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REVIEW article

Front. Cardiovasc. Med.
Sec. Hypertension
Volume 11 - 2024 | doi: 10.3389/fcvm.2024.1467815
This article is part of the Research Topic Target Organ Damage in Fabry Disease View all 10 articles

Role of standard-echocardiography in Anderson-Fabry disease

Provisionally accepted
Maddalena Conte Maddalena Conte 1*Giuseppe Cioffi Giuseppe Cioffi 1Maria Grazia Romeo Maria Grazia Romeo 1Laura Petraglia Laura Petraglia 1Erika Parente Erika Parente 1Paolo Poggio Paolo Poggio 2,3veronika myasoedova veronika myasoedova 2Vincenzo Russo Vincenzo Russo 4Raffaella Lauro Raffaella Lauro 1Roberta Accardo Roberta Accardo 1Dario Leosco Dario Leosco 1Valentina Parisi Valentina Parisi 1
  • 1 University of Naples Federico II, Naples, Italy
  • 2 Monzino Cardiology Center (IRCCS), Milan, Lombardy, Italy
  • 3 Department of Biomedical, Surgical and Dental Sciences, Faculty of Medicine and Surgery, University of Milan, Milan, Lombardy, Italy
  • 4 Department of Translational Medical Sciences, University of Campania Luigi Vanvitelli, Naples, Campania, Italy

The final, formatted version of the article will be published soon.

    Cardiac involvement strongly impacts on prognosis in Anderson-Fabry disease (AFD) patients. All cardiac structures, such as the left ventricle and the left atrium, the aorta, the right sections and the heart valves can be affected by morphological and functional abnormalities. Standard echocardiography has a crucial role in the characterization of AFD-cardiomyopathy. Being a diffuse, non-invasive, easily reproducible and inexpensive investigation, echocardiography represents the most appropriate tool for screening AFD-cardiomyopathy. Furthermore, echocardiographic evaluation is the essential imaging method to support the physician also in the follow-up and risk stratification of AFD patients. Therefore, echocardiography is useful in all stages of the disease; both in the pre-clinical stage, to reveal the first signs of cardiac involvement and to guarantee timely treatment; both to estimate the extent of cardiac involvement, define possible complications and evaluate the response to treatment in patients with established cardiomyopathy. The latest advanced echocardiographic techniques, such as speckle tracking analysis, are offering new insights into the early detection of AFD-cardiac involvement, thus suggesting a promising role for echocardiography in selecting appropriate candidates for treatment. In this review we will examine the role of standard echocardiography in AFD, focusing on its use in screening for cardiac involvement, detailed characterization of AFD cardiomyopathy, and risk stratification of AFD patients.

    Keywords: Anderson-Fabry disease, Echocardiography, cardiomyopathy, risk stratification, cardiac imaging

    Received: 20 Jul 2024; Accepted: 08 Oct 2024.

    Copyright: © 2024 Conte, Cioffi, Romeo, Petraglia, Parente, Poggio, myasoedova, Russo, Lauro, Accardo, Leosco and Parisi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Maddalena Conte, University of Naples Federico II, Naples, Italy

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.