El péptido Pro-BNP como predictor de daño cardíaco en pacientes con esclerosis sistémica / Pro-BNP Peptide as a Predictor of Cardiac Damage in Systemic Sclerosis Patients

Introducción: La esclerosis sistémica es una enfermedad crónica del tejido conectivo de carácter autoinmune, de causa desconocida, que produce exceso de colágeno provocando fibrosis en la piel, con afectación de órganos internos. Los anticuerpos frecuentes son: antitopoisomerasa 1 y anticentrómero. Las formas clínicas son la cutánea difusa y cutánea limitada. La prevalencia de la afectación cardíaca varía entre un 8-28 por ciento y en fases tardías la presencia de signos y síntomas cardiovasculares es de mal pronóstico y una de las principales causas de mortalidad. Objetivo: Determinar la asociación entre afectación cardíaca y las formas clínicas, el pro-péptido natriurético cerebral N-terminal (NT-proBNP) y los autoanticuerpos en la esclerosis sistémica. Métodos: Se realizó un estudio descriptivo transversal de un universo de 140 pacientes, la muestra fue de 54 pacientes. Se le realizó ecocardiograma, niveles de NT-proBNP, anti-scl 70, anticentrómero y determinación de formas clínicas a todos los pacientes que cumplieron criterios de inclusión y que fueron atendidos en el Hospital: Hermanos Ameijeiras Habana-Cuba, entre julio de 2016 a diciembre de 2017. Resultados: La edad media fue 51,76 ± 12,82. Sexo femenino en un 96,3 por ciento. El 72,2 por ciento era piel blanca. La afectación cardíaca de la EScd fue de 77,5 por ciento, hormona NT-proBNP tuvo niveles elevados en un 55,0 por ciento. Los anti-scl-70 estuvieron negativos en el 70 por ciento (n = 28) de los pacientes con afectación cardíaca. El anti-centrómero estuvo negativo en el 95,0 por ciento (n = 38). Conclusiones: Se determinó que la afectación cardíaca en pacientes con esclerosis sistémica, es independiente de las formas clínicas y de la presencia de autoanticuerpos. Los pacientes que tuvieron los niveles séricos de NT-proBNP elevados presentaron afectación cardíaca(AU)

Introduction: Systemic sclerosis is a chronic autoimmune connective tissue disease of unknown cause, which produces excess collagen causing fibrosis in the skin, affecting internal organs. Common antibodies are antitopoisomerase 1 and anticentromere. The clinical forms are diffuse cutaneous and limited cutaneous. The prevalence of cardiac involvement varies between 8-28percent and in late stages the presence of cardiovascular signs and symptoms have poor prognosis and one of the main causes of mortality. Objective: To determine the association between cardiac involvement and clinical forms, N-terminal pro-brain natriuretic peptide (NT-proBNP) and autoantibodies in SSc. Methods: A cross-sectional descriptive study of a universe of 140 patients was carried out. Fifty four patients made up the sample. An echocardiogram, NT-proBNP, Anti-scl 70, anticentromere levels and determination of clinical forms were performed on all patients who met the inclusion criteria and who were treated at Hermanos Ameijeiras hospital in Havana, Cuba, from July 2016 to December 2017. Results: The mean age was 51.76 ± 12.82. Female sex accounted 96.3percent. 72.2percent were white skinned. Cardiac involvement of EScd was 77.5percent, NT-proBNP hormone had high levels in 55.0percent. Anti-scl-70 were negative in 70percent (n=28) of patients with cardiac involvement. Anti-centromere (ACT) was negative in 95.0percent (n=38). Conclusions: Cardiac involvement in patients with SS is independent of the clinical forms and the presence of autoantibodies. Patients with elevated NT-proBNP serum levels had cardiac involvement(AU)

Frecuencia de hipertensión pulmonar en pacientes con enfermedad pulmonar obstructiva crónica / Frequency of pulmonary hypertension in patients with chronic obstructive pulmonary disease

Introducción: La enfermedad pulmonar obstructiva crónica es uno de los padecimientos pulmonares más frecuente a nivel mundial. Tiene repercusión sobre la mortalidad, causa importante discapacidad y afecta un número considerable de sujetos en edad productiva. La hipertensión pulmonar es una complicación usual de las enfermedades respiratorias crónicas y en particular de la pulmonar obstructiva crónica. Objetivo: Caracterizar a pacientes con enfermedad pulmonar obstructiva crónica y sospecha de hipertensión pulmonar. Métodos: Se realizó un estudio descriptivo, prospectivo en 50 pacientes atendidos en el Hospital Neumológico Benéfico Jurídico desde noviembre 2016 a enero 2018. Se analizaron variables tales como la edad, el sexo, la prueba de función ventilatoria, la radiografía de tórax, el electrocardiograma y el ecocardiograma. Resultados: De 700 pacientes portadores de enfermedad pulmonar crónica, se sospechó hipertensión pulmonar en 7 por ciento y fue confirmada en 34. Las frecuencias por sexo fueron similares y primaron los mayores de 60 años. El 41,6 por ciento de los pacientes tuvo afectación respiratoria severa, 70,6 por ciento presentó hipertensión pulmonar ligera y 64,7 por ciento tenía disnea grado 3. Los índices kappa entre las técnicas utilizadas para el diagnóstico de la hipertensión pulmonar superaron la cifra de 0,74. Conclusiones: La frecuencia de hipertensión pulmonar en pacientes con enfermedad pulmonar obstructiva crónica fue elevada. Primaron pacientes con afectación severa de la función respiratoria e hipertensión pulmonar ligera. El grado de enfermedad pulmonar obstructiva crónica no determinó la severidad de hipertensión pulmonar. Los mayores valores de concordancia entre las técnicas diagnósticas se obtuvieron para la radiografía y el ecocardiograma(AU)

