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Heart failure in Fabry disease revisited: application of current heart failure guidelines and recommendations

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10446877" target="_blank" >RIV/00064165:_____/22:10446877 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/22:10446877

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=kMDgRGeGxP" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=kMDgRGeGxP</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/ehf2.14091" target="_blank" >10.1002/ehf2.14091</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Heart failure in Fabry disease revisited: application of current heart failure guidelines and recommendations

  • Original language description

    Aims: Fabry disease (FD) is often associated with heart failure (HF). However, data on HF prevalence, prognosis, and applicability of echocardiographic criteria for HF diagnosis in FD remain uncertain. Methods and results: We evaluated patients with genetically proven FD for symptoms and natriuretic peptides indicating HF. We then analysed the diagnostic utility of the currently recommended European Society of Cardiology (ESC) echocardiographic criteria for HF diagnosis and their relationship to natriuretic peptides. Finally, we examined the association between HF and echocardiographic criteria with mortality and cardiovascular events during follow-up. Of 116 patients with FD, 48 (41%) had symptomatic HF (mean age 58 +- 11 years, 62% male). HF with preserved ejection fraction (HF-pEF) was diagnosed in 43 (91%) patients, representing the dominant phenotype. Left ventricular mass index (LVMi) had the highest diagnostic utility (sensitivity 71% and specificity 83%) for HF diagnosis in FD, followed by E/e&apos; &gt; 9 (sensitivity 76% and specificity 78%) and global longitudinal strain (GLS) &lt;16% (sensitivity 54% and specificity 88%). Log N-terminal pro-brain natriuretic peptide correlated significantly with LVMi (r = 0.60), E/e&apos; (r = 0.54), and GLS (r = 0.52) (all Ps &lt; 0.001) but not with left ventricular ejection fraction (r = -0.034, P = 0.72). During follow-up (mean 1208 +- 444 days), patients diagnosed with HF had a higher rate of all-cause mortality and worsening HF (33% vs. 1.5%, P &lt; 0.001). Abnormal LVMi, E/e&apos; &gt; 9, and GLS &lt; 16% were all associated with higher all-cause mortality and worsening HF. Conclusions: This study found a high prevalence of symptomatic HF in FD patients. HF-pEF was the dominant phenotype. LVMi, E/e&apos;, and GLS yielded the highest diagnostic utility for HF diagnosis and were significantly correlated with natriuretic peptides levels. Echocardiographic criteria proposed by current ESC HF guidelines apply to Fabry patients and predict cardiovascular events. At follow-up, Fabry patients with HF diagnosis had high event rates and significantly worse prognosis than patients without HF.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30201 - Cardiac and Cardiovascular systems

Result continuities

  • Project

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2022

  • Confidentiality

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

Data specific for result type

  • Name of the periodical

    ESC Heart Failure [online]

  • ISSN

    2055-5822

  • e-ISSN

  • Volume of the periodical

    9

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    GB - UNITED KINGDOM

  • Number of pages

    10

  • Pages from-to

    4043-4052

  • UT code for WoS article

    000846907500001

  • EID of the result in the Scopus database

    2-s2.0-85136687699