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INTRODUCTION: Patients with advanced heart failure (HF) have high morbidity and mortality, with only a small proportion being eligible for advanced therapies. Intermittent outpatient levosimendan infusion has been shown to provide symptomatic relief and reduce the rate of HF events. Our aim was to assess the safety and efficacy of outpatient levosimendan administration in an advanced HF population. METHODS: This is a report of a single-center experience of consecutive advanced HF patients referred for intermittent intravenous outpatient administration of levosimendan, between January 2018 and March 2021. Baseline and follow-up evaluation included clinical assessment, laboratory tests, transthoracic echocardiography and cardiopulmonary exercise testing. Baseline and clinical follow-up data were compared using the Wilcoxon signed-rank test. RESULTS: A total of 24 patients (60.8 years, 83% male, mean left ventricular ejection fraction [LVEF] 24%), with a median of 1.5 HF hospitalizations in the previous six months, were referred for outpatient levosimendan pulses, the majority as a bridge to transplantation or due to clinical deterioration. At six-month follow-up there was a significant reduction in HF hospitalizations to 0.4±0.7 (p<0.001). NYHA class IV (52.2% to 12.5%, p=0.025) and NT-proBNP (8812.5 to 3807.4 pg/ml, p=0.038) were also significantly reduced. Exercise capacity was significantly improved, including peak oxygen uptake (p=0.043) and VE/VCO2 slope (p=0.040). LVEF improved from 24.0% to 29.7% (p=0.008). No serious adverse events were reported. CONCLUSION: Repeated levosimendan administration in advanced HF patients is a safe procedure and was associated with a reduction in HF hospitalizations, functional and LVEF improvement, and reduction in NT-proBNP levels during follow-up.
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Insuficiencia Cardíaca , Piridazinas , Humanos , Masculino , Femenino , Simendán/farmacología , Simendán/uso terapéutico , Cardiotónicos/uso terapéutico , Volumen Sistólico , Pacientes Ambulatorios , Hidrazonas/uso terapéutico , Piridazinas/uso terapéutico , Función Ventricular Izquierda , Insuficiencia Cardíaca/terapiaRESUMEN
Resumo A distrofia muscular de Emery-Dreifuss é uma doença neuromuscular hereditária rara. Suas manifestações começam principalmente na infância. As manifestações mais frequentes são fraqueza muscular progressiva, atrofia que geralmente se inicia na região escápulo-vertebral, estendendo-se posteriormente para a cintura pélvica e rigidez da coluna vertebral. Os pacientes também podem manifestar envolvimento cardíaco como palpitações, síncope, intolerância ao exercício, insuficiência cardíaca congestiva e distúrbios variáveis do ritmo cardíaco. 1 - 3 A presença e a gravidade dessas manifestações podem variar de acordo com o indivíduo e os subtipos da doença. 2 O envolvimento cardíaco é a característica mais preocupante desta doença, havendo alguns relatos da necessidade de transplante cardíaco nesta distrofia. 4
Abstract Emery-Dreifuss muscular dystrophy is a rare hereditary neuromuscular disease. Its manifestations begin primarily in childhood. The most frequent manifestations are progressive muscle weakness, atrophy that usually begins in the scapula-vertebral region, extending later to the pelvic girdle, and spinal stiffness. Patients can also manifest cardiac involvement as palpitations, syncope, exercise intolerance, congestive heart failure, and variable heart rhythm disturbances.1 - 3 The presence and severity of these manifestations can vary according to the individual and the disease's subtypes. 2 Cardiac involvement is the most worrisome feature of this disease, and there are some reports of the need for heart transplantation in this dystrophy. 4
