MARCELO BISCEGLI JATENE
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Cardio-Pneumologia, Faculdade de Medicina - Docente
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
LIM/11 - Laboratório de Cirurgia Cardiovascular e Fisiopatologia da Circulação, Hospital das Clínicas, Faculdade de Medicina - Líder
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
LIM/11 - Laboratório de Cirurgia Cardiovascular e Fisiopatologia da Circulação, Hospital das Clínicas, Faculdade de Medicina - Líder
66 resultados
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- Cytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Center(2022) GRASSI, Marcilia Sierro; MONTENEGRO, Marilia; ZANARDO, Evelin Aline; PASTORINO, Antonio Carlos; DORNA, Mayra Barros; KIM, Chong; JATENE, Marcelo; MIURA, Nana; KULIKOWSKI, Leslie; CARNEIRO-SAMPAIO, MagdaBackground: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools.
- Surgical Correction of Ascending Aortic Aneurysm Without Coronary Dilatation After Kawasaki Disease in a 3-Year-Old Child(2022) SANTOS, Romullo M.; MASSOTI, Maria Raquel B.; CORONEL, Monica Raquel Gonzalez; MAIA, Frederico Faria; MIANA, Leonardo Augusto; JATENE, Marcelo BiscegliKawasaki disease (KD) is an inflammatory condition that may affect genetically predisposed individuals in pediatric ages after infectious/ environmental triggering. An infrequent finding associated with KD is ascending aortic aneurysm during or after the acute phase of the disease. In this Multimedia presentation, we describe a three-year-old girl submitted to surgical treatment.
- Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation(2020) HONJO, Rachel Sayuri; VACA, Evelyn Cristina Nunez; LEAL, Gabriela Nunes; ABELLAN, Deipara Monteiro; IKARI, Nana Miura; JATENE, Marcelo Biscegli; MARTINS, Ana Maria; KIM, Chong AeBackground The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Cardiac involvement in MPS VI is a common and progressive feature. For MPS patients, cardiac evaluations are recommended every 1 to 2 years, including blood pressure measurement, electrocardiography and echocardiography. However, congestive heart failure and valvular surgical repair are not frequently seen, and if so, they are performed in adults. Here we report on an atypical MPS VI case with ascites fetalis and a rapidly progressive cardiac disease. Case presentation A 6-month-old Brazilian male, only child of a Brazilian healthy non-consanguineous couple. During pregnancy, second trimester ultrasonography observed fetal ascites and bilateral hydrocele. Physical exam at 6 months-old revealed a typical gibbus deformity and MPS was suspected. Biochemical investigation revealed a diagnosis of MPS type VI, confirmed by molecular test. Baseline echocardiogram revealed discrete tricuspid regurgitation and a thickened mitral valve with posterior leaflet prolapse, causing moderate to severe regurgitation. The patient evolved with mitral insufficiency and congestive heart failure, eventually requiring surgical repair by the first year of age. Conclusions We report the first case of MPS VI whose manifestations started in the prenatal period with fetal ascites, with severe cardiac valvular disease that eventually required early surgical repair. Moreover, in MPS with neonatal presentation, including fetal hydrops, besides MPS I, IVA and VII, clinicians should include MPS VI in the differential diagnosis.
- Impact of Vacuum-Assisted Venous Drainage on Forward Flow in Simulated Pediatric Cardiopulmonary Bypass Circuits Utilizing a Centrifugal Arterial Pump Head(2020) GUIMARAES, Daniel Peres; CANEO, Luiz Fernando; MATTE, Gregory S.; CARLETTO, Luciana P.; POLICARPO, Valeria Camargo; CASTRO, Ana Vitoria C. X.; MIRANDA, Matheus H. C.; COSTA, Priscila S.; JATENE, Marcelo B.; CESTARI, Idagene; JATENE, Fabio B.Objective: To analyze the impact of vacuum-assisted venous drainage (VAVD) on arterial pump flow in a simulated pediatric cardiopulmonary bypass circuit utilizing a centrifugal pump (CP) with an external arterial filter. Methods: The simulation circuit consisted of a Quadrox-I Pediatric oxygenator, a Rotaflow CP (Maquet Cardiopulmonary AG, Rastatt, Germany), and a custom pediatric tubing set primed with Lactated Ringer's solution and packed red blood cells. Venous line pressure, reservoir pressure, and arterial flow were measured with VAVD turned off to record baseline values. Four other conditions were tested with progressively higher vacuum pressures (-20, -40, -60, and -80 mmHg) applied to the baseline cardiotomy pressure. An arterial filter was placed into the circuit and arterial flow was measured with the purge line in both open and closed positions. These trials were repeated at set arterial flow rates of 1500, 2000, and 2500 mL/min. Results: The use of progressively higher vacuum caused a reduction in effective arterial flow from 1490 +/- 0.00 to 590 +/- 0.00, from 2020 +/- 0.01 to 1220 +/- 0.00, and from 2490 +/- 0.0 to 1830 +/- 0.01 mL/min. Effective forward flow decreased with increased levels of VAVD. Conclusion: The use of VAVD reduces arterial flow when a CP is used as the main arterial pump. The reduction in the forward arterial flow increases as the vacuum level increases. The loss of forward flow is further reduced when the arterial filter purge line is kept in the recommended open position. An independent flow probe is essential to monitor pump flow during cardiopulmonary bypass.
