RESUMEN
AIMS: Cardiotrophin-1 (CT-1) is a cytokine that induces hypertrophy in cardiomyocytes and is associated with left ventricular hypertrophy (LVH) in hypertensive patients. The objective of this study was to evaluate whether plasma CT-1 is associated with hypertrophic cardiomyopathy (HCM). METHODS AND RESULTS: The study was performed in 124 patients with HCM. All patients underwent a full clinical evaluation and an echocardiogram. Left ventricular hypertrophy was evaluated by the measurement of the maximal LV wall thickness and the Spirito's LVH score. Plasma CT-1 was measured by an enzyme-linked immunosorbent assay. Compared with controls, patients with HCM exhibited higher (P < 0.001) plasma CT-1 levels. Significant correlations were found between CT-1 and maximal LV wall thickness (r = 0.284, P = 0.001) and the Spirito's LVH score (r = 0.287, P = 0.006) in HCM patients. In addition, the levels of CT-1 were higher (P = 0.02) in patients with severe LVH (maximal LV wall thickness ≥30 mm) than in patients with mild or moderate LVH (maximal LV wall thickness <30 mm). CONCLUSIONS: These findings show that plasma CT-1 is associated with the severity of LVH in patients with HCM. Further studies are required to ascertain whether CT-1 is a diagnostic biomarker of this cardiomyopathy.
Asunto(s)
Cardiomiopatía Hipertrófica/diagnóstico , Citocinas/sangre , Hipertrofia Ventricular Izquierda/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Cardiomiopatía Hipertrófica/sangre , Estudios de Casos y Controles , Electrocardiografía Ambulatoria , Prueba de Esfuerzo , Femenino , Humanos , Hipertrofia Ventricular Izquierda/sangre , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVE: to assess the accuracy of paired estimated fetal weights (EFWs) to predict three levels of twin birth weight discordance (>15%, >20% and >25%). METHOD: a cohort of twin pairs underwent ultrasound examinations within 2 weeks from birth. We calculated the frequency of under- and overestimation of the actual birth weight (< or >10%, respectively) in the entire cohort as well in the subset of mono- and dichorionic pairs. RESULTS: discordance was largely underestimated (observed 10.4 ± 0.8% compared to actual 19.2 ± 1.1%, P=0.001) because the larger twin was more frequently underestimated [30.6 vs. 17.7%, odds ratio (OR) 2.0, 95% confidence interval (CI) 1.1, 3.9 in the entire cohort, and 34.2 vs. 13.1%, OR 3.4, 95% CI 1.4, 8.4 in the dichorionic pairs]. Overall, the specificity for detecting the three levels of discordance was adequate (91.5-94.2%) but the sensitivity was poor (11.1-17.8%) and tended to decrease with increasing discordance level. CONCLUSION: the poor ability of paired EFWs to diagnose birth weight discordance results from underestimation of the larger twin.
Asunto(s)
Peso al Nacer/fisiología , Embarazo Múltiple/fisiología , Gemelos/fisiología , Ultrasonografía Prenatal/métodos , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Embarazo , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
OBJETIVO: comparar parto e seguimento de gravidez entre grávidas adolescentes e não-adolescentes que pariram num hospital terciário da região de Lisboa (Portugal). MÉTODOS: estudo retrospectivo com 10.656 partos. Foram avaliados: seguimento da gravidez, idade gestacional no parto, tipo de parto, necessidade de episiotomia e lacerações graves, índice de Apgar no quinto minuto e peso ao nascer. As grávidas foram divididas em dois grupos, acima e abaixo dos 20 anos. O grupo abaixo dos 20 anos foi depois subdividido entre grávidas com menos ou mais de 16 anos. Foi usado o teste do χ2 para análise estatística. RESULTADOS: as adolescentes tiveram pior seguimento: primeira consulta após as 12 semanas (46,4 versus 26,3 por cento) e menos de quatro consultas (8,1 versus 3,1 por cento), menos distocia (21,5 versus 35,1 por cento), menos cesarianas (10,6 versus 20,7 por cento) e menor necessidade de indução do trabalho de parto (16,5 versus 26,5 por cento). Não houve diferença significativa para idade gestacional no parto e taxa de recém-nascidos de baixo peso. Entre adolescentes, as menores de 16 anos tiveram mais recém-nascidos de baixo peso (12 versus 7,4 por cento) e mais partos entre 34 e 37 semanas (10,8 versus 4,2 por cento). CONCLUSÕES: num hospital com serviço dedicado a grávidas adolescentes com apoio social e psicológico, apesar de pior seguimento pré-natal vigilância, o seu desempenho não foi pior. Uma atenção especial deve, no entanto, ser dada a grávidas abaixo dos 16 anos.
