Article

Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection Fraction

2023-12-11

Abstract excerpt

<h4>Background</h4> While cardiovascular complications are the most common cause of mortality in Fabry disease, the relationship between globotriaosylceramide (GL-3) accumulation, the hallmark of Fabry cardiomyopathy, and cardiac hypertrophy has not been fully elucidated. <h4>Methods</h4> We developed unbiased stereology protocols to quantify the ultrastrcture of Fabry cardiomyopathy. Endomyocardial biopsies from...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 646254fd-5746-5aa6-bee1-c84fcc8d059a
DOI: 10.1101/2023.12.09.23298489

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cardiomyocyte Globotriaosylceramide Accumulation in Adult Male Patients with Fabry Disease and IVS4 + 919G>A GLA Mutation is Progressive with Age and Correlates with Left Ventricular Hypertrophy and Reduced Left Ventricular Ejection FractionDOI 10.1101/2023.12.09.23298489Read

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

Fabry disease cardiomyopathy: A state-of-the-art review.Semantic proximity Read

Fabry disease cardiomyopathy: A practical guide for cardiologists.Semantic proximity Read

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.Semantic proximity Read

Nucleoside-Modified mRNA Encoding Alpha-Galactosidase A Reverses Fabry Disease Phenotypes in Human IPSC-Derived CardiomyocytesSemantic proximity Read

Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion BodiesSemantic proximity Read

Effective clearance of GL-3 in a human iPSC-derived cardiomyocyte model of Fabry disease.Semantic proximity Read

Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.Semantic proximity Read

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.Semantic proximity Read

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).Semantic proximity Read

α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.Semantic proximity Read

New insights in cardiac structural changes in patients with Fabry's disease.Semantic proximity Read