VIVIANE ZORZANELLI ROCHA GIRALDEZ
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina - Médico
12 resultados
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conferenceObject PREDICTORS OF CORONARY ARTERY CALCIFICATION INCIDENCE IN SEVERE HYPERCHOLESTEROLEMIA(2023) MARTE, Ana; MINAME, Marcio Hiroshi; PARDI, Estevao Magalhaes; GANEM, Lucas; MIZUTA, Marjorie Hayashida; ROCHA, Viviane Zorzanelli; PEREIRA, Alexandre Costa; KRIEGER, Jose Eduardo; SANTOS, RaulconferenceObject ANALYSIS OF ELEVATED LIPOPROTEIN (A) LEVELS IN A REFERRAL CARDIOVASCULAR CENTER IN SAO PAULO, BRAZIL(2020) MIZUTA, Marjorie Hayashida; MINAME, Marcio Hiroshi; ROCHA, Viviane Z.; CHACRA, Ana Paula M.; SALGADO, Wilson; SANTOS, Raul D.- Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program(2022) TADA, Mauricio Teruo; ROCHA, Viviane Zorzanelli; LIMA, Isabella Ramos; OLIVEIRA, Theo Gremen Mimary; CHACRA, Ana Paula; MINAME, Marcio Hiroshi; NUNES, Valeria Sutti; NAKANDAKARE, Edna Regina; CASTELO, Maria Helane Costa Gurgel; JANNES, Cinthia Elim; SANTOS, Raul D.; KRIEGER, Jose Eduardo; PEREIRA, Alexandre CostaBackground: Sitosterolemia is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in ABCG5/ABCG8. The disease is characterized by increased plasma plant sterols. Small case series suggest that patients with sitosterolemia have wide phenotypic heterogeneity with great variability on either plasma cholesterol levels or development of atherosclerotic cardiovascular disease. The present study aims to characterize the prevalence and clinical features of sitosterolemia participating in a familial hypercholesterolemia genetic cascade screening program. Methods: From 443 familial hypercholesterolemia index cases, 260 were negative for familial hypercholesterolemia genes and were sequenced for the ABCG5/8 genes. Clinical and laboratory characteristics of affected individuals were determined. Results: Eight (3.1%) index cases were found to be homozygous or compound heterozygous variant for ABCG5/ABCG8 genes, confirming the genetic diagnosis of sitosterolemia. Screening their relatives led to the identification of 6 additional confirmed sitosterolemia cases (3 homozygous and 3 compound heterozygous variant) and 18 carriers (heterozygous). The mean age of identified sitosterolemia cases (n=14) was 37.2 +/- 19.8 years, 50% were females, and 78.6% (all adults) presented either clinical or subclinical atherosclerotic cardiovascular disease. As expected, affected individuals presented elevated plasma plant sterol levels (mean beta-Sitosterol and campesterol, respectively, 160.3 +/- 107.1 and 32.0 +/- 19.6 mu g/mL) and the highest plasma LDL (low-density lipoprotein)-cholesterol was 269.0 +/- 120.0 mg/dL (range: 122-521 mg/dL). LDL-cholesterol mean reduction with therapy among cases was 65%. Eighty-three percent (83%) of identified sitosterolemia patients presented hematologic abnormalities. Conclusions: Testing genes associated with sitosterolemia in the molecular routine workflow of a familial hypercholesterolemia cascade screening program allowed the precise diagnosis of sitosterolemia in a substantial number of patients with varying LDL-C levels and high incidence of early atherosclerotic cardiovascular disease and hematologic abnormalities.
