Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G&gt;A Mutation: Data from the Fabry Outcome Survey

Hsu, Ting-Rong; Chang, Fu Pang; Chu, Tzu Hung; Sung, Shih Hsien; Bizjajeva, Svetlana; Yu, Wen Chung; Niu, Dau Ming

doi:10.3390/ijms18010119

Cited by 9 publications

(6 citation statements)

References 18 publications

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“…The evaluation of ERT efficacy in the late-onset phenotypes with predominant cardiac involvement has been limited to a few small studies in the IVS4+919G>A mutation. In these patients, a significant negative correlation has been described between ERT duration and GB3 accumulation in cardiomyocytes and cardiomyocyte size [ 189 ]. In patients under ERT for more than 3 years, GB3 deposits were not found in cardiomyocytes [ 170 ].…”

Section: Cardiac Treatment In Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. In the last years, knowledge has substantially evolved on the pathophysiological mechanisms leading to cardiac damage, the natural history of cardiac manifestations, the late-onset phenotypes with predominant cardiac involvement, the early markers of cardiac damage, the role of multimodality cardiac imaging on the diagnosis, management and follow-up of Fabry patients, and the cardiac efficacy of available therapies. Herein, we provide a comprehensive and integrated review on the cardiac involvement of FD, at the pathophysiological, anatomopathological, laboratory, imaging, and clinical levels, as well as on the diagnosis and management of cardiac manifestations, their supportive treatment, and the cardiac efficacy of specific therapies, such as enzyme replacement therapy and migalastat.

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Section: Cardiac Treatment In Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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“…The presence of fibrosis can be assessed by the amount and distribution of the LGE after gadolinium-based contrast agents administration. Replacement fibrosis is considered a sign of disease progression [ 77 ] and may precede the onset of LVH, particularly in females [ 78 , 79 , 80 ]. Accordingly, by LGE-CMR imaging, fibrosis has been found in both AFD patients with and without LV hypertrophy.…”

Section: Tissue Characterizationmentioning

confidence: 99%

Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future

Esposito

Santoro

Mandoli

et al. 2021

JCM

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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.

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“…FOS has also enabled the study of cardiovascular events in patients with atypical FD (e.g., patients with ISV4 mutations) [ 9 , 10 ]. Compared with patients with classic FD, male (but not female) patients with ISV4 mutations were significantly older when their LVH was initially diagnosed, but no age differences were apparent for other cardiovascular diagnoses [ 10 ].…”

Section: Design History and Evolution Of Fosmentioning

confidence: 99%

“…Endomyocardial biopsy data for 30 patients with ISV4 mutations enrolled in FOS showed that a longer duration of ERT was associated with lower Gb3 accumulation and smaller cardiomyocytes, suggesting a possible impact of ERT on the pathophysiology of the disease. The correlation between Gb3 accumulation and LVMI was statistically significant, but moderate, likely because of the small number of biopsies evaluated [ 9 ]. In addition, retrospective study data showed that there is a reduced risk of thromboembolic events in patients with FD on ERT [ 49 ].…”

Section: Design History and Evolution Of Fosmentioning

confidence: 99%

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Beck¹,

Ramaswami

Hernberg‐Ståhl³

et al. 2022

Orphanet J Rare Dis

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Background Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD. Results FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding in future rare disease real-world evidence studies. Conclusion FOS over the last 20 years has substantially increased the scientific knowledge around improved patient management of FD and continues to expand our understanding of this rare disease.

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Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey

Cited by 9 publications

References 18 publications

Fabry Disease and the Heart: A Comprehensive Review

Fabry Disease and the Heart: A Comprehensive Review

Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

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