Introduction: Chronic obstructive pulmonary disease is one of the most frequent, worldwide. It has impact on mortality, causing significant disability and affecting a considerable number of subjects of productive age. Pulmonary hypertension is a common complication of chronic respiratory diseases, particularly chronic obstructive pulmonary disease. Objective: To describe patients with chronic obstructive pulmonary disease and suspected pulmonary hypertension. Methods: A descriptive, prospective study was carried out in 50 patients treated at Benéfico Jurídico Pneumological Hospital from November 2016 to January 2018. Variables such as age, sex, ventilatory function test, chest X-ray, electrocardiogram and the echocardiogram were analyzed. Results: Out of 700 patients with chronic lung disease, pulmonary hypertension was suspected in 7 por ciento and confirmed in 34. The frequencies by sex were similar and those older than 60 years prevailed. 41.6 por ciento of the patients had severe respiratory involvement, 70.6 por ciento had mild pulmonary hypertension and 64.7 por ciento had grade 3 dyspnea. The kappa indices between the techniques used for the diagnosis of pulmonary hypertension exceeded the figure of 0.74. Conclusions: The frequency of pulmonary hypertension in patients with chronic obstructive pulmonary disease was high. Patients with severe impairment of respiratory function and mild pulmonary hypertension predominated. The degree of chronic obstructive pulmonary disease did not determine the severity of pulmonary hypertension. The highest concordance values between diagnostic techniques were obtained for radiography and echocardiography(AU)

La epidemiología de la hipertensión pulmonar / The epidemiology of pulmonary hypertension

Desde las perspectivas actuales, la hipertensión pulmonar es considerada un importante problema sanitario. El objetivo del artículo fue identificar las características epidemiológicas e historia natural de la hipertensión pulmonar en el contexto internacional y principalmente en la región americana. El conocimiento de la epidemiología de la hipertensión pulmonar ha experimentado un notable desarrollo con los resultados de los registros americanos, franceses, suizos, entre otros. Reportes iniciales consideraban que la enfermedad afectaba a pacientes jóvenes (edad promedio 36 años), siendo casi dos veces más frecuente en mujeres que en varones (1,7:1) y con una incidencia de 1-2 casos/1 000 000 habitantes/año y afecta a todos los grupos etarios. Las estimaciones actuales sugieren una prevalencia alrededor del 1 por ciento de la población mundial y aumenta hasta el 10 por ciento en los mayores de 65 años. La enfermedad auricular o ventricular izquierda y las enfermedades pulmonares son la causa más frecuente de hipertensión pulmonar. En Cuba no hay datos epidemiológicos disponibles sobre esta entidad. Los programas que ayuden a su conocimiento por la población médica se deben reforzar e impulsar un registro único de datos(AU)

From current perspectives, pulmonary hypertension is considered a major health problem. The present work was carried out to identify the epidemiological characteristics and natural history of pulmonary hypertension in the international context and mainly in the Americas. Knowledge of the epidemiology of pulmonary hypertension has undergone a remarkable development with the results of the American, French, and Swiss registries, among others. Initial reports considered that the disease affected young patients (average age 36 years), being almost twice more frequent in women than in men (1.7:1) and with an incidence of 1-2 cases/1,000,000 inhabitants/ year and affects all age groups. Current estimates suggest a prevalence around 1 percent of the world population and increases to 10 percent in those over 65 years of age. Left atrial or left ventricular disease and pulmonary diseases are the most common cause of pulmonary hypertension. In Cuba there are no epidemiological data available on this entity. The programs that help their knowledge by the medical population must be reinforced and promote a single data registry(AU)

Hipertensión pulmonar. Definiendo la estructura y la función departamental a partir del riesgo / Pulmonary hypertension. Defining the structure and the departmental function based on risk

Se presenta un modelo departamental para la atención integral de pacientes con hipertensión pulmonar. Se resume el conocimiento actual de la hipertensión pulmonar, su mortalidad, pronóstico y la estratificación de su severidad que justifican la propuesta de la estructura y la función departamental.

A departmental model for the comprehensive care of patients with pulmonary hypertension is presented. The current knowledge of pulmonary hypertension, its mortality, prognosis and the stratification of its severity that justify the proposal of the departmental structure and function are summarized.