- Update on Sitosterolemia and Atherosclerosis(2023) ROCHA, Viviane Zorzanelli; TADA, Mauricio Teruo; CHACRA, Ana Paula Marte; MINAME, Marcio Hiroshi; MIZUTA, Marjorie H. H.Purpose of ReviewThe purpose of this review was to summarize important and updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder consisting of high levels of plasma plant sterols. This sterol storage condition is caused by biallelic loss-of-function genetic variants in either ABCG5 or ABCG8, leading to increased intestinal absorption and decreased hepatic excretion of plant sterols. Clinically, patients with sitosterolemia usually exhibit xanthomatosis, high levels of plasma cholesterol, and premature atherosclerotic disease, but presentation can be highly heterogeneous. Therefore, recognition of this condition requires a high level of suspicion, with confirmation upon genetic diagnosis or through measurement of plasma phytosterols. Treatment of sitosterolemia with both a plant sterol-restricted diet and the intestinal cholesterol absorption inhibitor ezetimibe can reduce efficiently the levels of plasma plant sterols, consisting in the first-line therapy for this disease.Recent FindingsSince hypercholesterolemia is often present in individuals with sitosterolemia, it is important to search for genetic variants in ABCG5 and ABCG8 in patients with clinical criteria for familial hypercholesterolemia (FH), but no variants in FH implicated genes. Indeed, recent studies have suggested that genetic variants in ABCG5/ABCG8 can mimic FH, and even when in heterozygosis, they may potentially exacerbate the phenotype of patients with severe dyslipidemia.Sitosterolemia is a genetic lipid disorder characterized by increased circulating levels of plant sterols and clinically manifested by xanthomatosis, hematologic disorders, and early atherosclerosis. Awareness about this condition, a rare, but commonly underdiagnosed and yet treatable cause of premature atherosclerotic disease, is imperative.
- Update of the Brazilian Guideline for Familial Hypercholesterolemia-2021(2021) IZAR, Maria Cristina de Oliveira; GIRALDEZ, Viviane Zorzanelli Rocha; BERTOLAMI, Adriana; SANTOS FILHO, Raul Dias dos; LOTTENBERG, Ana Maria; ASSAD, Marcelo Heitor Vieia; SARAIVA, Jose Francisco Kerr; CHACRA, Ana Paula M.; MARTINEZ, Tania L. R.; BAHIA, Luciana Ribeiro; FONSECA, Francisco Antonio Helfenstein; FALUDI, Andre Arpad; SPOSITO, Andrei C.; CHAGAS, Antonio Carlos Palandri; JANNES, Cinthia Elim; AMARAL, Cristiane Kovacs; ARAUJO, Daniel Branco de; CINTRA, Dennys Esper; COUTINHO, Elaine dos Reis; CESENA, Fernando; XAVIER, Hermes Toros; MOTA, Isabela Cardoso Pimentel; GIULIANO, Isabela de Carlos Back; FARIA, Jose Rocha; KATO, Juliana Tieko; BERTOLAMI, Marcelo Chiara; MINAME, Marcio Hiroshi; CASTELO, Maria Helane Costa Gurgel; LAVRADOR, Maria Silvia Ferrari; MACHADO, Roberta Marcondes; SOUZA, Patricia Guedes de; ALVES, Renato Jorge; MACHADO, Valeria Arruda; SALGADO FILHO, Wilson
conferenceObject RAPID PROGRESSION OF CORONARY ATHEROSCLEROSIS IN A PATIENT WITH AUTOSSOMAL RECESSIVE HYPERCHOLESTEROLEMIA(2023) MIZUTA, Marjorie Hayashida; AMORIM, Matheus; ROCHA, Viviane Zorzanelli; MINAME, Marcio Hiroshi; JANNES, Cinthia Elim; PEREIRA, Alexandre Costa; KRIEGER, Jose Eduardo; SANTOS, Raul; CHACRA, Ana Paula Marte- Insights into the Role of Inflammation in the Management of Atherosclerosis(2023) ROCHA, Viviane Zorzanelli; RACHED, Fabiana Hanna; MINAME, Marcio HiroshiAtherosclerosis is the biological basis of ischemic heart disease and ischemic stroke, the leading causes of death in the world. After decades of studies, the understanding of atherosclerosis has evolved dramatically, and inflammation has been recognized as one of the most relevant pillars in all phases of atherosclerotic disease. Nevertheless, only recently, the trial CANTOS, and subsequent outcome studies with colchicine, finally provided proof-of-concept evidence that anti-inflammatory therapies were able to reduce cardiovascular events with no influence on lipid levels. These landmark studies inaugurated an era of clinical and pre-clinical studies of immunomodulatory strategies focused on reduction of cardiovascular risk. Although there are promising results in the field, selection of the most appropriate immunomodulatory therapy and identification of patients who could benefit the most, are still enormous challenges. Further research is imperative before we can finally advance towards regular use of anti-inflammatory agents to reduce atherosclerotic events in our clinical practice.
