A5041526387- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Trypanosoma species research and implications
- Viral Infections and Immunology Research
- Congenital Heart Disease Studies
- Cardiovascular Effects of Exercise
- Williams Syndrome Research
- Cardiac Arrhythmias and Treatments
- Macrophage Migration Inhibitory Factor
- Congenital heart defects research
- Galectins and Cancer Biology
- Cardiovascular Syncope and Autonomic Disorders
- Heart Rate Variability and Autonomic Control
- Pericarditis and Cardiac Tamponade
- Obstructive Sleep Apnea Research
- Myasthenia Gravis and Thymoma
- Eosinophilic Disorders and Syndromes
- Lysosomal Storage Disorders Research
- Vascular anomalies and interventions
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Studies on Chitinases and Chitosanases
- Cardiovascular Disease and Adiposity
- Neonatal and fetal brain pathology
- Cardiac Imaging and Diagnostics
Universidade de São Paulo
2012-2025
Universidade Brasil
2024-2025
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2018-2024
Hospital do Coração
2012
Identifying the patients with hypertrophic cardiomyopathy (HCM) in whom risk of sudden cardiac death (SCD) justifies implantation a cardioverter-defibrillator (ICD) primary prevention remains challenging. Different stratification and criteria are used by European American guidelines this setting. We sought to evaluate role cardiovascular magnetic resonance (CMR) late gadolinium enhancement (LGE) improving these strategies. conducted multicentric retrospective analysis HCM who underwent CMR...
Background Although atrial fibrillation (AF) is common in hypertrophic cardiomyopathy (HCM) patients, the relationship between genetic variation and AF has been poorly defined. Characterizing subtypes of HCM their associations with may help to improve personalized medical care. We aimed investigate link sarcomeric gene incident patients. Methods Results Patients from multinational Sarcomeric Human Cardiomyopathy Registry were followed for AF. Those likely pathogenic or variants genes...
Hypertrophic cardiomyopathy (HC) is the most prevalent genetic cardiac disease caused by a mutation in sarcomeres, Z-disks, or calcium-handling genes and characterized unexplained left ventricular hypertrophy. The aim of this study was to determine profile Brazilian patients with HC correlate genotype phenotype.We included 268 index from São Paulo city 3 other cities Brazil extracted their DNA whole blood. We amplified coding sequencing MYH7, MYBPC3, TNNT2 sequenced them an automatic...
1. Introduction Scientific knowledge of hypertrophic cardiomyopathy (HCM) has significantly improved in the past decades. A better understanding its pathogenesis, significant advances use imaging methods, and more common application genetic analysis, addition to a characterization natural history this myocardial disease, have profoundly reformulated clinical prognostic significance. Conversely, these processes were accompanied by development new medications addressing molecular mechanisms...
Abstract Fabry disease (FD) is an X-linked genetic condition caused by variants in the GLA gene causing enzyme α-galactosidase A deficiency and accumulation of globotriaosylceramide (Gb3) tissues such as heart, kidneys, nervous system. This study reports a case series patients with FD, highlighting phenotypic diversity disease, which can be confused other cardiological conditions. When properly indicated, evaluation, combined biomarker dosage enzymatic activity, key for accurate diagnosis....
Abstract Background Hypertrophic cardiomyopathy (HCM) presents echocardiographic abnormalities that are important for diagnosis and prognosis. Data scarce in the Brazilian literature. Objective To assess clinical characteristics disease progression a cohort of patients with HCM. Methods This retrospective included HCM aged ≥ 18 years. Patients moderate or severe aortic stenosis those undergoing septal reduction were excluded. The significance level adopted statistical analysis was 5%....
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, a evolução doença. Métodos Coorte retrospectiva CMH idade ≥ 18 anos. Foram excluídos estenose aórtica moderada ou importante aqueles submetidos à redução septal. O nível significância adotado na análise estatística foi...
1. Introdução O conhecimento médico científico sobre a cardiomiopatia hipertrófica (CMH) recebeu grande avanço nas últimas décadas. melhor entendimento da sua patogênese, os avanços expressivos no emprego dos métodos de imagem e aplicação mais corriqueira análise genética, além caracterização história natural dessa doença miocárdica, trouxeram uma profunda reformulação do seu significado clínico prognóstico. Por outro lado, esses progressos foram acompanhados desenvolvimento novas drogas...
OBJECTIVE: Obstructive sleep apnea is common among patients with hypertrophic cardiomyopathy and may contribute to poor cardiovascular outcomes.However, obstructive largely unrecognized in this population.We sought identify the clinical predictors of cardiomyopathy.METHODS: Consecutive were recruited from a tertiary University Hospital evaluated using validated questionnaires (Berlin Epworth) overnight portable monitoring.Ninety (males, 51%; age, 46¡15 years; body mass index, 26.6¡4.9kg/m 2...
Fundamento: Diversos mecanismos podem estar envolvidos no desencadeamento da síncope em pacientes com cardiomiopatia hipertrófica (CMH), incluindo colapsos hemodinâmicos que relacionados a um desequilíbrio autonômico.Objetivo: Avaliar e comparar função autonômica de apresentam CMH inexplicada (SI) os não síncope.Métodos: Trinta sete foram incluídos, sendo 16 SI 21 sem síncope.Sua foi avaliada por sensibilidade barorreflexa (SB) espontânea induzida fenilefrina, pela variabilidade frequência...
Hypertrophic cardiomyopathy is a genetic autosomal dominant disease characterized by left ventricular hypertrophy. The molecular diagnosis important but still expensive. This work aimed to find clinical predictors of positive test in Brazilian tertiary centre cohort index cases with HCM. In the study were included patients HCM diagnosis. For genotype x phenotype comparison we have evaluated echocardiographic, electrocardiographic, and nuclear magnetic resonance measures. All answered...
Resumo Fundamento: A morte súbita cardíaca (MSC), decorrente de arritmias ventriculares, é a principal complicação da cardiomiopatia hipertrófica (CMH). microalternância onda T (MAOT) está associada à ocorrência ventriculares em diversas cardiopatias, mas seu papel na CMH permanece incerto. Objetivo: Avaliar associação MAOT com MSC ou malignas pacientes CMH. Método: Pacientes diagnóstico e classe funcional I-II (NYHA) foram selecionados forma consecutiva. No início do seguimento [...]