Risk factors of perinatal complications in patients with pulmonary hypertension underwent cesarean section in 4 Chinese centers / 中华心血管病杂志

Objective: To identify the risk factors related to perinatal complications in patients with pulmonary hypertension underwent cesarean section. Methods: We retrospectively analyzed the medical records of all pregnant women with pulmonary hypertension hospitalized in 4 different hospitals in Shandong province and underwent cesarean section between May 2010 and May 2020. Patients were divided into perinatal complication group and control group according to the presence or absence of perinatal complications. Perinatal complications included aggravated heart function, new onset arrythmias, sudden cardiac arrest, all-cause death within 42 days post cesarean section, postpartum bleeding and thrombotic events. Risk factors of perinatal complications were analyzed. Results: A total of 167 patients (47 cases in the perinatal complication group and 120 cases in the control group) were included in this study. The average age of this cohort was 28(24, 32) years, and 75(44.9%) patients suffered newly diagnosed pulmonary hypertension during pregnancy. The main cause of pulmonary hypertension was congenital heart disease (137(82.0%)). Age, pregnant weeks, percent of primipara, intra-cardiac shunt, and receiving targeted medication therapy, cardiac dimensions were similar between the two groups. A total of 62 complications were recorded in the complication group including 28 cases of aggravated heart function, 4 cases of new onset arrythmias, 2 cases of cardiac arrest, 11 cases of bleeding or thrombotic events and 17 patients were dead. Prevalence of idiopathic pulmonary hypertension and general anesthesia was significantly higher, functional capacity was significantly lower in perinatal complication group than in control group (all P<0.05). The estimated systolic pulmonary artery pressure, serum N-terminal pro-B type natriuretic peptide and total bilirubin (TBIL) levels were significantly higher in perinatal complication group than in control group (all P<0.05). Logistic analysis demonstrated WHO Function Class(FC) Ⅲ/Ⅳ (OR=2.416,95%CI 1.016-5.743, P=0.046) and TBIL level (OR=6.874,95%CI 1.643-28.757, P=0.008) were the independent risk factors of perinatal complications. Conclusion: TBIL and WHO FC are independent risk factors of perinatal complications in pregnant women with pulmonary hypertension underwent cesarean section.

Collaborative registry of pulmonary hypertension in Argentina (RECOPILAR). Final analysis / Registro colaborativo de hipertensión pulmonar en Argentina (RECOPILAR): análisis final

Abstract The epidemiology of pulmonary hypertension (PH), especially pulmonary arterial hypertension (PAH), has not been evaluated in our country, therefore there is no reference parameter to establishing the representativeness of this information in the national order. This registry represents the first collaborative effort to provide a knowledge base of this disease, including 5 scientific societies that represent different specialties (pediatrics, rheumatology, pulmonology and cardiology) with data from 23 Argentine provinces. These efforts involved five societies of various adult (cardiology, rheumatology, and pulmonology) and pediatric (cardiology) specialties. Subjects were grouped (1-5) in accord with the 2013 Nice classification. A total of 627 patients (mean age, 50.8±18 years; women, 69.2%) were recruited. Incident cases accounted for 53%. Functional class III-IV accounted for 69% at time of diagnosis and 33.4% at time of inclusion. Distributions in groups 1-5 were 63.6%, 15.9%, 8.3%, 9.7%, and 2.4%, respectively. Treatment consisted of diuretics (51.2%), mineralocorticoid receptor antagonists (44.7%), digoxin (16.6%), anticoagulants (39.2%), renin-angiotensin antagonists (15.5%), beta blockers (15.6%), and calcium channel blockers (8%). Rates of specific therapies usage in PAH vs. non-PAH group were 80.5% vs. 40.8% (phosphodiesterase-5 inhibitors: 71% vs. 38.6%; endothelin receptor antagonists: 54.4% vs. 14.5%; prostanoids: 14.3 vs. 3.1%; all p < 0.001). Three-year survival in PAH and non-PAH differed significantly (82.8% vs. 73.3%; p = 0.001). In the Argentine RECOPILAR registry, the clinic-epidemiologic profile was that of advanced-stage disease. Diagnostic workups and therapeutics interventions, including use of specific therapy for PAH, were consistent with current recommendations. Despite delays in diagnosis, survival was aligned with other contemporary registries.

Resumen La epidemiología de la hipertensión pulmonar (HP), especialmente la arterial (HAP), no ha sido evaluada en nuestro país, por lo cual no existe un parámetro de referencia para establecer la representatividad de esta información en el orden nacional. El presente registro representa el primer esfuerzo colaborativo para una base de conocimiento de esta enfermedad, incluyendo 5 sociedades científicas que representan a distintas especiali dades médicas (pediatría, reumatología, neumonología y cardiología) con datos de 23 provincias argentinas. Los sujetos se agruparon (1-5) de acuerdo con la clasificación de Niza de 2013. El seguimiento se completó en 583 pacientes (93%) un año después del final de la inscripción. Se incluyeron 627 pacientes (edad media, 50.8 ± 18 años; mujeres, 69.2%). Los casos incidentes representaron el 53%. La clase funcional III-IV representaba 69% en el momento del diagnóstico y 33.4% en el momento de la inclusión. Las manifestaciones clínicas fueron disnea (81.8%), fatiga (54.1%), síncope (10.8%), dolor torácico (14.7%), palpitaciones (20.9%) e insuficiencia cardíaca (20.4%). Las tasas de uso de terapias específicas en la hipertensión arterial pulmonar (HAP) frente al grupo sin HAP fueron del 80.5% frente al 40.8%. La supervivencia a tres años en los subconjuntos de HAP y no HAP difirió significativamente (82.8% vs. 73.3%; p = 0.001). En el registro RECOPILAR argentino, que aborda principalmente la HAP, el perfil clínico-epidemiológico fue el d e una enfermedad en estadios avanzados. El diag nóstico y las intervenciones terapéuticas, incluido el uso de terapia específica para la HAP, fueron consistentes con las recomendaciones actuales.