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Objetivo:Descrever as atividades implementadas pelo enfermeiro no processo de captação de coração e pulmão em um centro transplantador brasileiro e sua implicação no aumento do número de transplantes realizados. Métodos: Estudo descritivo e observacional, com foco no organograma instituído sobre as atividades do enfermeiro para avaliação e o aceite do doador. Resultados:Com a formação da unidade, exclusivamente dedicada ao processo captação/transplante, houve entre os meses de agosto de 2013 e dezembro de 2021, um aumento de 138,18% na realização de transplantes cardíacos adultos, 76,54% nos transplantes pediátricos e/ou cardiopatias congênitas e 63,22% nos procedimentos de pulmão,quando comparado ao mesmo período dos anos anteriores.Conclusão: O estudo descreve pela primeira vez a importância da atuação do enfermeiro na implementação de um programa de transplantes de sucesso e como suas ações contribuíram para o aumento do número de procedimentos realizados e podem servir de modelo para outros centros.(AU)
Objective: To describe the activities performed by nurses in the heart and lung harvesting process in a Brazilian transplant center and their implication in the increase in the number of transplants performed. Methods: Descriptive and observational study, focusing on the organizational chart established on the activities of nurses for the evaluation and acceptance of the donor. Results: With the formation of the unit, exclusively dedicated to the capture/transplantation process, between August 2013 and December 2021, there was an increase of 138.18% in adult heart transplants, 76.54% in pediatric transplants and/ or congenital heart disease and 63.22% in lung procedures, when compared to the same period in previous years. Conclusion: The study describes for the first time the importance of nurses' performance in the implementation of a successful transplant program and how their actions contributed to the increase in the number of procedures performed and can serve as a model for other centers.(AU)
Objetivo: Describir las actividades realizadas por enfermeros en el proceso de extracción de corazón y pulmón en un centro de trasplante brasileño y su implicación en el aumento de trasplantes realizados. Métodos: Estudio descriptivo y observacional, con foco en el organigrama establecido sobre las actividades de los enfermeros para la evaluación y aceptación del donante. Resultados: Con la formación de la unidad, dedicada exclusivamente al proceso de captación/trasplante, entre agosto de 2013 y diciembre de 2021, hubo un aumento del 138,18% en trasplantes cardíacos adultos, 76,54% en trasplantes pediátricos y/o cardiopatías congénitas y 63,22% % en procedimientos pulmonares, en comparación con años anteriores. Conclusión: El estudio describe por primera vez la importancia de la actuación de los enfermeros en la implementación de un programa de trasplante exitoso y cómo sus acciones contribuyeron para el aumento del número de procedimientos realizados y pueden servir de modelo para otros centros.(AU)
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Donantes de Tejidos , Trasplante de Corazón , Trasplante de Pulmón , EnfermerosRESUMEN
INTRODUCTION: The use of mechanical circulatory support (MCS) in the pediatric population has evolved significantly in the past 20 years, but its management still poses several challenges. We aim to describe patient characteristics, outcomes, and morbidity associated with different modalities of MCS, in a tertiary center. METHODS: Retrospective analysis of data from all the children who underwent MCS between 2002 and 2018 at a pediatric cardiology unit. RESULTS: Between 2002 and 2018, 22 devices were implanted in 20 patients. Patients were divided into three groups: Group A (n=11) extracorporeal membrane oxygenator (ECMO); Group B (n=8) pulsatile paracorporeal ventricular assist device (VAD) and group C (n=3) paracorporeal continuous flow VAD. The median age was similar in groups A and B (18 and 23 months, respectively), and higher in group C (13 years). ECMO patients were cannulated mainly as a bridge to recovery (post cardiotomy- 8) while group B and C patients were bridged to transplantation. The most frequent complications were bleeding (group A - 36%, group C - 66.6%) and thromboembolic events (group B - 50%, group C - 33.3%). As for outcomes, in group A the majority of patients (54.5%) were weaned and 27.3% died. Half of group B and all of group C patients underwent transplantation. CONCLUSION: Bleeding and thromboembolic events were the main complications observed. Group B showed the highest mortality, probably related to the low weight of the patients. Overall, outcomes and complications are related to the type of device and patient status and characteristics.