- A model for preservation of thymocyte-depleted thymus(2023) DIAS, A. S.; DAMACENO-RODRIGUES, N. R.; GIMENEZ, T. M.; OLIVEIRA, P. M.; ZERBINI, M. C.; CARNEIRO-SAMPAIO, M.; FILHO, V. Odone; JATENE, M. B.; VASCONCELOS, D. M.; ROCHA, V.; NOVAK, E. M.DiGeorge syndrome is a disorder caused by a microdeletion on the long arm of chromosome 22. Approximately 1% of patients diagnosed with DiGeorge syndrome may have an absence of a functional thymus, which characterizes the complete form of the syndrome. These patients require urgent treatment to reconstitute T cell immunity. Thymus transplantation is a promising investigational procedure for reconstitution of thymic function in infants with congenital athymia. Here, we demonstrate a possible optimization of the preparation of thymus slices for transplantation through prior depletion of thymocytes and leukocyte cell lineages followed by cryopreservation with cryoprotective media (5% dextran FP 40, 5% Me2SO, and 5% FBS) while preserving tissue architecture. Thymus fragments were stored in liquid nitrogen at -196 & DEG;C for 30 days or one year. The tissue architecture of the fragments was preserved, including the distinction between medullary thymic epithelial cells (TECs), cortical TECs, and Hassall bodies. Moreover, depleted thymus fragments cryopreserved for one year were recolonized by intrathymic injections of 3 x 106 thymocytes per mL, demonstrating the capability of these fragments to support T cell development. Thus, this technique opens up the possibility of freezing and storing large volumes of thymus tissue for immediate transplantation into patients with DiGeorge syndrome or atypical (Omenn-like) phenotype.
- Parameters associated with outcome in pediatric patients with congenital heart disease and pulmonary hypertension subjected to combined vasodilator and surgical treatments(2019) THOMAZ, Ana Maria; KAJITA, Luiz J.; AIELLO, Vera D.; ZORZANELLI, Leina; GALAS, Filomena Regina B. G.; MACHADO, Cleide G.; BARBERO-MARCIAL, Miguel; JATENE, Marcelo B.; RABINOVITCH, Marlene; LOPES, Antonio AugustoManagement of pediatric pulmonary hypertension associated with congenital heart disease (PHT-CHD) is challenging. Some patients have persistently elevated pulmonary artery pressure (PAP) after cardiac surgery, an undesired condition that is difficult to predict. We investigated the value of clinical, hemodynamic, and histopathological data in predicting the outcome in a prospective cohort. Patients with PHT-CHD received sildenafil orally pre- and postoperatively for six months and then were subjected to a catheter study. Thirty-three patients were enrolled (age range = 4.6-37.0 months). Pulmonary vascular resistance (PVR) was 4.9 (range = 3.9-7.2) Wood units x m(2) (median with IQR). Twenty-two patients had a >= 20% decrease in PVR and pulmonary-to-systemic vascular resistance ratio (PVR/SVR) in response to inhaled nitric oxide (NO). The response was directly related to the degree of medial hypertrophy of pulmonary arterioles (P < 0.05) (morphometric analysis, intraoperative lung biopsy). Subsequently, five of the non-responders had a >= 30% increase in pulmonary blood flow in response to sildenafil (3.0 [2.0-4.0] mg/kg/day). Six months after surgery, PAP and PVR were significantly lower (P < 0.001 vs. baseline), even in seven patients with Heath-Edwards grade III/IV pulmonary vascular lesions (P = 0.018), but still abnormal in 12 individuals (>25 mmHg and >3.0 U x m(2), respectively). A preoperative PVR/SVR of >= 24% during NO inhalation and a wall thickness of arteries accompanying respiratory bronchioli of >= 4.7 (Z score) were identified, respectively, as risk and protection factors for abnormal postoperative hemodynamics (hazard ratio [95% CI] = 1.09 [1.01-1.18], P = 0.036; and 0.69 [0.49-0.98], P = 0.040, respectively). Thus, in PHT-CHD patients receiving oral sildenafil pre- and post-surgical repair of cardiac lesions, mid-term postoperative outcome is predictable to some extent.