Hipertensión arterial pulmonar en pediatría / Pulmonary arterial hypertensión in children

La hipertensión arterial pulmonar (HAP) en pediatría comparte características comunes de la enfermedad en adultos, pero está asociada con varios trastornos y desafíos adicionales que requieren enfoques diferentes. En este artículo se analizan los avances recientes, los desafíos actuales y los distintos enfoques para el cuidado de niños con HAP. Se actualizan la definición, epidemiología, clasificación, diagnóstico y tratamiento. Se plantea el uso del cateterismo cardíaco como diagnóstico y las definiciones hemodinámicas de HAP, incluido el test de vasorreactividad. Se proporcionan actualizaciones sobre los enfoques pediátricos específicos del manejo médico e intervencionista de la HAP (incluyendo la derivación de Potts). Aunque la falta de datos de ensayos clínicos para el uso de la terapia dirigida a la HAP, los datos emergentes están mejorando la identificación de objetivos adecuados para la terapia orientada a objetivos en niños.(AU)

Pulmonary arterial hypertension (PAH) in children shares the typical features of the disease in adults, but is associated with different disorders and additional challenges that require different approaches. This article discusses recent developments, current challenges, and different approaches to PAH care in children. Definition, epidemiology, classification, diagnosis, and treatment are updated. The use of cardiac catheterization as a diagnostic tool and hemodynamic definitions of PAH are proposed, including the vasoreactivity test. Updates are provided on specific pediatric approaches to the medical and interventional management of PAH (including Potts shunt). In spite of the lack of clinical trial data for the use of PAH-targeted therapy, emerging data are improving the identification of appropriate targets for therapy in children (AU)

Relapsing polychondritis: prevalence of cardiovascular diseases and its risk factors, and general disease features according to gender / Policondrite recidivante: prevalência de doenças cardiovasculares e seus fatores de risco e características gerais da doença de acordo com o gênero

ABSTRACT The comorbidities in relapsing polychondritis have been scarcely described in the literature. Moreover, apart from a few relapsing polychondritis epidemiological studies, no studies specifically addressing relapsing polychondritis distribution according to gender are available. Therefore, the objectives of the present study were: (a) to analyze the prevalence of cardiovascular diseases and its risk factors in a series of patients with relapsing polychondritis; (b) to determine the influence of gender on relapsing polychondritis. A cross-sectional tertiary single center study evaluating 30 relapsing polychondritis cases from 1990 to 2016 was carried out. To compare comorbidities, 60 healthy individuals matched for age-, gender-, ethnicity- and body mass index were recruited. The mean age of relapsing polychondritis patients was 49.0 ± 12.4 years, the median disease duration 6.0 years, and 70% were women. A higher frequency of arterial hypertension (53.3% vs. 23.3%; p = 0.008) and diabetes mellitus (16.7% vs. 3.3%; p = 0.039) was found in the relapsing polychondritis group, compared to the control group. As an additional analysis, patients were compared according to gender distribution (9 men vs. 21 women). The clinical disease onset features were comparable in both genders. However, over the follow-up period, male patients had a greater prevalence of hearing loss, vestibular disorder and uveitis events, and also received more cyclophosphamide therapy (p < 0.05). There was a high prevalence of arterial hypertension and diabetes mellitus, and the male patients seemed to have worse prognosis than the female patients in the follow up.

RESUMO Há escassez de estudos na literatura sobre as comorbidades na policondrite recidivante (PR). Além disso, exceto por alguns estudos epidemiológicos sobre a PR, não existem trabalhos que analisem especificamente a distribuição da PR de acordo com o gênero. Portanto, os objetivos do presente estudo foram: (a) analisar a prevalência de doenças cardiovasculares e seus fatores de risco em uma série de pacientes com PR; (B) determinar a influência do gênero na PR. Fez-se um estudo transversal unicêntrico que avaliou 30 casos de PR entre 1990 e 2016. Para comparar as comorbidades, foram recrutados 60 indivíduos saudáveis pareados por idade, gênero, etnia e índice de massa corporal. A idade média dos pacientes com PR foi de 49,0 ± 12,4 anos. A duração média da doença foi de 6,0 anos e 70% eram mulheres. Foi observada uma maior frequência de hipertensão arterial (53,3% vs. 23,3%, p = 0,008) e diabetes mellitus (16,7% vs. 3,3%; p = 0,039) no grupo PR em comparação com o grupo controle. Em uma análise adicional, os pacientes foram comparados de acordo com a distribuição de gênero (nove homens versus 21 mulheres). As características clínicas iniciais da doença foram comparáveis em ambos os sexos. No entanto, durante o período de seguimento, os pacientes do sexo masculino tiveram maior prevalência de perda auditiva, envolvimento vestibular e eventos de uveíte e também receberam mais tratamento com ciclofosfamida (p < 0,05). Houve uma alta prevalência de hipertensão arterial e diabetes mellitus e os pacientes do sexo masculino apresentaram pior prognóstico do que as pacientes do sexo feminino no seguimento.