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Este trabalho teve como objetivo identificar o custo do paciente internado para transplante cardíaco no Hospital das Clínicas da Universidade Federal de Minas Gerais nos anos de 2019 e 2020. Por meio da metodologia de custeio ABC e Diagrama de Pareto foram levantados os valores inerentes aos materiais, medicamentos e exames realizados pelos pacientes no período de internação em que ocorreram os transplantes. Também foram investigados os custos referentes ao tempo disponibilizado pela equipe cirúrgica e os custos relativos aos dias de internação em Unidade de Terapia Intensiva e Enfermaria. O método de pesquisa envolveu estudo de caso e pesquisa documental, especialmente prontuários físicos e eletrônicos dos pacientes, nos quais foram verificados os registros de dados clínicos. Os preços dos materiais, medicamentos e exames foram obtidos em bancos de dados utilizados pelo hospital como: Comprasnet, Banco de Preços, Painel de Preços e sistemas internos de gestão de compras. Os custos de internação foram levantados junto ao setor responsável pela apuração de custos do HC-UFMG, enquanto as informações utilizadas para cálculo do custo da equipe cirúrgica são provenientes do Portal da Transparência do Governo Federal e plano de cargos, carreiras e salários da Empresa Brasileira de Serviços Hospitalares e UFMG. Alcançado o objetivo foi produzido relatório situacional, que poderá ser utilizado pelas instituições de saúde como referência de pesquisa e negociação com os entes responsáveis pelo financiamento da saúde no Brasil, principalmente dos transplantes cardíacos. A pesquisa se mostrou relevante do ponto de vista clínico e de gestão, possibilitando uma visão sistêmica e integrada dos processos, à medida que amplia o conhecimento dos custos de uma importante linha de cuidado, além de contribuir com o redimensionamento de recursos e dar mais subsídios à tomada de decisão. Os resultados mostraram que no Hospital das Clínicas da UFMG o Custo do Transplante Cardíaco é de R$ 141.958,91.
This study aimed to identify the cost of patients hospitalized for heart transplantation at the Clinical Hospital of the Federal University of Minas Gerais in the years 2019 and 2020. Through the ABC costing methodology and Pareto's Diagram, the values inherent to the materials, drugs and diagnostic procedures to which the patients were submitted during the period of hospitalization for the transplant were raised. The costs related to the time made available by the surgical team and the costs related to the days of hospitalization in the Intensive Care Unit and ward were also investigated. The research method involved case study and documental research, especially physical and electronic patient records, in which clinical data records were verified. The prices of materials, medicines and exams were obtained from databases used by the hospital such as: Comprasnet, Price Bank, Price Panel and internal purchasing management systems. The hospitalization costs were collected from the sector responsible for calculating the costs of the HC-UFMG, while the information used to calculate the cost of the surgical team comes from the Federal Government's Transparency Portal and the and Empresa Brasileira de Serviços Hospitalares and UFMG's career and salary plan. Having achieved the objective, a situational report was produced, which can be used by health institutions as a reference for research and negotiation with the entities responsible for health financing in Brazil, especially heart transplants. The research proved to be relevant from a clinical and management point of view, enabling a systemic and integrated view of the processes, as it expands the knowledge of the costs of an important line of care, in addition to contributing to the resizing of resources and providing more subsidies to decision making. The results showed that at the Hospital das Clínicas da UFMG the cost of Heart Transplantation is R$ 141.958,91.
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Trasplante de Corazón , Gastos en Salud , Costos y Análisis de Costo , Tesis Académica , Hospitalización , Hospitales Públicos , Pacientes Internos , Tiempo de InternaciónAsunto(s)
Humanos , Trasplante de Corazón , Supervivencia de Injerto , Brasil , Estudios de Cohortes , InmunosupresoresRESUMEN
Resumo Fundamento: O transplante cardíaco é a principal alternativa terapêutica para pacientes com insuficiência cardíaca avançada. Diversos fatores de risco influenciam a sobrevivência desses pacientes, entretanto, poucos estudos acerca do tema estão disponíveis no Brasil. Objetivos: Analisar a sobrevivência de pacientes transplantados cardíacos pelo Sistema Único de Saúde no Brasil entre 2000-2015. Métodos: Trata-se de uma coorte não concorrente, aberta, de pacientes transplantados cardíacos no Brasil. A probabilidade acumulada de sobrevivência foi estimada por Kaplan-Meier e a comparação entre as curvas realizada pelo Teste de Log-Rank. O modelo de Cox foi utilizado para calcular o Hazard-Ratio (HR). As análises foram realizadas ao nível de 95% de confiança. Resultados: A mediana de sobrevivência do transplante cardíaco no Brasil no período foi 8,3 anos. Cada ano adicional na idade do receptor, a ocorrência de infecções e a realização do procedimento cirúrgico na região Sul relacionaram-se ao maior risco de perda do enxerto. Maior proporção de uso dos imunossupressores micofenolato e azatioprina atuou como fator protetor. Conclusões: As análises realizadas fornecem a primeira informação quanto ao tempo de sobrevivência mediana do transplante cardíaco no Brasil. A diferença observada entre as regiões pode estar relacionada aos diferentes protocolos de tratamento adotados no país, principalmente no início dos anos 2000. A proporção de uso de micofenolato e azatioprina como fator protetor sugere que, apesar de não haver diferença entre as estratégias terapêuticas, o uso desses medicamentos pode favorecer a sobrevida de determinados pacientes. O estudo apresenta dados epidemiológicos robustos e importantes para a saúde pública.
