, No 3 (2018)
Case report
Published online: 2018-10-17
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Novel diagnostic pathways in cardiac amyloidosis. Case-series study on transthyretin amyloidosis.

Paweł Rubiś1, Ewa Dziewięcka1, Katarzyna Holcman1, Wojciech Szot2, Sylwia Wiśniowska-Śmiałek1, Agata Leśniak-Sobelga1, Marta Hlawaty1, Piotr Podolec1, Magdalena Kostkiewicz12
DOI: 10.5603/Hem.2018.0032
·
Hematologia 2018;9(3):254-264.
Affiliations
  1. Klinika Chorób Serca i Naczyń Uniwersytetu Jagiellonskiego, KSS im. Jana Pawła II, ul. Pradnicka 80, 31-202 Krakow, Poland
  2. Zakład Medycyny Nuklearnej, KSS im. Jana Pawła II, Prądnicka 80, 31-202 Kraków, Poland

open access

Vol 9, No 3 (2018)
CASE REPORTS
Published online: 2018-10-17

Abstract

The systemic amyloidosis are diseases induced by misfolded proteins. These insoluble proteins deposit in extracellular space. Infiltration the heart by amyloid can result in progressive diastolic and systolic dysfunction and restrictive cardiomyopathy phenotype – left ventricle hypertrophy and stiffness. More than 20 different precursor proteins have the propensity to form amyloid fibrils. One of the most common amyloid infiltrating the heart is transthyretin amyloid (ATTR) - mostly inherited disease. ATTR is generally considered a mainly neurological disease, but it is phenotypically heterogeneous and the clinical spectrum of the disease varies widely, which makes the diagnosis a real challenge. Although, the early diagnosis improve the prognosis, especially due to new drug introduced in ATTR - tafamidis. In this article we would like to present the case series of transthyretin amyloidosis, which was diagnosed by heart scintigraphy or genetic testing.

Abstract

The systemic amyloidosis are diseases induced by misfolded proteins. These insoluble proteins deposit in extracellular space. Infiltration the heart by amyloid can result in progressive diastolic and systolic dysfunction and restrictive cardiomyopathy phenotype – left ventricle hypertrophy and stiffness. More than 20 different precursor proteins have the propensity to form amyloid fibrils. One of the most common amyloid infiltrating the heart is transthyretin amyloid (ATTR) - mostly inherited disease. ATTR is generally considered a mainly neurological disease, but it is phenotypically heterogeneous and the clinical spectrum of the disease varies widely, which makes the diagnosis a real challenge. Although, the early diagnosis improve the prognosis, especially due to new drug introduced in ATTR - tafamidis. In this article we would like to present the case series of transthyretin amyloidosis, which was diagnosed by heart scintigraphy or genetic testing.
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Keywords

restrictive cardiomyopathy, transtyretin amyloidosis ATTR

About this article
Title

Novel diagnostic pathways in cardiac amyloidosis. Case-series study on transthyretin amyloidosis.

Journal

Hematology in Clinical Practice

Issue

Vol 9, No 3 (2018)

Article type

Case report

Pages

254-264

Published online

2018-10-17

Page views

980

Article views/downloads

2258

DOI

10.5603/Hem.2018.0032

Bibliographic record

Hematologia 2018;9(3):254-264.

Keywords

restrictive cardiomyopathy
transtyretin amyloidosis ATTR

Authors

Paweł Rubiś
Ewa Dziewięcka
Katarzyna Holcman
Wojciech Szot
Sylwia Wiśniowska-Śmiałek
Agata Leśniak-Sobelga
Marta Hlawaty
Piotr Podolec
Magdalena Kostkiewicz

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