bookPart Capitulo Complementar: Lipoproteina de Baixa Densidade (LDL) e Prevenção da Doença Cardiovascular(2018) MINAME, Marcio Hiroshi; ROCHA, Viviane Zorzanelli; SANTOS FILHO, Raul Dias dosconferenceObject STATIN-INDUCED HEPATITIS IN A SECONDARY PREVENTION PATIENT WITH SEVERE HYPERCHOLESTEROLEMIA(2017) BETTEGA, Marcelo; MINAME, Marcio Hiroshi; ROCHA, Viviane Zorzanelli; SANTOS FILHO, Raul Dias dos; RIZERIO, Brenno- Updated Cardiovascular Prevention Guideline of the Brazilian Society of Cardiology-2019(2019) PRECOMA, Dalton Bertolim; OLIVEIRA, Glaucia Maria Moraes de; SIMAO, Antonio Felipe; DUTRA, Oscar Pereira; COELHO, Otavio Rizzi; IZAR, Maria Cristina de Oliveira; POVOA, Rui Manuel dos Santos; GIULIANO, Isabela de Carlos Back; ALENCAR FILHO, Aristoteles Comte de; MACHADO, Carlos Alberto; SCHERR, Carlos; FONSECA, Francisco Antonio Helfenstein; SANTOS FILHO, Raul Dias dos; CARVALHO, Tales de; JR, Alvaro Avezum; ESPORCATTE, Roberto; NASCIMENTO, Bruno Ramos; BRASIL, David de Padua; SOARES, Gabriel Porto; VILLELA, Paolo Blanco; FERREIRA, Roberto Muniz; MARTINS, Wolney de Andrade; SPOSITO, Andrei C.; HALPERN, Bruno; SARAIVA, Jose Francisco Kerr; CARVALHO, Luiz Sergio Fernandes; TAMBASCIA, Marcos Antonio; COELHO-FILHO, Otavio Rizzi; BERTOLAMI, Adriana; CORREA FILHO, Harry; XAVIER, Hermes Toros; FARIA-NETO, Jose Rocha; BERTOLAMI, Marcelo Chiara; GIRALDEZ, Viviane Zorzanelli Rocha; BRANDAO, Andrea Araujo; FEITOSA, Audes Diogenes de Magalhaes; AMODEO, Celso; SOUZA, Dilma do Socorro Moraes de; BARBOSA, Eduardo Costa Duarte; MALACHIAS, Marcus Vinicius Bolivar; SOUZA, Weimar Kunz Sebba Barroso de; COSTA, Fernando Augusto Alves da; RIVERA, Ivan Romero; PELLANDA, Lucia Campos; SILVA, Maria Alayde Mendonca da; ACHUTTI, Aloyzio Cechella; LANGOWISKI, Andre Ribeiro; LANTIERI, Carla Janice Baister; SCHOLZ, Jaqueline Ribeiro; ISMAEL, Silvia Maria Cury; AYOUB, Jose Carlos Aidar; SCALA, Luiz Cesar Nazario; NEVES, Mario Fritsch; JARDIM, Paulo Cesar Brandao Veiga; FUCHS, Sandra Cristina Pereira Costa; JARDIM, Thiago de Souza Veiga; MORIGUCHI, Emilio Hideyuki; SCHNEIDER, Jamil Cherem; ASSAD, Marcelo Heitor Vieira; KAISER, Sergio Emanuel; LOTTENBERG, Ana Maria; MAGNONI, Carlos Daniel; MINAME, Marcio Hiroshi; LARA, Roberta Soares; HERDY, Artur Haddad; ARAUJO, Claudio Gil Soares de; MILANI, Mauricio; SILVA, Miguel Morita Fernandes da; STEIN, Ricardo; LUCCHESE, Fernando Antonio; NOBRE, Fernando; GRIZ, Hermilo Borba; MAGALHAES, Lucelia Batista Neves Cunha; BORBA, Mario Henrique Elesbao de; PONTES, Mauro Ricardo Nunes; MOURILHE-ROCHA, Ricardo