article 5 Citação(ões) na Scopus Tratamento cirúrgico da persistência do canal arterial na população adulta(2011) JATENE, Marcelo Biscegli; ABUCHAIM, Decio Cavalet Soares; TIVERON, Marcos G.; TANAMATI, Carla; MIURA, Nana; RISO, Arlindo; AUIK, Edrnar; LOPES, Antonio Augusto; MARCIAL, Miguel BarberoObjective: To analyze 34 patients submitted to surgical treatment of patent arterial duct with age beyond 18 years old. Methods: Retrospective data collected from patient's charts with more than eighteen years old, submitted to surgical correction of patent arterial duct between 1997 and 2008 at Instituto do Coracao da Faculdade de Medicina da Universidade de Sao Paulo. Results: The mean age was 28.7 (18 a 53) years and 22 (64.7%) were female. The more prevalent symptom was dyspnea (76.5%). Left lateral thoracotomy was used in 33 (97.1%); the DA was sectioned and sutured in 25 (73.5%) cases and one patient needed cardiopulmonary bypass support. There were eight (23.5%) calcified arterial duct and 12 (35.3%) previous treatment with transcatheter devices were performed. The complication rate was 32%, with one (2.9%) permanent vocal cord palsy. Two (5.8%) patients had residual shunt less than 2mm. Transient left cord voice palsy was observed in 3 (8.8%) The procedure improves functional class (P < 0.0001) and no mortality was observed. Conclusion: In this series, the surgical treatment of patent arterial duct in adults could be done without mortality and low incidence of complications.- Blunted peripheral blood supply and underdeveloped skeletal muscle in Fontan patients: The impact on functional capacity(2018) TURQUETTO, Aida Luiza Ribeiro; SANTOS, Marcelo Rodrigues dos; SAYEGH, Ana Luiza Carrari; SOUZA, Francis Ribeiro de; AGOSTINHO, Daniela Regina; OLIVEIRA, Patricia Alves de; SANTOS, Yarla Alves dos; LIBERATO, Gabriela; BINOTTO, Maria Angelica; OTADUY, Maria Concepcion Garcia; NEGRAO, Carlos Eduardo; CANEO, Luiz Fernando; JATENE, Fabio Biscegli; JATENE, Marcelo BiscegliBackground: Changes in circulatory physiology are common in Fontan patients due to suboptimal cardiac output, which may reduce the peripheral blood flow and impair the skeletal muscle. The objective of this study was to investigate the forearm blood flow (FBF), cross-sectional area (CSA) of the thigh and functional capacity in asymptomatic clinically stable patients undergoing Fontan surgery. Methods: Thirty Fontan patients and 27 healthy subjects underwent venous occlusion plethysmography, magnetic resonance imaging of the thigh musculature and maximal cardiopulmonary exercise testing. Muscle sympathetic nerve activity (MSNA), norepinephrine measures, cardiovascular magnetic resonance, handgrip strength and 6-minute walk test were also performed. Results: Fontan patients have blunted FBF (1.59 +/- 0.33 vs 2.17 +/- 0.52 mL/min/100 mL p < 0.001) and forearm vascular conductance (FVC) (1.69 +/- 0.04 vs 2.34 +/- 0.62 units p < 0.001), reduced CSA of the thigh (81.2 +/- 18.6 vs 116.3 +/- 26.4 cm(2) p < 0.001), lower peak VO2 (29.3 +/- 6 vs 41.5 +/- 9mL/kg/min p < 0.001), walked distance (607 +/- 60 vs 701 +/- 58m p < 0.001) and handgrip strength (21 +/- 9 vs 30 +/- 8 kgf p < 0.001). The MSNA (30 +/- 4 vs 22 +/- 3 bursts/min p < 0.001) and norepinephrine concentration [265 (236-344) vs 222 (147-262) pg/mL p = 0.006] were also higher in Fontan patients. Multivariate linear regression showed FVC (beta = 0.653; CI = 0.102-1.205; p = 0.022) and stroke volume (beta = 0.018; CI = 0.007-0.029; p = 0.002) to be independently associated with reduced CSA of the thigh adjusted for body mass index. The CSA of the thigh adjusted for body mass index (beta = 5.283; CI = 2.254-8.312; p = 0.001) was independently associated with reduced peak VO2. Conclusion: Patients with Fontan operation have underdeveloped skeletal muscle with reduced strengh that is associated with suboptimal peripheral blood supply and diminished exercise capacity.