Risk factors for pulmonary hypertension in patients receiving maintenance peritoneal dialysis

We investigated the risk factors for pulmonary hypertension (PH) in patients receiving maintenance peritoneal dialysis (MPD). A group of 180 end-stage renal disease patients (124 men and 56 women; mean age: 56.43±8.36) were enrolled in our study, which was conducted between January 2009 and June 2014. All of the patients received MPD treatment in the Dialysis Center of the Second Affiliated Hospital of Soochow University. Clinical data, laboratory indices, and echocardiographic data from these patients were collected, and follow-ups were scheduled bi-monthly. The incidence and relevant risk factors of PH were analyzed. The differences in measurement data were compared by t-test and enumeration data were compared with the χ2 test. Among the 180 patients receiving MPD, 60 were diagnosed with PH. The remaining 120 were regarded as the non-PH group. Significant differences were observed in the clinical data, laboratory indices, and echocardiographic data between the PH and non-PH patients (all P<0.05). Furthermore, hypertensive nephropathy patients on MPD showed a significantly higher incidence of PH compared with non-hypertensive nephropathy patients (P<0.05). Logistic regression analysis showed that the proportion of internal arteriovenous fistula, C-reactive protein levels, and ejection fraction were the highest risk factors for PH in patients receiving MPD. Our study shows that there is a high incidence of PH in patients receiving MPD and hypertensive nephropathy patients have an increased susceptibility to PH.

Hipertensión pulmonar en pacientes con fibrosis pulmonar y sobrevida post-trasplante pulmonar / Pulmonary hypertension in patients with pulmonary fibrosis and survival after lung transplant

Introduction: The presence ofpulmonary hypertension (PH) in patients with pulmonary fibrosis is a predictor of severity andpoor survival in patients awaiting lung transplantation. Little is known about the impact of PH on survival after lung transplantation. Objective: To evaluate the effect of PH in pulmonary fibrosis patient survival after lung transplantation. Methods: Retrospective study ofpatients diagnosed with pulmonary fibrosis subjected to lung transplantation at the Instituto Nacional del Tórax during the period of August 2010 to June 2015. Thresholds of > 25 and > 35 mm Hg were chosen for mean pulmonary artery pressure (PAmean) and systolic pulmonary artery pressure (PAsystolic), respectively as indicators of PH. Results: Out of a total of 63 patients undergoing lung transplantation during the 2010-2015 period, 42 patients were diagnosed with pulmonary fibrosis. 35 of these patients had histologic diagnosis of usual interstitial pneumonia (UIP) and 7 of extrinsic allergic alveolitis in fibrotic stage. Of the total 25 patients with pulmonary fibrosis (60 percent) had PH in the pre-transplant period. A total of 15 patients died during the follow-up. There was no significant difference in survival between patients with and without PH (p = 0.74). Conclusions: Similar to international studies, we observed that the presence of PH in patients with pulmonary fibrosis did not increase risk of death in post-transplant period.

Introducción: La presencia de hipertensión pulmonar (HTP) en pacientes con fibrosis pulmonar es un predictor de gravedad y pobre sobrevida en pacientes en espera de trasplante pulmonar. Poco se sabe del impacto de la HTP en la sobrevida de los pacientes en el período post trasplante. Objetivo: Evaluar el efecto de la HTP en la sobrevida de los pacientes con fibrosis pulmonar sometidos a trasplante pulmonar. Material y Método: Estudio retrospectivo de pacientes con diagnóstico de fibrosis pulmonar sometidos a trasplante pulmonar en el Instituto Nacional de Tórax durante el período de agosto de 2010 a junio de 2015. Los criterios diagnósticos de hipertensión pulmonar fueron: presión de arteria pulmonar media mayor o igual a 25 mmHg y/o presión sistólica de arteria pulmonar mayor o igual a 35 mmHg. Resultados: De un total de 63 pacientes sometidos a trasplante pulmonar durante el período 2010-2015 en el Hospital del Tórax, 42 pacientes tenían diagnóstico de fibrosis pulmonar. De estos, 35 pacientes tenían diagnóstico histológico de neumonía intersticial usual (UIP) y 7 de alveolitis alérgica extrínseca en etapa fibrótica. Del total de pacientes con fibrosis pulmonar, 25 (60 por ciento) presentaba HTP en el período pre trasplante. Un total de 15 pacientes fallecieron durante el seguimiento. Al comparar la sobrevida post trasplante de pacientes con HTP vs sin HTP no se observó diferencia significativa (p = 0,74). Conclusiones: Al igual que en estudios internacionales, no observamos que la presencia de HTP en pacientes con fibrosis pulmonar aumente el riesgo de muerte en el período post-trasplante.

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil / Síndrome de Down: prevalência e distribuição de cardiopatia congênita no Brasil

ABSTRACT CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING : Cross-sectional study conducted in a referral center. METHODS : Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS : Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION : The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.

RESUMO CONTEXTO E OBJETIVO : A síndrome de Down é a anomalia genética mais comum e afeta 1/700 nascidos vivos. Entre os achados clínicos, uma preocupação constante é a alta prevalência de cardiopatia congênita e o objetivo do presente estudo é determinar a prevalência e o perfil de cardiopatia congênita em pacientes atendidos em um ambulatório de síndrome de Down no período de 2005 a 2013 no sul do Brasil. TIPO DE ESTUDO E LOCAL : Estudo transversal conduzido em um centro de referência. MÉTODOS : Foi realizada coleta retrospectiva de dados de 1.207 prontuários de pacientes com síndrome de Down, com 604 (50,0%) diagnosticados com cardiopatia congênita. Os dados foram submetidos a análise descritiva, utilizando-se o programa Statistica. RESULTADOS : Entre os 604 pacientes com cardiopatia congênita, 338 (55,8%) eram do sexo masculino e 269 (44,5%) do feminino. A cardiopatia mais comum foi comunicação interatrial, observada em 254 (42,1%) pacientes, defeito de septo atrioventricular total, em 91 (15,1%), comunicação interatrial em conjunto com comunicação interventricular, em 88 (14,6%), comunicação interventricular, em 77 (12,7%), persistência do canal arterial, em 40 (6,6%), forame oval patente, em 34 (5,6%), tetralogia de Fallot, em 12 (2%) e outras cardiopatias observadas em oito (1,3%) pacientes. Hipertensão pulmonar esteve presente em 57 (9,4%). Do total, 150 (24,8%) pacientes foram submetidos a cirurgia cardíaca. CONCLUSÃO : A elevada prevalência das cardiopatias congênitas nos pacientes do ambulatório da síndrome de Down, de 50%, semelhante à encontrada em outros estudos, justifica a investigação no período neonatal, com diminuição da mortalidade e morbidade.

