Importance of genetic testing in dilated cardiomyopathy : applications and challenges in clinical practice

A miocardiopatia dilatada (MCD) é uma síndrome caracterizada por dilatação ventricular esquerda e disfunção contrátil, sendo considerada a causa mais comum de insuficiência cardíaca em adultos jovens. O uso do sequenciamento de nova geração tem contribuído com a descoberta de uma grande quantidade de dados genômicos relacionados à MCD, identificando mutações que envolvem genes que codificam proteínas do citoesqueleto, sarcômero e canais iônicos, os quais são responsáveis por aproximadamente 40% dos casos classificados como MCD idiopática. Nesse cenário, geneticistas e especialistas em genética cardiovascular passaram a atuar em conjunto, agregando conhecimento e estabelecendo diagnósticos mais precisos. No entanto, é fundamental interpretar corretamente os resultados genéticos, sendo necessário criar e fomentar equipes multidisciplinares dedicadas à gestão e análise das informações coletadas. Nesta revisão, abordamos os fatores genéticos associados à MCD, aspectos prognósticos, além de discutirmos como o emprego dos testes genéticos, quando bem indicados, pode ser útil na tomada de decisão na prática clínica dos cardiologistas.Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process

The Brazilian Registry of Adult Patient Undergoing Cardiovascular Surgery, the BYPASS Project: Results of the First 1,722 Patients

Objective: To report the early results of the BYPASS project - the Brazilian registrY of adult Patient undergoing cArdiovaScular Surgery - a national, observational, prospective, and longitudinal follow-up registry, aiming to chart a profile of patients undergoing cardiovascular surgery in Brazil, assessing the data harvested from the initial 1,722 patients. Methods: Data collection involved institutions throughout the whole country, comprising 17 centers in 4 regions: Southeast (8), Northeast (5), South (3), and Center-West (1). The study population consists of patients over 18 years of age, and the types of operations recorded were: coronary artery bypass graft (CABG), mitral valve, aortic valve (either conventional or transcatheter), surgical correction of atrial fibrillation, cardiac transplantation, mechanical circulatory support and congenital heart diseases in adults. Results: 83.1% of patients came from the public health system (SUS), 9.6% from the supplemental (private insurance) healthcare systemsand 7.3% from private (out-of-pocket) clinic. Male patients comprised 66%, 30% were diabetics, 46% had dyslipidemia, 28% previously sustained a myocardial infarction, and 9.4% underwent prior cardiovascular surgery. Patients underwent coronary artery bypass surgery were 54.1% and 31.5% to valve surgery, either isolated or combined. The overall postoperative mortality up to the 7th postoperative day was 4%for CABG was 2.6%, and for valve operations, 4.4%. Conclusion: This first report outlines the consecution of the Brazilian surgical cardiac database, intended to serve primarily as a tool for providing information for clinical improvement and patient safety and constitute a basis for production of research protocols.Univ Fed Sao Paulo UNIFESP EPM, Hosp Sao Paulo, Sao Paulo, SP, BrazilHosp Caridade Sao Vicente Paulo, Jundiai, SP, BrazilInst Med Integral Prof Fernando Figueira IMIP, Recife, PE, BrazilHosp Base FUNFARME & FAMERP, Sao Jose Do Rio Preto, SP, BrazilIMC, Sao Jose Do Rio Preto, SP, BrazilIrmandade Santa Casa Sao Paulo INCT HPV, Fac Ciencias Med Santa Casa Sao Paulo, Sao Paulo, SP, BrazilFundacao Univ Cardiol, Inst Cardiol Rio Grande do Sul, Porto Alegre, RS, BrazilInst Coracao Natal, Natal, RN, BrazilInst Cardiol Dist Fed, Brasilia, DF, BrazilUniv Fed Maranhao HU UFMA, Univ Hosp, Sao Luis, MA, BrazilHosp Evangelico, Cachoeiro De Itapemirim, ES, BrazilHosp Coracao Sergipe, Aracaju, SE, BrazilHosp Nossa Senhora Salete, Inst Cirurgia Cardiovasc ICCV, Cascavel, PR, BrazilHosp Wilson Rosado, Mossoro, RN, BrazilHosp Bosque Saude, Sao Paulo, SP, BrazilHosp Univ Santa Maria, Santa Maria, RS, BrazilHosp Coracao HCor, Sao Paulo, SP, BrazilHosp Coracao IP HCor, Ins Pesquisa, Sao Paulo, SP, BrazilInst Coracao InCor, Sao Paulo, SP, BrazilUniv Fed Sao Paulo UNIFESP EPM, Hosp Sao Paulo, Sao Paulo, SP, BrazilWeb of Scienc

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≤ 18 years: 69, 48, 23; 85%), older adults (≥ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P < 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

Cirurgia do arco aórtico com perfusão cerebral bilateral pelo isolamento do tronco braquiocefálico e da artéria carótida esquerda Aortic arch surgery with bilateral cerebral perfusion by isolation of brachiocephalic trunk and left carotid artery