PURPOSE: to compare delivery and pregnancy follow-up among adolescent and non-adolescent pregnant women whose delivery occurred in a tertiary hospital from Região de Lisboa (Portugal). METHODS: retrospective study with 10,656 deliveries. Pregnancy follow-up, delivery type, need of episiotomy and severe lacerations, Apgar index at the fifth minute and the delivery weight have been evaluated. The pregnant women were divided into two groups, over and under 20 years old. The group with women under 20 was further subdivided in pregnant women under or over 16. The χ2 test has been used for statistical analysis. RESULTS: adolescents presented worse follow-up: first appointment after 12 weeks (46.4 versus 26.3 percent) and less than four appointments (8.1 versus 3.1 percent), less dystocia (21.5 versus 35.1 percent), less caesarian sections (10.6 versus 20.7 percent), and lower need for inducing labor (16.5 versus 26.5 percent). There was no significant difference concerning gestational age at delivery and ratio of low weight newborns. Among adolescents, the ones under 16 had more low weight newborns (12 versus 7.4 percent) and more deliveries between 34 and 37 weeks (10.8 versus 4.2 percent). CONCLUSIONS: in a hospital attending adolescents with social and psychological support, the fact of them having had a worse follow-up in the pre-natal phase, their performance has not been worse. Nevertheless, special attention might be given to pregnant women under 16.
Asunto(s)
Adolescente , Femenino , Humanos , Recién Nacido , Embarazo , Embarazo en Adolescencia , Resultado del Embarazo , Estudios RetrospectivosRESUMEN
PURPOSE: to compare delivery and pregnancy follow-up among adolescent and non-adolescent pregnant women whose delivery occurred in a tertiary hospital from Região de Lisboa (Portugal). METHODS: retrospective study with 10,656 deliveries. Pregnancy follow-up, delivery type, need of episiotomy and severe lacerations, Apgar index at the fifth minute and the delivery weight have been evaluated. The pregnant women were divided into two groups, over and under 20 years old. The group with women under 20 was further subdivided in pregnant women under or over 16. The chi2 test has been used for statistical analysis. RESULTS: adolescents presented worse follow-up: first appointment after 12 weeks (46.4 versus 26.3%) and less than four appointments (8.1 versus 3.1%), less dystocia (21.5 versus 35.1%), less caesarian sections (10.6 versus 20.7%), and lower need for inducing labor (16.5 versus 26.5%). There was no significant difference concerning gestational age at delivery and ratio of low weight newborns. Among adolescents, the ones under 16 had more low weight newborns (12 versus 7.4%) and more deliveries between 34 and 37 weeks (10.8 versus 4.2%). CONCLUSIONS: in a hospital attending adolescents with social and psychological support, the fact of them having had a worse follow-up in the pre-natal phase, their performance has not been worse. Nevertheless, special attention might be given to pregnant women under 16.
