Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease DOI Creative Commons

Alexandr Gurschenkov,

S. E. Andreeva,

V. V. Zaĭtsev

et al.

Journal of Cardiovascular Development and Disease, Journal Year: 2024, Volume and Issue: 11(9), P. 293 - 293

Published: Sept. 20, 2024

Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage nonhydrolyzed forms. Cardiovascular complications, mainly in the form HCM, contribute substantially to AFD patient mortality. Here, we report three new cases obstructive HCM (HOCM) nonclassical presentations isolated cardiac involvement. In all cases, diagnosis was made postoperatively by routine genetic morphological testing. Together with previously published this illustrates potential safety beneficial effect septal surgical myectomy patients AFD-HOCM, as well underlines need for more thorough screening clinical signs AFD-associated cardiomyopathy GLA variants among HOCM.

Language: Английский

Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications DOI Creative Commons
Hibba Kurdi,

Lucia Lavalle,

James Moon

et al.

Frontiers in Cardiovascular Medicine, Journal Year: 2024, Volume and Issue: 11

Published: June 12, 2024

Fabry disease, a multisystem X-linked disorder caused by mutations in the alpha-galactosidase gene. This leads to accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso-Gb3), culminating various clinical signs symptoms that significantly impact quality life. Although treatments such as enzyme replacement, oral chaperone, emerging therapies like gene therapy exist; delayed diagnosis often curtails their effectiveness. Our review highlights importance delineating stages inflammation disease enhance timing efficacy interventions, particularly before progression fibrosis, where treatment options are less effective. Inflammation is an important aspect pathogenesis disease. thought be predominantly mediated innate immune response, with growing evidence pointing towards potential involvement adaptive mechanisms remain poorly understood. Highlighted fact shares profiles systemic autoinflammatory diseases, blurring distinctions between these disorders highlighting need for nuanced understanding dynamics. insight crucial developing targeted improving administration current replacement. Moreover, our discusses complex interplay inflammatory processes treatments, challenges posed anti-drug antibodies. These antibodies can attenuate effectiveness therapies, necessitating more refined approaches mitigate impact. By advancing molecular changes, mediators causative factors drive we aim clarify role disease's progression. improved will help us see how fit into landscape Additionally, it guide development effective diagnostic therapeutic approaches, ultimately patient care.

Language: Английский

Citations

11
Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease DOI Open Access
Denise Cristiana Faro,

Francesco Lorenzo Di Pino,

Ines Monte

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(15), P. 8273 - 8273

Published: July 29, 2024

Anderson-Fabry disease (AFD), a genetic disorder caused by mutations in the α-galactosidase-A

Language: Английский

Citations

4
Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease DOI Creative Commons
Oriana De Marco, Jessica Gambardella, Antonino Bianco

et al.

Frontiers in Cardiovascular Medicine, Journal Year: 2024, Volume and Issue: 11

Published: May 2, 2024

Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by deficiency the lysosomal alpha-galactosidase A enzyme. This causes progressive accumulation glycosphingolipids in tissues and organs which represents main pathogenetic mechanism FD. The multisystemic characterized early symptoms late complications (renal, cardiac neurological dysfunction). Fatigue exercise intolerance are common FD patients but specific still to be defined. In this narrative review, we deal with contribution pulmonary dysfunctions determining fatigue patients.

Language: Английский

Citations

3
Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms DOI Open Access

Albert Frank Magnusen,

Manoj K. Pandey

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(22), P. 12252 - 12252

Published: Nov. 14, 2024

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the galactosidase alpha (

Language: Английский

Citations

1
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease DOI Creative Commons

Alexandr Gurschenkov,

S. E. Andreeva,

V. V. Zaĭtsev

et al.

Journal of Cardiovascular Development and Disease, Journal Year: 2024, Volume and Issue: 11(9), P. 293 - 293

Published: Sept. 20, 2024

Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage nonhydrolyzed forms. Cardiovascular complications, mainly in the form HCM, contribute substantially to AFD patient mortality. Here, we report three new cases obstructive HCM (HOCM) nonclassical presentations isolated cardiac involvement. In all cases, diagnosis was made postoperatively by routine genetic morphological testing. Together with previously published this illustrates potential safety beneficial effect septal surgical myectomy patients AFD-HOCM, as well underlines need for more thorough screening clinical signs AFD-associated cardiomyopathy GLA variants among HOCM.

Language: Английский

Citations

0