Abstract Background: Heart transplant is the main therapeutic alternative for advanced heart failure patients. Several risk factors affect these patients' survival; however, few studies about the topic are available in Brazil. Objectives: To review the survival rates of heart transplant patients in the Brazilian Public Health System (Sistema Único de Saúde - SUS) between 2000 and 2015. Methods: This is a non-concurrent, open cohort study, involving cardiac transplant patients in Brazil. The cumulative survival probability was estimated by the Kaplan-Meier curve, and the curve comparison was done using the Log-Rank test. The Cox model was used to calculate the Hazard-Ratio (HR). Analyses were conducted at the 95% confidence level. Results: The heart transplant survival rate median in Brazil, during the period, was 8.3 years. Each additional year in the recipient's age, the occurrence of infections, and the performance of the surgical procedure in the South Region were associated with a higher risk of graft loss. A higher use ratio of immunosuppressants mycophenolate and azathioprine acted as a protection factor. Conclusions: The analyses conducted provide the first information about the median survival time in heart transplant patients in Brazil. The difference noticed among the geographical regions may be related to the different treatment protocols adopted in the country, especially in the early 2000s. The rate of mycophenolate and azathioprine use as a protection factor suggests that, despite the absence of differences among therapeutic strategies, use of these drugs may favor survival of certain patients. The study provides robust epidemiological data, which are relevant for public health.
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Humanos , Trasplante de Corazón , Inmunosupresores , Brasil/epidemiología , Estudios Retrospectivos , Estudios de Cohortes , Supervivencia de InjertoRESUMEN
INTRODUCTION: Infection remains a major complication among heart transplant (HT) recipients, causing approximately 20% of deaths in the first year after transplantation. In this population, Aspergillus species can have various clinical presentations including invasive pulmonary aspergillosis (IPA), which has high mortality (53-78%). AIMS: To establish the characteristics of IPA infection in HT recipients and their outcomes in our setting. METHODS: Of 328 heart transplantations performed in our center between 1998 and 2016, five cases of IPA were identified. Patient medical records were examined and clinical variables were extracted. RESULTS: All cases were male, with a mean age of 62 years. The most common indication for HT was nonischemic dilated cardiomyopathy. Productive cough was reported as the main symptom. The imaging assessment was based on chest radiography and chest computed tomography. The most commonly reported radiological abnormality was multiple nodular opacities in both techniques. Bronchoscopy was performed in all patients and A. fumigatus was isolated in four cases on BAL culture. Treatment included amphotericin in four patients, subsequently changed to voriconazole in three patients, and posaconazole in one patient, with total treatment lasting an average of 12 months. Neutropenia was found in only one patient, renal failure was observed in two patients, and concurrent cytomegalovirus infection occurred in three patients. All patients survived after a mean follow-up of 18 months. CONCLUSIONS: IPA is a potentially lethal complication after HT. An early diagnosis and prompt initiation of aggressive treatment are the cornerstone for better survival.
