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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Fabry’s disease (FD) is a rare and hereditary disease linked to the X chromosome, caused by deficiency of the enzyme alfagalactosidase A. It presents a variable clinical and epidemiological profile, which promotes a high rate of underdiagnosis, despite the need for early treatment due to its high morbidity and mortality, especially linked to kidney and heart disease. This study aims to investigate a series of cases of a family affected by FD, genotypically identified through cascade screening, evaluating their clinical and epidemiological characteristics.
This is a study in two phases: 1 - retrospective cross-sectional, with the review of medical records at a reference center in Fortaleza, Ceará; 2 - cross-sectional study for clinical evaluation of patients and cardiac screening, electrocardiogram, echocardiogram and cardiac nuclear magnetic resonance for the evaluation of structural and functional changes, as well as collected general laboratory tests and for dosage analysis of inflammation and fibrosis biomarkers.
Fourteen patients, 3 (21.40%) male and 11 (78.60%) female were evaluated, with median age of 30.5 years. The positivity rate in the two tested family generations ranged from 54 to 69%. These patients had 6 years of symptoms, and the average age of the first symptoms was 20 years. In 71.40% the neurological system was identified as the first symptomatology, and cardiovascular in 14.30%. Palpitations (50%) were the most common CV symptom. Only one patient presented initial hypertrophic pattern. Diastolic dysfunction was present in 42.9% of the echocardiogram. Papillary muscle alterations, hypertrabeculations and mitral anomalies were the most common morphological findings for NMR. Among the biomarkers, VCAM-1 was considerably higher in relation to the control group (p<0.001) and was slightly elevated in patients with ventricular remodeling/HVE (p=0.045). No patient had clinically evident kidney disease.
This study allowed detecting a high number of patients in the same family, at a young age, with reduced time of disease and pre-presentation hypertrophic heart disease, and significant abnormality in the levels of VCAM-1, which marks endothelial dysfunction and possible subclinical kidney disease, pointing to a possible novel criteria for early treatment start.
