HU - RC - Trabalho de Conclusão de Residência (TCR)

URI Permanente para esta coleçãohttps://repositorio.univasf.edu.br/handle/123456789/1323

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    Análise do perfil epidemiológico, clínico e genético da amiloidose por transtirretina no interior de Pernambuco
    (Universidade Federal do Vale do São Francisco, 2026-07-19) Queiroz, Ana Júlia dos Santos; Armstrong, Anderson da Costa
    Transthyretin amyloidosis (ATTR) is a systemic disease caused by extracellular deposition of amyloid fibrils derived from the transthyretin protein, occurring in hereditary (ATTRv) and wild-type (ATTRwt) forms. Despite recent therapeutic advances, ATTR remains underdiagnosed, especially in regions with limited epidemiological data, such as the inland areas of Northeastern Brazil. This study aimed to characterize the epidemiological, clinical, and genetic profile of patients with ATTR treated at the rare diseases outpatient clinic of UNIVASF, located in Petrolina, Pernambuco, Brazil. This was a retrospective, observational, cross-sectional analytical study including 207 patients evaluated between January 2022 and August 2025. Patients were stratified into TTR-positive (n = 85) and non-TTR (n = 122) groups. Pearson’s chi-square and Mann–Whitney tests were applied, considering statistical significance at p < 0.05. The mean age was 54.4 ± 23.2 years, with a slight female predominance (51.2%). The Val142Ile mutation was identified in 97.7% of TTRpositive cases. The predominant phenotypes were mixed (50%), cardiac (25%), and neurological (25%). Significant associations were observed between TTR positivity and age (p = 0.04), sex, mutation type, and clinical phenotype (p < 0.05). Only 14.11% of patients were receiving tafamidis therapy. A possible regional cluster was identified in the municipalities of Cabrobó, Salgueiro, and Petrolina. The predominance of the Val142Ile mutation and the identification of possible geographic aggregation reinforce the need for active screening strategies and strengthening of specialized regional centers for the diagnosis and management of ATTR in inland Northeastern Brazil.
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    Associação entre padrões pressóricos de 24 h e remodelamento cardíaco ao ecocardiograma em pacientes com insuficiência cardíaca de ejeção reduzida: subanálise do estudo IMPACT-HF
    (2026-05-27) Diniz Junior, Edvaldo Alves; Armstrong, Anderson da Costa
    This research is a cross-sectional, descriptive, and exploratory analytical study of patients with heart failure with reduced ejection fraction (LVEF < 40%) included in the IMPACT-HF study, who underwent ambulatory blood pressure monitoring (ABPM) and echocardiography before the start of the intervention. The recruitment period was from September 2024 to February 2026, totaling a sample size of 21 patients with a mean age of 52.4 ± 9.0 years, predominantly male (66.7%; 95% CI: 46.4% – 86.9%). Its objective is to correlate ABPM blood pressure patterns with echocardiographic phenotypes in this group of patients, in order to evaluate the association between ABPM patterns and echocardiographic markers of remodeling. To assess the associations between the qualitative variables of ABPM and the echocardiographic domains, the Chi-square test of independence or, preferably, Fisher's exact test was applied, with the level of statistical significance set at 5% (p < 0.05) for all tests performed. The data obtained revealed a negative correlation between the percentage of nocturnal decrease in systolic blood pressure and the E/A ratio (r = -0.527; p = 0.017), highlighting that the "Non-Dipper" and "Riser" patterns are associated with worsening diastolic dysfunction indices and increased filling pressures of the cardiac chambers. The "Non- Dipper" pattern was also associated with ventricular remodeling, accounting for 40% of all cases of hypertrophy and chamber dilation. Altered systolic pressure load (≥ 20%) showed a strong positive association with relative left ventricular wall thickness (r = 0.557; p = 0.009) and an inverse association with indexed end-diastolic volume (r = -0.502; p = 0.020), relating increased pressure load to myocardial thickening and consequent restriction of the ventricular cavity's dilation and accommodation capacity. Finally, this study did not correlate a more stringent blood pressure target (SBP < 120 mmHg) with echocardiographic worsening in this patient profile.