Hipertensão pulmonar secundária a cardiopatias congênitas: onde estamos e onde podemos chegar / Pulmonary hypertension secondary to congenital heart disease: where we are and where we can go

A prevalência da hipertensão pulmonar associada às cardiopatias congênitas(HAP-CCG) é estimada em 1,6-12,5 casos por um milhão de adultos, com 25-50% destes pacientes exibindo a forma mais séria da doença, a síndrome de Eisenmenger. Mais de 90% dos pacientes portadores de cardiopatias congênitas com comunicações simples entre as circulações sistêmica e pulmonar são submetidos à correção cirúrgica ou percutânea dos defeitos ainda na infância. Entretanto 5 a 10% dos pacientes portadores destes defeitos não apresentam esse padrão, mesmo na presença de comunicações não restritivas, com risco maior de complicações graves no pós-operatório, incluindo falência ventricular direita e óbito. A avaliação e o manejo clínico dos pacientes com HAP-CCG devem ser individualizadas devido à grande multiplicidade de situações. Envolve uma ampla faixa etária, com formas de apresentação muito distintas e diferentes problemas a serem equacionados. Ainda hoje a literatura é escassa no que diz respeito ao manejo medicamentoso, principalmente dentro da faixa etária pediátrica. As perspectivas futuras são na direção de expansão do conhecimento fisiopatológico, incluindo aspectos genéticos, com o objetivo de melhora progressiva tanto na avaliação precoce quanto na conduta terapêutica para esses pacientes.

The prevalence of pulmonary hypertension associated with congenital heart disease(PHT-CHD) is estimated at 1.6-12.5 cases per million adults, with 25%-50% of these presenting the most serious form of the disease: Eisenmenger’s syndrome. More than 90% of patients with congenital heart disease with simple communications between the systemic and pulmonary circulations under go surgical or percutaneous correction of the defects while still in infancy. However, 5% to 10% of patients with these defects do not present this same pattern, even in the presence of non-restrictive communications, with a higher risk of severe postoperative complications, including right ventricular failure and death. The evaluation and clinical management of patients with PHT-CHD should be individualized , due to the great multiplicity of situations. It involves a wide age range, with very distinct forms of presentation and different problems to be resolved. The literature still lacks studieson drug management, particularly in pediatric patients. The future prospects are towards the expansion of physio-pathological knowledge, including genetic aspects, with the aim of gradually improving both early evaluation and therapeutic conduct for these patients.

Inhaled therapy for the management of perioperative pulmonary hypertension.

Patients with pulmonary hypertension (PH) are at high risk for complications in the perioperative setting and often receive vasodilators to control elevated pulmonary artery pressure (PAP). Administration of vasodilators via inhalation is an effective strategy for reducing PAP while avoiding systemic side effects, chiefly hypotension. The prototypical inhaled pulmonary‑specific vasodilator, nitric oxide (NO), has a proven track record but is expensive and cumbersome to implement. Alternatives to NO, including prostanoids (such as epoprostenol, iloprost, and treprostinil), NO‑donating drugs (sodium nitroprusside, nitroglycerin, and nitrite), and phosphodiesterase inhibitors (milrinone, sildenafil) may be given via inhalation for the purpose of treating elevated PAP. This review will focus on the perioperative therapy of PH using inhaled vasodilators.

Combined pulmonary fibrosis and emphysema with pulmonary arterial hypertension: A Rare Case Report.

Combined pulmonary fi brosis and emphysema (CPFE) is a recently recognized radiologically defi ned syndrome characterized by simultaneous coexistence of both upper lobe emphysema and lower lobe pulmonary fi brosis. We present a case of CPFE in a 57-year-old male smoker who presented with dry cough, progressive breathlessness, and swelling of feet. His chest X-ray revealed bilateral lower Zone reticulonodular opacities with hyperlucent upper Zones. Pulmonary function tests showed wellpreserved lung volumes and reduced diff using capacity of the lung for carbon monoxide. High-resolution computed tomogram showed bilateral lower lobe subpleural honeycombing along with fi brosis and traction bronchiectasis with bilateral upper lobe emphysema predominantly paraseptal type. His 2D echo was suggestive of moderate pulmonary arterial hypertension.

