Severe Late-Onset Fabry Cardiomyopathy Unmasked by a Multimodality Imaging Approach

Visoiu, Ionela-Simona; Ciobanu, A.; Nicula, Alina Ioana; Iascone, Maria; Jurcuţ, Ruxandra; Vinereanu, Dragoş; Rimbaş, Roxana Cristina

doi:10.1161/circimaging.119.009709

Cited by 1 publication

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“…Cardiac involvement may be the predominant feature in some late-onset phenotypes. These phenotypes, commonly designated by some authors as "cardiac variants" of FD, have been described in association to the GLA mutations p.F113L [4,5,146], p.N215S [147][148][149][150], IVS4+919G>A [151], p.A20P [152], p.I91T [146], p.N139S [153], p.I232T [154], p.I239M [155], p.Q279E [156,157], p.M296I [152,158], p.M296V [159], p.R301Q [156,157,160], and p.G328R [161]. Some of these mutations are very common and, despite their widespread distribution around the world, they occur in large clusters in specific geographical areas, such as the IVS4+919G>A mutation in Taiwan, the p.N215S mutation in the United Kingdom, and the p.F113L mutation in the Portuguese region of Guimarães.…”

Section: Late-onset Phenotypes With Predominant Cardiac Involvement ("Cardiac Variants")mentioning

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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