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Anderson–Fabry Disease and the Heart
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Anderson–Fabry Disease and the Heart

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 6877

Special Issue Editor

Dr. Roberta  Esposito

E-Mail Website
Guest Editor
Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy
Interests: cardiovascular disease; echocardiography; storage disease; strain imaging; cardiotoxicity; hypertension; 3D echocardiography

Special Issue Information

Dear Colleagues,

Anderson–Fabry disease (AFD) is a rare X-linked metabolic disorder due to deficiency in lysosomal enzyme activity of α-galactosidase A (α-GAL), with pathological accumulation of glycosphingolipids in several tissues, inducing a multi-organ progressive dysfunction. Together with Gaucher’s disease, it is one of the most prevalent metabolic storage diseases. AFD patients may frequently develop cardiac involvement, such as rhythm and conduction disturbances, and progressive hypertrophic cardiomyopathy. Early diagnosis is now of utmost importance because some disease manifestations (such as AFD-related cardiomyopathy) can be modified with enzyme replacement therapy (ERT). ERT is available and well-tolerated; however, there is currently no robust evidence for the use of either agalsidase alfa or beta to treat AFD.

Early diagnosis and treatment of cardiac involvement is clearly also a crucial aspect of affected family member management. The contribution of electrocardiography and of cardiovascular imaging techniques (echocardiography, nuclear techniques, cardiac computed tomography, cardiovascular magnetic resonance) is fundamental for screening and diagnosis and for the evaluation of disease progression and the effectiveness of ERT.

This Special Issue of the Journal of Clinical Medicine will focus on the strategies/approaches that have been demonstrated to be effective in early diagnosis, risk stratification, and treatment follow-up of cardiovascular involvement in AFD.

Dr. Roberta  Esposito
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Anderson–Fabry disease
  • cardiovascular disease
  • metabolic storage disease
  • hypertrophic cardiomyopathy
  • electrocardiography
  • echocardiography
  • nuclear techniques
  • cardiac computed tomography
  • cardiovascular magnetic resonance

Published Papers (2 papers)

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Research

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12 pages, 3470 KiB  
Article
Value of Left Ventricular Feature Tracking Strain Analysis for Detection of Early Cardiac Involvement in Fabry Disease (FD)
by Fritz Christian Roller, Alexander Brose, Martin Richter, Armin Schüssler, Sebastian Harth, Christian Tanislav and Gabriele Anja Krombach
J. Clin. Med. 2021, 10(16), 3734; https://doi.org/10.3390/jcm10163734 - 22 Aug 2021
Cited by 5 | Viewed by 2065
Abstract
Purpose: Detection of cardiac involvement in Fabry disease (FD) is of high importance for treatment management. Native T1 mapping especially showed great potential for detection of early cardiac manifestations. Echocardiographic studies showed strain abnormalities in FD patients, but data on MRI feature tracking [...] Read more.
Purpose: Detection of cardiac involvement in Fabry disease (FD) is of high importance for treatment management. Native T1 mapping especially showed great potential for detection of early cardiac manifestations. Echocardiographic studies showed strain abnormalities in FD patients, but data on MRI feature tracking strain analysis (FT-SA) is limited. Therefore, the aim of our study was to evaluate the potential of FT-SA compared to native T1 and the FD specific biomarker Globotriaosylsphingosine (LysoGb3). Methods: 28 consecutive FD patients (18 female; 47.8 years ± 17.4 standard deviation (SD)) and 28 control subjects (18 female; 46.6 years ± 18.2 SD) underwent cardiac MRI at 1.5 Tesla. Global native T1 times and left ventricular FT-SA were evaluated. Results were correlated to serum Lyso-Gb3-levels. Results: Native T1 times, global longitudinal (GLS) and global radial strain (GRS) were significantly reduced in FD patients (p < 0.0064, p = 0.0009 and p = 0.0184, respectively). Moreover, native T1 times and GLS were significantly lower in Lyso-Gb3 positive FD patients (p < 0.005 and p = 0.03). GLS, native T1 times showed significant moderate correlations to LysoGb3 (p = 0.002 and p < 0.001). Furthermore, GLS and native T1 times reduce when LysoGb3 was elevated and increasingly with presence of left ventricular hypertrophy (LVH) or late gadolinium enhancement (LGE). Conclusions: Native T1 times and strain values differ significantly between FD patients and control subjects and showed promising correlations to the FD specific biomarker LysoGb3. We therefore conclude that strain abnormalities occur early beside native T1 reductions in cardiac FD involvement. Large scale trials are needed to verify our findings. Full article
(This article belongs to the Special Issue Anderson–Fabry Disease and the Heart)
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Review

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16 pages, 2639 KiB  
Review
Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future
by Roberta Esposito, Ciro Santoro, Giulia Elena Mandoli, Vittoria Cuomo, Regina Sorrentino, Lucia La Mura, Maria Concetta Pastore, Francesco Bandera, Flavio D’Ascenzi, Alessandro Malagoli, Giovanni Benfari, Antonello D’Andrea and Matteo Cameli
J. Clin. Med. 2021, 10(9), 1994; https://doi.org/10.3390/jcm10091994 - 6 May 2021
Cited by 8 | Viewed by 4105
Abstract
Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated [...] Read more.
Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced cardiovascular imaging in Anderson-Fabry disease. Full article
(This article belongs to the Special Issue Anderson–Fabry Disease and the Heart)
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