Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10386248" target="_blank" >RIV/00216208:11110/18:10386248 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064165:_____/18:10386248

Výsledek na webu

<a href="https://doi.org/10.1093/ehjci/jey132" target="_blank" >https://doi.org/10.1093/ehjci/jey132</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1093/ehjci/jey132" target="_blank" >10.1093/ehjci/jey132</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets

Popis výsledku v původním jazyce

Fabry disease (FD) is a rare genetic X-linked disorder that can impact multiple organs. Cardiac involvement influences the prognosis of patients with FD, being one of the main causes of mortality. Cardiac imaging has proven essential in all aspects of Fabry cardiomyopathy evaluation, such as diagnosis (including detection of early organ changes), disease progression, and guideline for starting enzyme therapy. Imaging techniques used in cardiac evaluation of FD range from 2D and deformation studies in echocardiography to cardiac magnetic resonance (CMR), cardiac scintigraphy and positron emission tomography. The present review summarizes the imaging &apos;red flags&apos; demonstrated to be able to differentiate early cardiac FD from normal controls and Fabry cardiomyopathy from other causes of hypertrophic cardiomyopathy. Also, it discusses the current evidence for the role of CMR in myocardial tissue characterization, as well as other imaging methods that have shown promise in FD. Current knowledge of the evaluation of the presence and extent of cardiac involvement at baseline and during follow-up of enzyme therapy efficiency are further presented. Multiple studies demonstrated that imaging parameters can be reliably used in establishing diagnosis and monitoring therapy in FD. Given the rarity of this disorder, we conclude that awareness should be raised about these imaging &apos;red flags&apos; and likely patients sent for evaluation in expert centres.

Název v anglickém jazyce

Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets

Popis výsledku anglicky

Fabry disease (FD) is a rare genetic X-linked disorder that can impact multiple organs. Cardiac involvement influences the prognosis of patients with FD, being one of the main causes of mortality. Cardiac imaging has proven essential in all aspects of Fabry cardiomyopathy evaluation, such as diagnosis (including detection of early organ changes), disease progression, and guideline for starting enzyme therapy. Imaging techniques used in cardiac evaluation of FD range from 2D and deformation studies in echocardiography to cardiac magnetic resonance (CMR), cardiac scintigraphy and positron emission tomography. The present review summarizes the imaging &apos;red flags&apos; demonstrated to be able to differentiate early cardiac FD from normal controls and Fabry cardiomyopathy from other causes of hypertrophic cardiomyopathy. Also, it discusses the current evidence for the role of CMR in myocardial tissue characterization, as well as other imaging methods that have shown promise in FD. Current knowledge of the evaluation of the presence and extent of cardiac involvement at baseline and during follow-up of enzyme therapy efficiency are further presented. Multiple studies demonstrated that imaging parameters can be reliably used in establishing diagnosis and monitoring therapy in FD. Given the rarity of this disorder, we conclude that awareness should be raised about these imaging &apos;red flags&apos; and likely patients sent for evaluation in expert centres.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30201 - Cardiac and Cardiovascular systems

Projekt

—

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

European Heart Journal: Cardiovascular Imaging

ISSN

2047-2404

e-ISSN

—

Svazek periodika

19

Číslo periodika v rámci svazku

12

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

10

Strana od-do

1313-1322

Kód UT WoS článku

000455360200001

EID výsledku v databázi Scopus

2-s2.0-85056802005