MARCIO HIROSHI MINAME
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina - Médico
31 resultados
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- I Brazilian Guidelines On Cardiovascular Prevention(2013) SIMAO, A. F.; PRECOMA, D. B.; ANDRADE, J. P.; CORREA FILHO, H.; SARAIVA, J. F. K.; OLIVEIRA, G. M. M.; MURRO, A. L. B.; CAMPOS, A.; ALESSI, A.; AVEZUM JUNIOR, A.; ACHUTTI, A. C.; MIGUEL, A. C. M. G.; SOUSA, A. C. S.; LOTEMBERG, A. M. P.; LINS, A. P.; FALUD, A. A.; BRANDAO, A. A.; SANJULIANI, A. F.; SBISSA, A. S.; ALENCAR FILHO, A. C.; HERDY, A. H.; POLANCZYK, C. A.; LANTIERI, C. J.; MACHADO, C. A.; SCHERR, C.; STOLL, C.; AMODEO, C.; ARAUJO, C. G. S.; SARAIVA, D.; MORIGUCHI, E. H.; MESQUITA, E. T.; CESENA, F. H. Y.; FONSECA, F. A. H.; CAMPOS, G. P.; SOARES, G. P.; FEITOSA, G. S.; XAVIER, H. T.; CASTRO, I; GIULIANO, I. C. B.; V, I. Rivera; GUIMARAES, I. C. B.; ISSA, J. S.; SOUZA, J. R. M.; FARIA NETO, J. R.; CUNHA, L. B. N.; PELLANDA, L. C.; BORTOLOTTO, L. A.; BERTOLAMI, M. C.; MINAME, M. H.; GOMES, M. A. M.; TAMBASCIA, M.; MALACHIAS, M. V. B.; SILVA, M. A. M.; IZA, M. C. O.; MAGALHAES, M. E. C.; BACELLAR, M. S. C.; MILANI, M.; WAJNGARTEN, M.; GHORAYEB, N.; COELHO, O. R.; VILLELA, P. B.; V, P. C. B. Jardim; SANTOS FILHO, R. D.; STEIN, R.; CASSANI, R. S. L.; D'AVILA, R. L.; FERREIRA, R. M.; BARBOSA, R. B.; POVOA, R. M. S.; KAISER, S. E.; ISMAEL, S. C.; CARVALHO, T.; GIRALDEZ, V. Z. R.; COUTINHO, W.; SOUZA, W. K. S. B.
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.
- Cardiovascular disease onset in old people with severe hypercholesterolemia(2023) COUTINHO, Elaine R.; MINAME, Marcio H.; ROCHA, Viviane Z.; BITTENCOURT, Marcio S.; JANNES, Cinthia E.; KRIEGER, Jose E.; PEREIRA, Alexandre C.; SANTOS, Raul D.Background and aims: Familial hypercholesterolemia (FH) variants are associated with higher atherosclerotic cardiovascular disease risk (ASCVD) even when compared with other forms of severe hypercholesterolemia, especially in young people. Lipid lowering therapies (LLT) may change hypercholesterolemia natural history. This study aimed at evaluating factors associated with occurrence of ASCVD in old severe hypercholesterolemics diagnosed or not with FH and undergoing LLT.Methods: Hypercholesterolemic individuals >= 60 years participating on a genetic cascade screening for FH were divided in 4 groups (2 x 2) according to the presence (variant+) or not (variant-) of FH genetic variants and previous ASCVD (ASCVD+ and ASCVD-). Biomarkers associated with new incident ASCVD events were tested using Cox models. Continuous data shown as medians (%25; %75).Results: From 4,111 genotyped individuals, 377 (9.1%) were elderly [age 66 (63; 71) years], 28.9% males, 42.7% variant+, 32.1% with previous ASCVD, LLT duration 9 (5; 16) years, and on treatment LDL-cholesterol 144 (109; 200) mg/dL. After 4.8 (7; 3) years of follow up there were 47 incident events (12.4%, 2.7% patient/year). The annualized event rates were 0.8% (95% CI 0.36%; 1.70%), 2.3% (95% CI 1.3%; 4.1%), 5.2% (95% CI 2.8%; 9.7%) and 6.3% (95% CI 4.0%; 10.0%) respectively for groups variant-/ASCVD-, variant+/ASCVD-, variant-/ ASCVD+ and, variant+/ASCVD+ (p log rank p < 0.001). Only presence of previous ASCVD was independently associated with incident ASCVD [hazard ratio 3.236 (95%CI 1.497-6.993, p = 0.003)]. No interaction was found for previous ASCVD and variants.Conclusions: In old severe hypercholesterolemic individuals undergoing long-term LLT previous ASCVD was associated with incident events while FH causing variants were not.