- Lessons Learned From a Critical Analysis of the Fontan Operation Over Three Decades in a Single Institution(2017) CANEO, Luiz Fernando; TURQUETTO, Aida L. R.; NEIROTTI, Rodolfo A.; BINOTTO, Maria A.; MIANA, Leonardo A.; TANAMATI, Carla; PENHA, Juliano G.; SILVEIRA, Joao B. D.; SILVA, Thais M. Alexandre e; JATENE, Fabio B.; JATENE, Marcelo B.Background: The Fontan operation (FO) has evolved and many centers have demonstrated improved results relative to those from earlier eras. We report a single-institution experience over three decades, describing the outcomes and evaluating risk factors. Methods: Successive patients undergoing primary FO were divided into era I (1984-1994), era II (1995-2004), and era III (2005-2014). Clinical and operative notes were reviewed for demographic, anatomic, and procedure details. End points included early and late mortality and a composite of death, heart transplantation (HTX), or Fontan takedown. Results: A total of 420 patients underwent 18 atriopulmonary connections, 82 lateral tunnels (LT), and 320 extracardiac conduit (EC) Fontan procedures. Forty-six (11%) patients died; early and late mortality were 7.9% and 3.1%, respectively. Eight (1.9%) patients underwent HTX, 11 (2.6%) underwent Fontan conversion to EC, and 1 (0.2%) takedown of EC to bidirectional Glenn shunt. Prevalence of concomitant valve surgery (P < .001) and pulmonary artery reconstruction (P < .001) differed over the eras. Preoperative valve regurgitation was associated with likelihood of early mortality (odds ratio [OR] = 3.5, P = .002). Embolic events (OR = 1.9, P = .047), preoperative valve regurgitation (OR = 2.3, P = .029), diagnosis of unbalanced atrioventricular canal defect (OR = 1.14, P = .03), and concomitant valve replacement (OR = 6.9, P = .001) during the FO were associated with increased risk of the composite end point (death, HTX, or takedown). Conclusion: Technical modifications did not result in improved results across eras, due in part to more liberal indications for surgery in the recent years. Valve regurgitation, unbalanced atrioventricular canal, embolic events, or concomitant valve replacement were associated with FO failure.
- Improving preoperative risk-of-death prediction in surgery congenital heart defects using artificial intelligence model: A pilot study(2020) CHANG JUNIOR, Joao; BINUESA, Fabio; CANEO, Luiz Fernando; TURQUETTO, Aida Luiza Ribeiro; ARITA, Elisandra Cristina Trevisan Calvo; BARBOSA, Aline Cristina; FERNANDES, Alfredo Manoel da Silva; TRINDADE, Evelinda Marramon; JATENE, Fabio Biscegli; DOSSOU, Paul-Eric; JATENE, Marcelo BiscegliBackground Congenital heart disease accounts for almost a third of all major congenital anomalies. Congenital heart defects have a significant impact on morbidity, mortality and health costs for children and adults. Research regarding the risk of pre-surgical mortality is scarce. Objectives Our goal is to generate a predictive model calculator adapted to the regional reality focused on individual mortality prediction among patients with congenital heart disease undergoing cardiac surgery. Methods Two thousand two hundred forty CHD consecutive patients' data from InCor's heart surgery program was used to develop and validate the preoperative risk-of-death prediction model of congenital patients undergoing heart surgery. There were six artificial intelligence models most cited in medical references used in this study: Multilayer Perceptron (MLP), Random Forest (RF), Extra Trees (ET), Stochastic Gradient Boosting (SGB), Ada Boost Classification (ABC) and Bag Decision Trees (BDT). Results The top performing areas under the curve were achieved using Random Forest (0.902). Most influential predictors included previous admission to ICU, diagnostic group, patient's height, hypoplastic left heart syndrome, body mass, arterial oxygen saturation, and pulmonary atresia. These combined predictor variables represent 67.8% of importance for the risk of mortality in the Random Forest algorithm. Conclusions The representativeness of ""hospital death"" is greater in patients up to 66 cm in height and body mass index below 13.0 for InCor's patients. The proportion of ""hospital death"" declines with the increased arterial oxygen saturation index. Patients with prior hospitalization before surgery had higher ""hospital death"" rates than who did not required such intervention. The diagnoses groups having the higher fatal outcomes probability are aligned with the international literature. A web application is presented where researchers and providers can calculate predicted mortality based on the CgntSCORE on any web browser or smartphone.