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Trasplante de Corazón , Aspergilosis Pulmonar Invasiva , Anfotericina B , Aspergillus , Aspergillus fumigatus , Trasplante de Corazón/efectos adversos , Humanos , Aspergilosis Pulmonar Invasiva/diagnóstico , Masculino , Persona de Mediana EdadRESUMEN
INTRODUCTION AND AIMS: Cardiac allograft vasculopathy (CAV) is one of the most significant complications after orthotopic heart transplantation. We aimed to investigate the incidence and predictors of CAV in a large cohort of orthotopic heart transplantation patients. METHODS: We conducted a retrospective analysis on a prospective cohort of 233 patients who underwent transplantation between November 2003 and May 2014. Baseline clinical data and invasive coronary angiograms (n=712) performed as part of the follow-up program were analyzed by two independent investigators. RESULTS: We included 157 male and 45 female patients with a median age of 66 years. A third of patients had previous ischemic heart disease, 30% peripheral arterial disease, 37% hypertension and 47% dyslipidemia, and 17% were smokers. Acute moderate or severe rejection occurred in 42 patients during the first year. Over a median follow-up of 2920 days, 18% were diagnosed with CAV, with an incidence of 2.91 cases per 100 person-years. Predictors of CAV were previous ischemic heart disease (HR 2.32, 95% CI 1.21-4.45, p=0.01), carotid artery disease (HR 2.44, 95% CI 1.27-4.71, p<0.01), and donor age (HR 1.04, 95% CI 1.00-1.07, p=0.01). CONCLUSION: In a single-center cohort of orthotopic heart transplantation patients, predictors of CAV were previous ischemic heart disease, carotid artery disease and donor age.
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Estenosis Coronaria/epidemiología , Trasplante de Corazón/efectos adversos , Complicaciones Posoperatorias/epidemiología , Anciano , Aloinjertos , Angiografía Coronaria , Estenosis Coronaria/diagnóstico por imagen , Femenino , Oclusión de Injerto Vascular/epidemiología , Rechazo de Injerto/epidemiología , Factores de Riesgo de Enfermedad Cardiaca , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Abstract Background: The practice of screening for complications has provided high survival rates among heart transplantation (HTx) recipients. Objectives: Our aim was to assess whether changes in left ventricular (LV) and right ventricular (RV) global longitudinal strain (GLS) are associated with cellular rejection. Methods: Patients who underwent HTx in a single center (2015 - 2016; n = 19) were included in this retrospective analysis. A total of 170 biopsies and corresponding echocardiograms were evaluated. Comparisons were made among biopsy/echocardiogram pairs with no or mild (0R/1R) evidence of cellular rejection (n = 130 and n = 25, respectively) and those with moderate (2R) rejection episodes (n=15). P-values < 0.05 were considered statistically significant Results: Most patients were women (58%) with 48 ± 12.4 years of age. Compared with echocardiograms from patients with 0R/1R rejection, those of patients with 2R biopsies showed greater LV posterior wall thickness, E/e' ratio, and E/A ratio compared to the other group. LV systolic function did not differ between groups. On the other hand, RV systolic function was more reduced in the 2R group than in the other group, when evaluated by TAPSE, S wave, and RV fractional area change (all p < 0.05). Furthermore, RV GLS (−23.0 ± 4.4% in the 0R/1R group vs. −20.6 ± 4.9% in the 2R group, p = 0.038) was more reduced in the 2R group than in the 0R/1R group. Conclusion: In HTx recipients, moderate acute cellular rejection is associated with RV systolic dysfunction as evaluated by RV strain, as well as by conventional echocardiographic parameters. Several echocardiographic parameters may be used to screen for cellular rejection.
Resumo Fundamento: A prática de triagem para complicações tem proporcionado altas taxas de sobrevida entre pacientes que receberam transplante cardíaco (TC). Objetivos: Visamos avaliar se alterações no strain longitudinal global (SLG) do ventrículo esquerdo (VE) e do ventrículo direito (VD) estão associadas à rejeição celular. Métodos: Pacientes que foram submetidos à TC em um único centro (2015 - 2016; n = 19) foram incluídos nesta análise retrospectiva. Foram avaliados um total de 170 biópsias com ecocardiogramas correspondentes. Foram realizadas comparações entre pares de biópsia/ecocardiograma com nenhuma ou leve (0R/1R) evidência de rejeição celular (n = 130 e n = 25, respectivamente) e aqueles com episódios de rejeição moderada (2R) (n = 15). Foram considerados estatisticamente significativos os valores de p < 0,05. Resultados: A maioria dos pacientes eram mulheres (58%) com idade média de 48 ± 12,4 anos. Em comparação com os ecocardiogramas dos pacientes com rejeição 0R/1R, os pacientes com biópsias 2R apresentaram maior espessura da parede posterior do VE, relação E/e' e relação E/A, em comparação com o outro grupo. A função sistólica do VE não diferiu entre os grupos. Por outro lado, a função sistólica do VD foi reduzida no grupo 2R em comparação ao outro grupo, quando avaliada por TAPSE, onda S e variação fracional da área do VD. Adicionalmente, SLG VD (−22,97 ± 4,4% no grupo 0R/1R vs. −20,6 ± 4,9% no grupo 2R, p = 0,038) foi reduzido no grupo 2R, em comparação com o grupo 0R/1R. Conclusão: Em pacientes de TC, rejeição celular aguda moderada está associada à disfunção sistólica do VD, avaliado pelo strain do VD, bem como por parâmetros ecocardiográficos convencionais. Vários parâmetros ecocardiográficos podem ser utilizados para realizar triagem para rejeição celular.
