Calidad de vida relacionada con la salud en niños con cardiopatía congénita operados durante el primer año de vida / Health related quality of life in children with congenital heart disease that undergo cardiac surgery during their first year of life

Introducción. En las últimas décadas, el desarrollo de métodos diagnósticos, técnicas quirúrgicas y cuidados intensivos, aumentó la sobrevida de los niños con cardiopatía congénita. En este contexto, las secuelas a largo plazo adquirieron mayor relevancia. La calidad de vida relacionada con la salud mide el impacto de las enfermedades crónicas. Nuestro objetivo fue describir la calidad de vida relacionada con la salud en pacientes con cardiopatía congénita operados durante el primer año de vida.Población y métodos. Estudio observacional, transversal, realizado entre agosto de 2017 y diciembre de 2018 en un hospital general universitario. Se utilizó el cuestionario PedsQL 4.0, versión genérica. Se incluyeron pacientes de entre 2 y 4 años con cardiopatía congénita operados durante el primer año de vida y niños sanos. Se compararon los resultados con T-Test o Wilcoxon según la distribución observada. Se consideró significativo el valor de p < 0,05.Resultados. Se incluyeron 31 pacientes. El 26 % tenían ventrículo único. La primera cirugía fue, en un 61,3 %, en el período neonatal. No hubo diferencia (p = 0,10) entre la calidad de vida relacionada con la salud global de la población con cardiopatía congénita y de los niños sanos. Sin embargo, se observaron puntajes más bajos con diferencia estadísticamente significativa en las esferas social (p = 0,0092) y escolar (p = 0,0001).Conclusiones. Nuestra cohorte de niños con cardiopatía congénita tiene una calidad de vida global comparable con la de los niños sanos, excepto en las escalas correspondientes a funcionamiento social y escolar.

Introduction. Advances in diagnostic methods, surgical techniques and postoperative intensive care have significantly increased the survival rates for children with congenital heart disease.In this context, long term sequelae acquired greater relevance. Health-related quality of life (HRQOL) is a concept that helps to measure the impact of chronic diseases.The purpose of the current study was to describe HRQOL in children with congenital heart disease that undergo cardiac surgery during their first year of life.Methods. A cross-sectional observational study was conducted between August 2017 and December 2018 at a University General Hospital. PedsQL 4.0 Generic Core Scales were used.Children with congenital heart disease between 2 and 4 years old who had cardiac surgery during their first year of life and healthy children were included.Scores were compared with T-test or Wilcoxon according to the observed distribution. p value < 0.05 was considered significant.Results. A total of 31 children with congenital heart disease (26 % with a single ventricle) and 62 healthy children were enrolled. The first surgery was in the neonatal period in 61.3 %.Our study showed no statistical differences (p = 0.10) between HRQOL Total Scale Score of children with congenital heart disease compared to healthy children. However, lower scores were observed with statistically significant differences in social (p = 0.0092) and school (p = 0.0001) scales.Conclusions. Our cohort of children diagnosed with congenital heart disease has a global quality of life comparable with healthy children except in social and school functioning scales.

Health related quality of life in children with congenital heart disease that undergo cardiac surgery during their first year of life. / Calidad de vida relacionada con la salud en niños con cardiopatía congénita operados durante el primer año de vida.

INTRODUCTION: Advances in diagnostic methods, surgical techniques and postoperative intensive care have significantly increased the survival rates for children with congenital heart disease. In this context, long term sequelae acquired greater relevance. Health-related quality of life (HRQOL) is a concept that helps to measure the impact of chronic diseases. The purpose of the current study was to describe HRQOL in children with congenital heart disease that undergo cardiac surgery during their first year of life. METHODS: A cross-sectional observational study was conducted between August 2017 and December 2018 at a University General Hospital. PedsQL 4.0 Generic Core Scales were used. Children with congenital heart disease between 2 and 4 years old who had cardiac surgery during their first year of life and healthy children were included. Scores were compared with T-test or Wilcoxon according to the observed distribution. p value < 0.05 was considered significant. RESULTS: A total of 31 children with congenital heart disease (26 % with a single ventricle) and 62 healthy children were enrolled. The first surgery was in the neonatal period in 61.3 %. Our study showed no statistical differences (p = 0.10) between HRQOL Total Scale Score of children with congenital heart disease compared to healthy children. However, lower scores were observed with statistically significant differences in social (p = 0.0092) and school (p = 0.0001) scales. CONCLUSIONS: Our cohort of children diagnosed with congenital heart disease has a global quality of life comparable with healthy children except in social and school functioning scales.