Asunto(s)
Resultado del Embarazo , Embarazo en Adolescencia , Adolescente , Femenino , Humanos , Recién Nacido , Embarazo , Estudios RetrospectivosRESUMEN
The Peripartum Cardiomyopathy is a rare form of heart disease, of uncertain etiology, more common in black and multiparous women, older than thirty years old. Is defined as development of maternal congestive heart failure, in the last month of pregnancy or within five months after delivery, with documented left ventricular systolic dysfunction, in the absence of a demonstrable cause for heart failure in a previously healthy woman. The diagnosis is commonly established with chest radiography, electrocardiogram and echocardiography. Treatment consist in medical therapy with inotropic support, afterload and preload redution, and anticoagulation. Surgical care with cardiac transplantation is indicated in severe cases with progressive left ventricular dysfunction, despite medical therapy. Prognosis seems dependent on recovery of left ventricular function and maternal mortality rates could reach 50%. Future pregnancy is not recommended in woman with persistent ventricular dysfunction. The authors present a case report in a black nuliparous woman at term, with 33 years old, without previous heart disease that presents a sudden heart failure, with ventricular dysfunction on echocardiography, after the caesarean, with recovery of normal ventricular function at 11th day of puerperium.
Asunto(s)
Insuficiencia Cardíaca , Trastornos Puerperales , Disfunción Ventricular , Adulto , Femenino , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/terapia , Humanos , Trastornos Puerperales/diagnóstico , Trastornos Puerperales/terapia , Disfunción Ventricular/diagnóstico , Disfunción Ventricular/terapiaRESUMEN
Idiopathic dilated cardiomyopathy (DCM) is a familial disease in at least 20 to 30% of all cases. Knowledge of the genetic basis of familial DCM has been obtained only recently. Mutations in the genes responsible for sarcomere and cytoskeletal protein synthesis have been identified as the cause of DCM, and several hypotheses have been put forward to explain the etiology and pathology of the disease. However, DCM has several causes, and a number of environmental factors influence its course. This review aims to describe the current status of research on familial DCM in the areas of genetics and molecular biology, and to report the clinical applications of this new knowledge. Cooperation between clinical researchers and colleagues in molecular genetics is essential for progress in enhancing our knowledge of this disease.
Asunto(s)
Cardiomiopatía Dilatada/genética , Investigación Biomédica , Cardiomiopatía Dilatada/diagnóstico , Humanos , Mutación , Sarcómeros/genéticaRESUMEN
La miocardiopatía dilatada (MCD) idiopática es una enfermedad familiar en al menos un 20-30% de los casos. El conocimiento de las bases genéticas de la miocardiopatía dilatada familiar es muy reciente. Se han identificado mutaciones en genes responsables de la síntesis de proteínas del sarcómero y del citoesqueleto como causantes de MCD, y se han propuesto varias hipótesis para explicar la etiopatogenia de esta enfermedad. Sin embargo, la MCD es una enfermedad poligénica, en cuyo desarrollo influyen factores ambientales diversos. Esta revisión pretende describir la situación actual del estudio de la MCD familiar desde un punto de vista de la genética y la biología molecular, así como de la aplicación clínica de los nuevos conocimientos. La colaboración entre investigación clínica y genética molecular es imprescindible para avanzar en el conocimiento de esta enfermedad (AU)
Idiopathic dilated cardiomyopathy (DCM) is a familial disease in at least 20 to 30% of all cases. Knowledge of the genetic basis of familial DCM has been obtained only recently. Mutations in the genes responsible for sarcomere and cytoskeletal protein synthesis have been identified as the cause of DCM, and several hypotheses have been put forward to explain the etiology and pathology of the disease. However, DCM has several causes, and a number of environmental factors influence its course. This review aims to describe the current status of research on familial DCM in the areas of genetics and molecular biology, and to report the clinical applications of this new knowledge. Cooperation between clinical researchers and colleagues in molecular genetics is essential for progress in enhancing our knowledge of this disease (AU)
