Perfil genético, clínico e epidemiológico de pacientes com diagnóstico de Amiloidose Cardíaca por Transtirretina em um ambulatório de cardiomiopatias

Abstract

Introduction: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease in the world, characterized by myocardial hypertrophy, and is related to mutations in sarcomeric genes. Some diseases, such as transthyretin amyloidosis (ATTR), mimic HCM, but their pathogenesis is due to inadequate protein folding, resulting in the deposition of amyloid monomers in the myocardium. Objective: To describe the clinical, epidemiological, and genetic profile of patients with a molecular diagnosis of ATTR. Method: Observational, prospective case series study of patients from a cardiogenetics outpatient clinic, from 2021 to 2024, who met the criteria for HCM and underwent genetic testing with a specific panel for cardiomyopathies. The data were expressed as the mean as a measure of central tendency and as the standard deviation (±) as a measure of dispersion. Results: 200 patients were evaluated, 138 (69%) had a negative genetic test, 31% (62) had a positive test, of which 48 (24%) had mutations in sarcomeric genes for HCM and 14 (7%) in genes associated with phenocopies, of which 13 (6.5%) had a mutation in the TTR gene. Conclusion: The prevalence of ATTR in patients with initial suspicion of HCM was higher than in the literature, with a predominance of males. Most patients (76%) were 60 years of age or older. The only pathogenic variant found was p.Val142Ile and 3 extracardiac manifestations were reported. This work indicates a possible underdiagnosis of ATTR in Sergipe and underlines the need for more research on the relationship between genetic variants.