Background: Transthyretin amyloidosis (ATTR) is a multisystem disease caused by the deposition of fibrillar protein in organs and tissues. ATTR genotypes and phenotypes are highly heterogeneous. We present data on physical signs and symptoms, cardiac and neurological assessments and genetic profile of patients enrolled in the Transthyretin Cardiac Amyloidosis Registry of the State of São Paulo, Brazil. Results: Six hundred-forty-four patients were enrolled, 505 with the variant form (ATTRv) and 139 with wild-type (ATTRwt). Eleven different mutations were detected, the most common being Val50Met (47.5%) and V142Ile (39.2%). Overall, more than half of the patients presented cardiac involvement, and the difference in this proportion between the ATTRv and ATTRwt groups was significant (43.9 vs. 89.9%; p < 0.001). The prevalence of the neurological phenotype also differed between ATTRv and ATTRwt (56.8 vs. 31.7%; p < 0.001). The mixed phenotype was found in 25.6% of the population, without a significant difference between ATTRv and ATTRwt groups. A group of patients remained asymptomatic (10.4%), with a lower proportion of asymptomatic ATTRwt patients. Conclusions: This study details the clinical and genetic spectrum of patients with ATTR in São Paulo, Brazil. This preliminary analysis highlights the considerable phenotypic heterogeneity of neurological and cardiac manifestations in patients with variant and wild-type ATTR.

Transthyretin amyloidosis (ATTR amyloidosis) is characterized by the buildup of amyloid protein in organs like the gut and the heart. As a result, hypoperfusion, edema, and dysautonomia cause an imbalance in the gut microbiome. We aimed to identify the gut microbiome composition in ATTR amyloidosis patients with and without heart involvement, as well in controls. Sixty participants were divided into three groups: 20 with ATTR amyloidosis and heart involvement (G1), 19 with ATTR amyloidosis but no heart disease (G2), and 21 controls (G3). The microbiome profiles were obtained through 16S rRNA gene sequencing. Additional evaluations included a clinical questionnaire, echocardiogram, six-minute walk tests, troponin, BNP, and genotype analysis. Compared to G3, G1, and G2 groups had different levels of Streptococcus, Lachnospiraceae, and Sellimonas, while the controls showed a higher relative abundance of Methanosphaera. Streptococcus was linked to higher troponin levels. Lachnospiraceae was associated with lower BNP levels and smaller left atrium volumes. Sellimonas was associated with a higher intestinal symptom score, while Methanosphaera with a lower symptom score. ATTR amyloidosis patients have a different intestinal microbiome profile compared to the control group. There were correlations with genotype, gastrointestinal symptoms, heart failure biomarkers, echocardiographic parameters, and the six-minute walk test.

Background: In transthyretin amyloid cardiomyopathy (ATTR-CM), the assessment of functional capacity is of great importance. A distance < 300m covered in the 6-minute walk test (6MWT) is linked to a poorer prognosis in heart failure (HF) patients. However, in ATTR-CM, this association is not well-established, particularly among its various presentations and variants. Objectives: To evaluate functional capacity and, the prognostic value of the 6MWT in patients with ATTR-CM and to identify their clinical characteristics according to the type of [...] Abstract Background: In transthyretin amyloid cardiomyopathy (ATTR-CM), the assessment of functional capacity is of great importance. A distance < 300m covered in the 6-minute walk test (6MWT) is linked to a poorer prognosis in heart failure (HF) patients. However, in ATTR-CM, this association is not well-established, particularly among its various presentations and variants. Objectives: To evaluate functional capacity and, the prognostic value of the 6MWT in patients with ATTR-CM and to identify their clinical characteristics according to the type of