Informe de evaluación rápida de tecnología sobre seguridad y efectividad de bosentán para hipertensión arterial pulmonar / Rapid evaluation report of technology on safety and effectiveness of bosentan for pulmonary arterial hypertension

La hipertensión pulmonar arterial (HPA) es una enfermedad rara, con una prevalencia de aproximadamente 15 a 50 casos por millón. Es de mayor prevalencia en ciertos grupos, como por ejemplo, pacientes infectados con VIH, pacientes con esclerosis múltiple, con enfermedad sickle cell, entre otros. No existe mucha información al respecto en Latinoamérica. La incidencia de esta enfermedad es de aproximadamente 2.4 casos por millón de habitantes (según información mexicana). En Argentina han calculado en base a información internacional - 1 a 2 casos por millón de habitantes - que existen entre 600 a 2000 pacientes con la enfermedad a un promedio de 90 a 300 casos nuevos por año. En Chile se acoge a la incidencia de 1-2 pacientes nuevos por millón de habitantes por año. Actualización en el diagnóstico y terapéutica en hipertensión pulmonar arterial. La HPA afecta con mayor frecuencia a las mujeres en una relación 1,7:1 y, comúnmente, se expresa en la cuarta década de la vida. Debido a lo poco específico de sus síntomas, desafortunadamente la mayoría de los diagnósticos se dan en estadios avanzados de la enfermedad (III y IV). El diagnóstico habitualmente es efectuado entre 18 y 24 meses posteriores al inicio de los síntomas, debido al carácter inespecífico de ellos, tales como disnea, fatiga o dolor torácico, de modo que es frecuente pesquisar enfermos con severa limitación funcional y estrecho margen terapéutico. La terapia con bosentán mejora los síntomas y hemodinamia en pacientes con hipertensión pulmonar aguda. Se recomienda cubrir con restricciones.(AU)

Hipertensão pulmonar associada à anemia falciforme / Sickle cell disease-associated pulmonary hypertension

A hipertensão pulmonar é uma complicação comum em pacientes com anemia falciforme. A despeito das elevações leves das pressões pulmonares, a morbimortalidade desses pacientes é alta e a hipertensão pulmonar é um fator de risco muito importante nestes pacientes. A patogênese da hipertensão pulmonar relacionada à anemia falciforme é multifatorial e inclui a hemólise, baixos níveis de óxido nítrico, hipóxia crônica, tromboembolismo, doença hepática crônica e asplenia. Na maioria dos pacientes, hipertensão arterial pulmonar é a causa principal para elevações na pressão arterial pulmonar, mas hipertensão pulmonar venosa também é um fator contribuinte em alguns pacientes. Existem poucos estudos específicos avaliando os efeitos de tratamento para a hipertensão pulmonar em pacientes com anemia falciforme. É provável que a intensificação da terapia para a anemia hemolítica em todos os pacientes e tratamento específico para a hipertensão pulmonar em pacientes com hipertensão pulmonar severa seja benéfica...

Pulmonary hypertension is a common complication of sickle cell disease. In spite of the mild elevations in pulmonary artery pressures in these patients, morbidity and mortality is high and in adult patients with sickle cell disease, pulmonary hypertension is emerging as a major risk factor for death. The pathogenesis of pulmonary hypertension is likely multifactorial, including hemolysis, impaired nitric oxide bioavailability, chronic hypoxemia, thromboembolism, chronic liver disease and asplenia. In the majority of patients with sickle cell disease, pulmonary arterial hypertension is the cause of elevated pulmonary artery pressures, but also that pulmonary venous hypertension does contribute to pulmonary hypertension in a subgroup of patients. There are currently limited specific data on the effects of any treatment modality for pulmonary hypertension in patients with sickle cell disease. It is likely that maximization of sickle cell disease therapy, in all patients, and treatment with selective pulmonary vasodilators and antiproliferative agents, in patients with severe disease, would be beneficial...

Hipertensão arterial pulmonar na esclerodermia / Pulmonary arterial hypertension on systemic sclerosis

A esclerodermia é uma multissistêmica caracterizada por vasculopatia generalizada, autoimunidade e fibrose orgânica. A hipertensão arterial pulmonar (HAP) é a expressão do acometimento vascular na circulação pulmonar. É a principal causa de mortalidade na esclerodermia. Atualmente prevalência da hipertensão arterial na esclerodermia é estimada em 10%. As manifestações clínicas são inespecíficas e procedimentos anuais de triagem devem ser realizados para seu diagnóstico. O ecocardiograma transtorácico fornece diversos sinais indiretos de HAP tais como aumento da velocidade tricúspide e disfunção de ventrículo direito. Atualmente, a triagem da HAP é realizada através de algoritmos compostos onde o ecocardiograma é indicado após outros exames de triagem. O diagnóstico da HAP é confirmado pelo cateterismo do ventrículo direito. O tratamento deve ser realizado com um fármaco dos três grupos de fármacos específicos. Resultados de registros recentes indicaram que preditivos de pior prognóstico são idade avançada, sexo masculino, teste da caminhada < 165m e alta resistência vascular periférica. A sobrevivência foi maior nos pacientes que receberam diagnóstico precoce e tratamento com novos fármacos específicos. A HAP associada à esclerodermia é uma complicação comum e de alta mortalidade. Estudos recentes sugerem que o diagnóstico precoce seguido da instituição de terapia específica podem aumentar a sobrevivência destes pacientes...

