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Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping

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Abstract

In Anderson-Fabry disease (FD), we sought to evaluate relation between left ventricular (LV) hypertrophy, longitudinal strain (LS), myocardial T1 mapping and cardiopulmonary exercise parameters, and their prognostic value in term of cardiovascular outcomes. In this prospective, observational, monocentric study called “FABRY-Image”, we evaluated consecutive adult FD patients by echocardiography, cardiac magnetic resonance, and cardiopulmonary exercise testing. We investigated regional LS, the relations between LV hypertrophy, LS, T1 mapping, and VO2 peak and VE/VCO2, and the prediction of cardiovascular events during follow-up. From 2016 to 2019, we included 35 FD patients (44 ± 17 years, 40% male), that were compared with 20 controls. In FD patients, global, basal and mid-LV LS, as well as mean T1 were significantly altered compared to controls (p < 0.05) with relative apical LS sparing. LV wall thickness was particularly related to mean of basal LS (r =  − 0.73), to T1 (r =  − 0.48), and to VE/VCO2 (r = 0.45). Mean of basal LS was well related to myocardial T1 (r = 0.59). A good relation was observed between VO2 peak and global LS (r = 0.39) while VE/VCO2 slope was more related to maximal LV wall thickness (r = 0.45), and T1 (r =  − 0.61). During a median follow-up of 2.4 years, 6/31 patients presented de novo atrial fibrillation or stroke. In Cox univariate analyses, LV wall thickness, basal LS, T1 value, and VE/VCO2 were significantly predictive of occurrence of de novo atrial fibrillation or stroke (p < 0.05). Our study shows an apical LS sparing in FD patients as observed in amyloidosis, and a close relation between LV hypertrophy, LS, T1 mapping, and VE/VCO2 which are all associated to the occurrence of de novo atrial fibrillation or TIA/stroke during follow-up. These results need to be confirmed by future multicentric studies.

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Abbreviations

BLS:

Mean of basal longitudinal strains

FD:

Fabry disease

GLS:

Global longitudinal strain

HR:

Hazard ratio

LGE:

Late gadolinium enhancement

LV:

Left ventricle

LVH:

Left ventricular hypertrophy

NYHA:

New York Heart Association

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Acknowledgments

This study was performed with the financial support of Shire® France.

Author information

Authors and Affiliations

  1. Bordeaux University Hospital, 33000, Bordeaux, France

    Patricia Réant, Emilie Testet, Amélie Reynaud, Catherine Bourque, Matthieu Michaud, Caroline Rooryck, Cyril Goizet, Didier Lacombe, Valérie de-Précigout, Jérôme Peyrou, Hubert Cochet & Stéphane Lafitte

  2. University of Bordeaux, 33000, Bordeaux, France

    Patricia Réant, Emilie Testet, Matthieu Michaud, Caroline Rooryck, Cyril Goizet, Didier Lacombe, Hubert Cochet & Stéphane Lafitte

  3. IHU Lyric, 33600, Bordeaux-Pessac, France

    Patricia Réant, Caroline Rooryck, Hubert Cochet & Stéphane Lafitte

  4. CIC 1401, 33600, Bordeaux-Pessac, France

    Patricia Réant, Amélie Reynaud & Stéphane Lafitte

  5. INSERM 1045, Bordeaux, France

    Patricia Réant

  6. INSERM 1211, Bordeaux, France

    Caroline Rooryck, Cyril Goizet & Didier Lacombe

  7. Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, Canada

    Catherine Bourque

  8. Hopital Cardiologique Haut-Leveque, Avenue de Magellan, 33604, Pessac, France

    Patricia Réant

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  1. Patricia Réant
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  2. Emilie Testet
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Correspondence to Patricia Réant.

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Financial support of Shire® France for data collection.

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Réant, P., Testet, E., Reynaud, A. et al. Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imaging 36, 1333–1342 (2020). https://doi.org/10.1007/s10554-020-01823-7

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  • DOI: https://doi.org/10.1007/s10554-020-01823-7

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