Background Hypertrophic cardiomyopathy (HCM) presents echocardiographic abnormalities that are important for diagnosis and prognosis. Data are scarce in the Brazilian literature. Objective To assess clinical and echocardiographic characteristics and disease progression in a Brazilian cohort of patients with HCM. Methods This retrospective cohort included patients with HCM aged ≥ 18 years. Patients with moderate or severe aortic stenosis and those undergoing septal reduction were excluded. The significance level adopted in the statistical analysis was 5%. Results The study included 1244 patients, between 2010 and 2022, with a mean follow-up time of 7.7 ± 4.5 years; 53.6% of patients were men. Mean age was 54.6 ± 16.5 years, and mean left ventricular ejection fraction (LVEF) was 65.8% ± 7.6. We observed LVEF ≤ 50% in 5.8% of patients, asymmetric form in 88.7%, and septal hypertrophy in 85.4%. We found systolic anterior motion of the mitral valve in 30.1% of patients, left ventricular outflow tract obstruction in 30.7%, and septum ≥ 28 mm in 7.2%. Only 1 patient had ventricular aneurysm. Atrial fibrillation/flutter occurred in 9.6% of patients. Overall mortality occurred in 232 patients (1.3%/year). Patients with B-type natriuretic peptide (BNP) > 200 pg/ml, left atrium ≥ 45 mm, and LVEF ≤ 50% had higher mortality (p < 0.001). Age and atrial fibrillation/flutter were also associated with mortality. Conclusions The majority of patients had LVEF > 50%, asymmetric hypertrophy, and septal predominance. BNP, LA diameter, LVEF ≤ 50%, age, and atrial fibrillation/flutter were associated with worse prognosis.

Resumo Fundamento A cardiomiopatia hipertrófica (CMH) apresenta alterações ecocardiográficas importantes para diagnóstico e prognóstico. Os dados da literatura nacional são escassos. Objetivo Avaliar, em uma coorte brasileira de pacientes com CMH, as características clínicas, ecocardiográficas e a evolução da doença. Métodos Coorte retrospectiva de pacientes com CMH e idade ≥ 18 anos. Foram excluídos pacientes com estenose aórtica moderada ou importante e aqueles submetidos à redução septal. O nível de significância adotado na análise estatística foi de 5%. Resultados Foram incluídos 1244 pacientes, entre os anos de 2010 e 2022, com tempo médio de seguimento de 7,7 anos ± 4,5, sendo 53,6% homens. A idade média foi de 54,6 anos ± 16,5, e a fração de ejeção do ventrículo esquerdo (FEVE) média foi de 65,8% ± 7,6. A FEVE ≤ 50% foi observada em 5,8% dos pacientes, a forma assimétrica em 88,7% e a hipertrofia septal em 85,4%. Movimento sistólico anterior da valva mitral foi encontrado em 30,1% dos pacientes, obstrução da via de saída do ventrículo esquerdo em 30,7% e septo ≥ 28 mm em 7,2%. Apenas 1 paciente apresentou aneurisma ventricular. Fibrilação/flutter atrial ocorreu em 9,6% dos pacientes. A mortalidade geral ocorreu em 232 pacientes (1,3%/ano). Pacientes com peptídeo natriurético tipo B (BNP) > 200 pg/ml, átrio esquerdo ≥ 45 mm e FEVE ≤ 50% apresentaram maior mortalidade (p < 0,001). Além disso, idade e fibrilação/flutter atrial também foram relacionadas com mortalidade. Conclusões A maioria dos pacientes apresentava FEVE > 50%, hipertrofia assimétrica e predomínio septal. BNP, diâmetro do AE, FEVE ≤ 50%, idade e fibrilação/flutter atrial foram associados com pior prognóstico.

Amiloidose se refere a um conjunto de doenças causadas pelo depósito de fragmentos anômalos de diferentes proteínas. O coração é um dos principais órgãos afetados, nas formas mais comuns de amiloidose, com os pacientes apresentando mau prognóstico e sobrevida curta, conforme o grau de acometimento. Embora considerada uma afecção rara, vários trabalhos têm demonstrado um aumento expressivo no número de diagnósticos nos últimos anos. Tem contribuído para isso o maior arsenal diagnóstico não invasivo, com novas ferramentas de avaliação mais específicas em exames já consagrados na prática clínica diária, como o ecocardiograma, a cintilografia com marcadores ósseos e a ressonância magnética cardíaca. A disseminação do conhecimento da doença e dos seus sinais de alerta, e o surgimento de diretrizes da doença, associados à chegada de novos tratamentos medicamentosos, têm mudado a história natural desses pacientes. A diminuição da jornada até o diagnóstico e tratamento tem permitido aumento da sobrevida e da qualidade de vida desses pacientes