Asunto(s)
Humanos , Cardiomiopatía Dilatada/genética , Biología Molecular/métodos , Predisposición Genética a la Enfermedad , Enfermedades Genéticas Congénitas , Proteínas del Citoesqueleto , SarcómerosRESUMEN
OBJECTIVE: To evaluate the prevalence, clinical features, and pattern of inheritance of familial dilated cardiomyopathy (DCM) in heart transplant patients. PATIENTS AND METHOD: Patients with idiopathic DCM who had undergone heart transplantation were invited to participate. Patients with alcohol abuse were excluded. A clinical evaluation, 12-lead ECG, echocardiogram, blood tests, and DNA extraction were performed in patients and relatives. Familial DCM was defined as the presence of at least one relative with idiopathic DCM. Possible familial DCM was considered when at least one relative had left ventricular enlargement (LVE) (> 112% predicted LVEDD). RESULTS: One hundred and ninety-nine relatives of 43 families were studied. DCM was familial in 11 probands (25.6%) and possibly familial in 11 (25.6%). Fifteen relatives had DCM (7.5%), 26 (13.1%) LVE, and 5 (2.5%) hypertrophic cardiomyopathy. The pattern of inheritance was autosomal dominant in most families. Five probands (3 with familial DCM) had antecedents of consanguinity and possible recessive inheritance. Six probands (14%, 1 with familial DCM) had relatives with conduction system defects. Creatine kinase was moderately increased in 9 relatives (4.5%), 3 of them with LVE. Fifteen patients had at least moderate alcohol intake. Three of them had familial DCM (relatives without alcohol abuse) and 6 had possible familial DCM. CONCLUSIONS: The prevalence of familial DCM is high in patients who undergo heart transplant. Left ventricular enlargement, conduction system abnormalities, and elevated creatine kinase may be early markers of familial disease. Hypertrophic cardiomyopathy is present in some relatives of patients with idiopathic DCM. Familial DCM is present in patients with a previous diagnosis of alcoholic DCM.
Asunto(s)
Cardiomiopatía Dilatada/genética , Cardiomiopatía Dilatada/cirugía , Trasplante de Corazón , Biomarcadores , Cardiomegalia/genética , Cardiomiopatía Dilatada/epidemiología , Distribución de Chi-Cuadrado , Consanguinidad , Creatina Quinasa/sangre , Interpretación Estadística de Datos , Femenino , Genes Dominantes , Humanos , Masculino , Linaje , Prevalencia , Estudios Prospectivos , Estudios RetrospectivosRESUMEN
Objetivo. Estudiar la prevalencia de miocardiopatía dilatada (MCD) familiar en pacientes trasplantados, los patrones de herencia y características de la enfermedad en las familias identificadas. Pacientes y método. Los pacientes trasplantados por MCD idiopática fueron invitados a participar en el estudio: evaluación clínica, electrocardiograma, ecocardiograma y análisis de sangre en pacientes y familiares. Se define como MCD familiar la presencia de al menos un familiar con MCD idiopática y posible MCD familiar cuando algún familiar tiene dilatación ventricular izquierda (diámetro telediastólico > 112 por ciento del previsto) con función sistólica normal. Resultados. Participaron 199 familiares de 43 familias. Se diagnosticó MCD familiar en 11 familias (25,6 por ciento) y posible MCD familiar en 11 (25,6 por ciento). Quince familiares tenían MCD (7,5 por ciento), 26 (13,1 por ciento) dilatación ventricular izquierda, y cinco (2,5 por ciento) miocardiopatía hipertrófica. El patrón de herencia fue autosómico dominante en la mayor parte de las familias. En cinco existía consanguinidad y posible herencia autosómica recesiva. Seis casos tenían familiares con trastornos de conducción. Se registraron cifras de creatincinasa elevadas en 9 familiares (4,5 por ciento), tres con dilatación ventricular izquierda. Quince pacientes referían consumo de alcohol al menos moderado. Tres de ellos tenían MCD familiar y seis posible MCD familiar. Conclusiones. a) La prevalencia de MCD familiar es alta en pacientes sometidos a trasplante; b) la dilatación ventricular izquierda, anomalías del sistema de conducción y elevaciones de la creatincinasa pueden ser marcadores precoces de enfermedad familiar; c) algunos pacientes con MCD idiopática tienen familiares con miocardiopatía hipertrófica, y d) puede haber MCD familiar en pacientes con MCD asociada a consumo de alcohol (AU)