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Humanos , Masculino , Femenino , Adulto , Trasplante de Corazón , Disfunción Ventricular Derecha/cirugía , Ecocardiografía , Estudios Retrospectivos , Función Ventricular Derecha , Disfunción Ventricular Izquierda , Rechazo de Injerto , Ventrículos Cardíacos , Persona de Mediana EdadRESUMEN
INTRODUCTION: Infection remains a major complication among heart transplant (HT) recipients, causing approximately 20% of deaths in the first year after transplantation. In this population, Aspergillus spp. can have various clinical presentations including invasive pulmonary aspergillosis (IPA), with high mortality (53-78%). OBJECTIVES: To establish the characteristics of IPA infection in HT recipients and their outcomes in our center. METHODS: Among 328 HTs performed in our center between 1998 and 2016, we identified five cases of IPA. Patient medical records were examined and clinical variables were extracted. RESULTS: All cases were male, and mean age was 62 years. The most common indication for HT was non-ischemic dilated cardiomyopathy. Productive cough was reported as the main symptom. The radiological assessment was based on chest X-ray and chest computed tomography. The most commonly reported radiographic abnormality was multiple nodular opacities in both techniques. Bronchoscopy was performed in all patients and Aspergillus fumigatus was isolated in four cases on bronchoalveolar lavage culture. Treatment included amphotericin in four patients, subsequently changed to voriconazole in three, and posaconazole in one patient, with total treatment lasting an average of 12 months. Neutropenia was found in only one patient, renal failure was observed in two patients, and concurrent cytomegalovirus infection in three patients. All patients were alive after a mean follow-up of 18 months. CONCLUSIONS: IPA is a potentially lethal complication after HT. Early diagnosis and prompt initiation of aggressive treatment are the cornerstone of better survival.
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Trasplante de Corazón/efectos adversos , Aspergilosis Pulmonar Invasiva/mortalidad , Complicaciones Posoperatorias/mortalidad , Receptores de Trasplantes , Anciano , Estudios de Seguimiento , Humanos , Aspergilosis Pulmonar Invasiva/diagnóstico , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico , Estudios Retrospectivos , Factores de Riesgo , España/epidemiología , Tasa de Supervivencia/tendencias , Tomografía Computarizada por Rayos XAsunto(s)
Humanos , Masculino , Adulto , Cardiomiopatía Chagásica/congénito , Cardiomiopatía Chagásica/patología , Trasplante de Corazón , Recurrencia , Trypanosoma cruzi/aislamiento & purificación , Biopsia , Imagen por Resonancia Magnética , Radiografía Torácica , Cardiomiopatía Chagásica/cirugía , Cardiomiopatía Chagásica/diagnóstico por imagen , ElectrocardiografíaRESUMEN
INTRODUCTION AND OBJECTIVES: Dilated cardiomyopathy (DCM) is a myocardial disease that can progress to a terminal stage, requiring heart transplantation. In this work we aim to contribute to knowledge of genetic variants in adult patients undergoing heart transplantation due to end-stage DCM, reporting the results obtained in our single-center tertiary hospital series using target next-generation sequencing (NGS). METHODS AND RESULTS: Genetic variants were screened in 15 genes, preselected based on variants previously identified in DCM patients. Thirteen unrelated patients were included, nine (69%) male, mean age at diagnosis 33±13 years, eight (62%) with familial DCM. Nine genetic variants were identified in six (46%) patients: five in LMNA, two in LBD3, one in TNNT2 and one in TCAP. These variants were new in most patients. The majority were classified as of uncertain significance. Two patients were double and triple heterozygotes in the LBD3 and LMNA genes, respectively. CONCLUSION: Our results highlight the potential of NGS in the genetic characterization of DCM patients. LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.