Systemic sclerosis is a systemic disease characterized by generalized vasculopathy, autoimmunity and organic fibrosis. Pulmonary artery hypertension (PAH) is the expression of the vascular involvement in the pulmonary circulation. It is the main cause of mortality in systemic sclerosis.At the present the prevalence of PAH on systemic sclerosis is estimated at 10%. The clinical manifestations are nonspecific and annual screening procedures should be performed for its diagnosis. The transthoracic echocardiogram provides several indirect signs of PAH, this include increase on the tricuspid regurgitation velocity and right ventricle disfunction. Currently, the screening of PAH is performed according to composed algorithms were the echocardiogram is indicated after other screening. The diagnosis of PAH is confirmed by the right ventricule catheterization. The treatment should be done with one drug of the three groups of specific drugs. Recent results od registries disclosed that bad prognosis predictors are: old age, male sex, six minute walk test < 165 and high peripheral vascular resistance. The survival was higher in patients that had early diagnosis and treatment with specific drugs. PAP associated to systemic sclerosis is a frequent and severe complication. Recent studies sugest that early diagnosis followed by introduction of specific medication can increase the survival in these patients...

Hipertensão arterial pulmonar idiopática / Idiopathic pulmonar arterial hypertension

A hipertensão arterial pulmonar idiopática (HAPI) constitui o protótipo da hipertensão arterial pulmonar, fazendo parte da classificação clínica internacional de hipertensão pulmonar. O termo idiopático é reservado para a classificação da forma esporádica de hipertensão arterial pulmonar (HAP), desde que nenhuma causa aparente ou identificável esteja presente. A confirmação de caso de HAPI deve ser feito após extensa investigação diagnóstica. As outras condições que compõem o Grupo 1 compartilham com ela características histopatológicas e hemodinâmicas e constituem, como classe, o grupo mais avaliado quanto à eficácia e segurança dos medicamentos atualmente disponíveis para o seu tratamento...

Idiopathic pulmonary arterial hypertension (IPAH) is the prototype of pulmonary arterial hypertension syndrome, part of the international clinical classification of pulmonary hypertension. The term idiophatic is reserved for classification of the sporadic form of pulmonary arterial hypertension (PAH), provided that no apparent or identifiable cause is present. Confirmation of case HAPI should be done after extensive diagnostic investigation. The other conditions that make up the Group 1 share it with histopathologic and hemodynamic characteristics and are, as a class, the most evaluated group regarding the efficacy and safety of drugs currently available for its treatment...

Tireoidite de Hashimoto pode estar associada a um subgrupo de pacientes de esclerose sistêmica com hipertensão pulmonar / Hashimoto thyroiditis may be associated with a subset of patients with systemic sclerosis with pulmonary hypertension

Introdução: Estudos recentes mostram associação entre tireoidites autoimunes e esclerose sistêmica (ES), e sugerem que essa condição pode interferir no fenótipo da ES. Entretanto, esses estudos avaliam as tireoidites autoimunes como um todo e nenhum deles aborda especificamente a tireoidite de Hashimoto (TH) na ES. Objetivo: Investigar a presença de TH em pacientes com ES e sua possível associação com as manifestações da doença. Casuística e métodos: Manifestações clínicas de hipotireoidismo, TSH, T4 livre e anticorpos antitireoidanos (anti-TPO, anti TBG e TRAb) foram pesquisados em 56 pacientes com ES. Pacientes com ES e TH foram comparados com pacientes com ES sem tireoidite. Resultados: TH foi observada em 19,64% dos pacientes com ES. Não foi encontrada associação entre a TH e as diferentes formas de doença ou com o perfil de autoanticorpos. Da mesma forma, não houve diferença entre a média do escore de Rodnan modificado e entre a presença de fenômeno de Raynaud, cicatrizes estelares, necrose digital, miosite, artrite, sintomas sicca, dismotilidade esofágica ou crise renal esclerodérmica quando os grupos foram comparados. Por outro lado, pacientes com TH apresentaram maior frequência de hipertensão pulmonar quando comparados a pacientes sem TH (66,6% vs 22,5%; p = 0,016). Conclusões: Na amostra de ES estudada, a TH está associada a uma maior prevalência de hipertensão pulmonar. Estudos de seguimento a longo prazo, englobando um número maior de pacientes com ES e TH, são necessários para confirmar esses dados. .

Introduction: Recent studies show an association between autoimmune thyroiditis and systemic sclerosis (SSc) and suggest that this condition may interfere with the ES phenotype. However these studies evaluate the autoimmune thyroiditis as a whole and none of them specifically addresses Hashimoto's thyroiditis (HT) in SSc. Objective: To investigate the presence of HT in SSc patients and its possible association with disease manifestations. Methods: Clinical manifestations of hypothyroidism, TSH and anti-thyroid auto antibodies (anti-TPO. anti TBG and TRAb) were studied in 56 patients with SSc. SSc patients with HT were compared with SSc patients without thyroiditis. Results: HT was observed in 19.64% of patients with SSc. No association was observed between HT and the different forms of disease or profile of autoantibodies. Likewise, there was no difference between the mean modified Rodnan score and presence of Raynaud's phenomenon, scars, digital necrosis, myositis, arthritis, sicca symptoms, esophageal dysmotility and scleroderma renal crisis when the groups were compared. On the other hand, patients with HT had higher frequency of pulmonary hypertension in relation to patients without HT (66.6% vs 22.5%, p = 0.016). Conclusions: In the studied sample patients with ES and HT had higher prevalence of pulmonary hypertension. Long-term follow-up studies with a larger number of TH and SSc patients are needed to confirm these data. .