- 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.
- The Role of RNA-Targeted Therapeutics to Reduce ASCVD Risk: What Have We Learned Recently?(2021) MINAME, Marcio H.; ROCHA, Viviane Z.; SANTOS, Raul D.Purpose of Review To discuss advances on the RNA-targeted therapies to treat dyslipidemia with the aim of reducing atherosclerotic cardiovascular disease (ASCVD). Recent Findings Genetic studies have paved the way for therapies that reduce translation of proteins that play causal roles in dyslipidemia and atherosclerosis like proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B-100 (apoB), apolipoprotein(a) [apo(a)], apolipoprotein C3 (apoC3), and angiopoietin-like 3 (ANGPTL3). Either antisense oligonucleotide (ASO) therapies and small interfering RNA (siRNA) molecules inhibit protein synthesis and consequently improve dyslipidemia. Most of these molecules contain N-acetylgalactosamine (GalNAc) moieties that have high specificity for hepatocytes and therefore reduce concentration in other tissues. Inclisiran, an siRNA for PCSK9, has shown robust LDL-C reductions, with good tolerability, in severe forms of hypercholesterolemia as well as in high cardiovascular disease patients with injections every 3 to 6 months. Pelacarsen is an ASO against apolipoprotein(a) that reduces Lp(a) up to 80% with good tolerability. Either inclisiran or pelacarsen is being tested to show it can prevent ASCVD. AMG 890, an siRNA compound aimed at reducing apo(a) synthesis, is also under investigation. Volanesorsen is an ASO against apoC3 that reduces triglyceride levels up to 70% and is being tested in severe hypertriglyceridemic patients. Vupanorsen is an ASO against ANGPTL3 that reduced triglyceride levels 36-53% among moderate hypertriglyceridemic individuals. Interestingly, it also reduces ApoC3 and non-HDL cholesterol and apoB; however, it lowers HDL cholesterol. RNA-targeted therapies are being extensively tested for dyslipidemia treatment with promising results.
- 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
- Achilles tendon xanthomas are associated with the presence and burden of subclinical coronary atherosclerosis in heterozygous familial hypercholesterolemia: A pilot study(2017) MANGILI, Leonardo C.; MINAME, Marcio H.; SILVA, Pamela R. S.; BITTENCOURT, Marcio S.; ROCHA, Viviane Z.; MANGILI, Otavio C.; SALGADO FILHO, Wilson; CHACRA, Ana P.; JANNES, Cinthia E.; PEREIRA, Alexandre C.; SANTOS, Raul D.Background and aims: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients. Methods: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification. Subclinical coronary atherosclerosis was quantified by CAC, segment-stenosis (SSS) and segment-involvement (SIS) scores. Adjusted Poisson regression was used to assess the association of ATX with subclinical atherosclerosis burden as continuous variables. Results: Patients with ATX (n = 21, 21%) had higher LDL-C and lipoprotein(a) [Lp(a)] concentrations as well as greater CAC scores, SIS and SSS (p < 0.05). After adjusting for age, sex, smoking, hypertension, previous statin use, HDL-C, LDL-C and Lp(a) concentrations, there was an independent positive association of ATX presence with CAC scores (beta = 1.017, p < 0.001), SSS (beta = 0.809, p < 0.001) and SIS (beta = 0.640, p < 0.001). Conclusions: ATX are independently associated with the extension of subclinical coronary atherosclerosis quantified by tomographic scores in FH patients.
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