OBJETIVO: Estudar os resultados da técnica descrita por Carreira et al. com utilização de perfusão cerebral seletiva bilateral (PCSAB) pelo isolamento do tronco braquiocefálico e artéria carótida esquerda. MÉTODOS: Quinze pacientes foram operados consecutivamente entre de junho de 2005 e setembro de 2007. Os dados foram analisados por programa informatizado Epi Info e significância estatística com p<0,05. RESULTADOS: No grupo analisado, 53,3% dos pacientes eram do sexo masculino e a idade média era de 59,86±15,4 anos. Com relação à doença de base, 60% dos pacientes apresentavam dissecção aguda do tipo A, 6,7% tipo B e 33,3% aneurisma da aorta e arco. O tempo médio de CEC e de anoxia foi de 177,6±39,4 e 135,9±34,0 minutos, respectivamente. Nesse grupo, 86,7% dos pacientes não foram submetidos a parada circulatória total, com tempo médio de PCSA unilateral e bilateral de 10,9±2,0 e 57,2±21,2 minutos, respectivamente. A temperatura média da hipotermia foi de 23,0±2,9ºC. A artéria subclávia esquerda foi ligada em dois (13,3%) pacientes, e nove (60%) foram submetidos a anastomoses proximal e distal com tubos separados. Utilizou-se endoprótese vascular na aorta descendente em quatro (26,7%) pacientes. Três (20%) pacientes morreram, todos do subgrupo de dissecção aguda. Nenhum dos sobreviventes apresentou seqüelas neurológicas, com média de acompanhamento tardio de 11,7±9,6 meses. Nenhum dos fatores estudados apresentou relação estatisticamente significativa com a mortalidade (p>0,05). CONCLUSÃO: A técnica de PCSAB é reprodutível e apresenta resultados semelhantes aos da literatura mundial. A excelente evolução neurológica e o fácil controle de sangramentos nas linhas de sutura podem ter contribuído com os resultados obtidos.<br>OBJECTIVE: To evaluate the results of a technique described by Carreira et al. using bilateral antegrade selective cerebral perfusion by isolating the brachiocephalic trunk and the left carotid artery. METHODS: Fifteen patients were operated between June 2005 and September 2007. Data analysis were performed using Epi Info and statistical significance was set at p<0.05. RESULTS: Of the 15 patients, 53.3% were male; mean age was 59.86±15.4 years; 60% presented with type A acute aortic dissection; 6.7% type B; and 33.3% aneurysm of aorta and arch. Mean CPB and aortic clamping time was 177.6±39.4 and 135.9±34.0 minutes, respectively. In this group, 86.7% were not submitted to total circulatory arrest, with mean unilateral and bilateral selective cerebral perfusion time of 10.9±2.0 and 57.2±21.2 minutes, respectively. Mean hypothermic temperature was 23.0±2.9ºC. Two had left subclavian artery ligature, 60% used separated aortic grafts, and four used aortic endoprosthesis. Three (20%) patients died, all of them in the acute aortic dissection group. There were no neurological complications. The mean follow up time was 11.7±9.6 months. Regarding mortality, none of the parameters were statistically significant (p>0.05). CONCLUSION: The technique of bilateral selective cerebral perfusion described by Carreira et al. can be performed by others and presents similar results to the international literature. The excellent neurological outcome and easy bleeding control on surgical sutures lines are the major advantages of this new procedure

Importance of genetic testing in dilated cardiomyopathy : applications and challenges in clinical practice

A miocardiopatia dilatada (MCD) é uma síndrome caracterizada por dilatação ventricular esquerda e disfunção contrátil, sendo considerada a causa mais comum de insuficiência cardíaca em adultos jovens. O uso do sequenciamento de nova geração tem contribuído com a descoberta de uma grande quantidade de dados genômicos relacionados à MCD, identificando mutações que envolvem genes que codificam proteínas do citoesqueleto, sarcômero e canais iônicos, os quais são responsáveis por aproximadamente 40% dos casos classificados como MCD idiopática. Nesse cenário, geneticistas e especialistas em genética cardiovascular passaram a atuar em conjunto, agregando conhecimento e estabelecendo diagnósticos mais precisos. No entanto, é fundamental interpretar corretamente os resultados genéticos, sendo necessário criar e fomentar equipes multidisciplinares dedicadas à gestão e análise das informações coletadas. Nesta revisão, abordamos os fatores genéticos associados à MCD, aspectos prognósticos, além de discutirmos como o emprego dos testes genéticos, quando bem indicados, pode ser útil na tomada de decisão na prática clínica dos cardiologistas.Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process

Modified Hybrid Procedure in Hypoplastic Left Heart Syndrome: Initial Experience of a Center in Northeastern Brazil

Abstract Introduction: Although it only corresponds to 2.5% of congenital heart defects, hypoplastic left heart syndrome (HLHS) is responsible for more than 25% of cardiac deaths in the first week of life. Palliative surgery performed after the second week of life is considered an important risk factor in the treatment of HLHS. Objective: The aim of this study is to describe the initial experience of a medical center in Northeastern Brazil with a modified off-pump hybrid approach for palliation of HLHS. Methods: From November 2012 through November 2015, the medical records of 8 patients with HLHS undergoing hybrid procedure were retrospectively evaluated in a tertiary private hospital in Northeastern Brazil. The modified off-pump hybrid palliation consisted of stenting of the ductus arteriosus guided by fluoroscopy without contrast and banding of the main pulmonary artery branches. Demographic and clinical variables were recorded for descriptive analysis. Results: Eight patients were included in this study, of whom 37.5% were female. The median age and weight at the time of the procedure was 2 days (p25% and p75% = 2 and 4.5 days, respectively) and 3150 g (p25% and p75% = 3077.5 g and 3400 g, respectively), respectively. The median length in intensive care unit stay was 6 days (p25% and p75% = 3.5% and 8 days, respectively). There were no in-hospital deaths. Four patients have undergone to the second stage of the surgical treatment of HLHS. Conclusion: In this series, the initial experience with the modified off-pump hybrid procedure showed to be safe, allowing a low early mortality rate among children presenting HLHS