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• W4387362400 abstract "Abstract Disclosure: E. Shemesh: None. R. Rusk: None. P. Feigin: None. P. Deegan: None. Background: Fabry disease (FD) (OMIM 301500) is a rare x-linked metabolic disorder. Cardiovascular involvement in this rare metabolic disorder is common, including hypertrophy, fibrosis, heart failure and arrythmias. Troponin concentrations are often continuously elevated in FD patients, which at times may lead to false assumptions and unnecessary invasive investigations. Furthermore, while nt-proBNP, another cardiac biomarker, is regarded by some as a valuable biomarker in FD, its concentrations might be falsely high due to renal involvement in the disease. We sought to explore the associations between these cardiac biomarkers with myocardial architecture and clinical outcomes in patients with FD. Hypothesis: Biomarkers in FD associate similarly with myocardial architecture and clinical outcomes. Results: 107 patients from a tertiary referral center in the United Kingdom were included in this study. Mean age at first visit was 44.5±17 years. Study population was composed of 40 males and 67 females. Twenty males and 43 females carried a classic mutation. At baseline, 27% had elevated troponin concentrations and 30% of patients had elevated nt-proBNP concentrations. Throughout follow-up, 17 cardiac-related hospitalizations were recorded, and 12 cardiac-related deaths occurred. While troponin and nt-proBNP concentrations at baseline were closely related (r= 0.5, p &lt; 0.05), distinct associations with future occurrence of cardiac architecture pathologies were noted: elevated troponin concentrations associated with presence of late gadolinium enhancement and left ventricular hypertrophy in a statistically significant manner (late gadolinium enhancement: r=0.54, p&lt;0.05; hypertrophy: r-0.45, p&lt;0.05), but nt-proBNP did not. However, both biomarkers associated with adverse clinical outcomes, and nt-proBNP displayed stronger correlation with future heart failure events than troponin (r= 0.52, p&lt;0.05 vs r=0.3, p&lt;0.05). Neither troponin nor nt-proBNP baseline concentrations associated with the implantation of cardiac device (defibrillator or pacemaker). Conclusions: Cardiac biomarkers associate differently with myocardial architecture pathologies, but similarly with clinical outcomes in FD. Our results imply distinct roles for troponin and nt-proBNP in adverse cardiac events in FD. Presentation: Friday, June 16, 2023" @default.
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• W4387362400 date "2023-10-01" @default.
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• W4387362400 title "FRI119 Cardiac Biomarkers In Fabry Disease Exhibit Distinct Associations With Cardiovascular Outcomes: A (Rare) Prism For Cardiovascular Endocrinology" @default.
• W4387362400 doi "https://doi.org/10.1210/jendso/bvad114.632" @default.
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