Introducción. En las últimas décadas, el desarrollo de métodos diagnósticos, técnicas quirúrgicas y cuidados intensivos, aumentó la sobrevida de los niños con cardiopatía congénita. En este contexto, las secuelas a largo plazo adquirieron mayor relevancia. La calidad de vida relacionada con la salud mide el impacto de las enfermedades crónicas. Nuestro objetivo fue describir la calidad de vida relacionada con la salud en pacientes con cardiopatía congénita operados durante el primer año de vida. Población y métodos. Estudio observacional, transversal, realizado entre agosto de 2017 y diciembre de 2018 en un hospital general universitario. Se utilizó el cuestionario PedsQL 4.0, versión genérica. Se incluyeron pacientes de entre 2 y 4 años con cardiopatía congénita operados durante el primer año de vida y niños sanos. Se compararon los resultados con T-Test o Wilcoxon según la distribución observada. Se consideró significativo el valor de p < 0,05. Resultados. Se incluyeron 31 pacientes. El 26 % tenían ventrículo único. La primera cirugía fue, en un 61,3 %, en el período neonatal. No hubo diferencia (p = 0,10) entre la calidad de vida relacionada con la salud global de la población con cardiopatía congénita y de los niños sanos. Sin embargo, se observaron puntajes más bajos con diferencia estadísticamente significativa en las esferas social (p = 0,0092) y escolar (p = 0,0001). Conclusiones. Nuestra cohorte de niños con cardiopatía congénita tiene una calidad de vida global comparable con la de los niños sanos, excepto en las escalas correspondientes a funcionamiento social y escolar.

Cardiopatías congénitas, diagnóstico y manejo prenatal / Congenital heart disease, prenatal diagnosis and management

Dentro de las malformaciones congénitas, las cardiopatías son las anomalías más frecuentes y se asocian a una elevada morbimortalidad perinatal y a largo plazo. El objetivo de esta actualización es revisar la tasa de detección prenatal, las características del tamizaje a lo largo del embarazo, tanto en el primero como en el segundo trimestre, las indicaciones de ecocardiografía avanzada, y establecer un algoritmo de manejo ante el diagnóstico prenatal de una cardiopatía congénita. Se discutirán los estudios invasivos y no invasivos que pueden realizarse y el seguimiento obstétrico. Finalmente, se revisarán las características principales de la terapia fetal en anomalías cardíacas, tanto intervencionismo cardíaco como el tratamiento intrauterino de las arritmias.

Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, long-term morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.

Congenital heart disease, prenatal diagnosis and management. / Cardiopatías congénitas, diagnóstico y manejo prenatal.

Among congenital malformations, heart defects are the most common type of anomaly, and these are associated with a high perinatal, longterm morbidity and mortality. The objective of this update was to review the rate of prenatal detection, screening characteristics throughout the pregnancy, in both the first and second trimesters, indications for advanced echocardiography, and to establish a management algorithm in case of prenatal diagnosis of a congenital heart disease. Potential invasive and non-invasive tests and obstetric follow-up will be discussed here. Finally, the main characteristics of fetal therapy in heart anomalies will be reviewed, both cardiac interventions and intrauterine treatment of arrhythmias.

Dentro de las malformaciones congénitas, las cardiopatías son las anomalías más frecuentes y se asocian a una elevada morbimortalidad perinatal y a largo plazo. El objetivo de esta actualización es revisar la tasa de detección prenatal, las características del tamizaje a lo largo del embarazo, tanto en el primero como en el segundo trimestre, las indicaciones de ecocardiografía avanzada, y establecer un algoritmo de manejo ante el diagnóstico prenatal de una cardiopatía congénita. Se discutirán los estudios invasivos y no invasivos que pueden realizarse y el seguimiento obstétrico. Finalmente, se revisarán las características principales de la terapia fetal en anomalías cardíacas, tanto intervencionismo cardíaco como el tratamiento intrauterino de las arritmias.

Oiigen anomalo de la arteria coronaiia derecha de la arteiia pulmonar en un lactante con soplo cardiaco: A proposito de un caso / Anomalous origin of the right coronary artery from the pulmonary artery in an infant with a heart murmur: Case report

El origen anómalo de la arteria coronaria derecha de la arteria pulmonar es una entidad rara con una incidencia del 0,002 % y potencialmente grave, que puede causar muerte súbita. El diagnóstico frecuentemente es incidental, secundario a evaluaciones por soplos cardíacos a diferencia del origen anómalo de la arteria coronaria izquierda de la arteria pulmonar, reconocido por presentar isquemia miocárdica e insuficiencia cardíaca. Se reporta el caso de una niña de 6 meses evaluada por un soplo y derivada por sospecha de fístula coronaria. La evaluación mediante ecocardiograma doppler color, cateterismo cardíaco y angiotomografía mostró la presencia de una comunicación interauricular ostium secundum pequeña y origen anómalo de la arteria coronaria derecha de la arteria pulmonar. A los 11 meses, se realizó una cirugía de reimplante de la arteria coronaria derecha en la arteria aorta y el cierre de la comunicación interauricular.

The anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) is a rare entity that has an incidence of 0.002 % and can potentially cause sudden death. Unlike to the anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA), usually presented with myocardial ischemia and heart failure; the diagnosis of ARCAPA is often incidental during evaluation of a heart murmur. We report a case of a 6 months old female patient referred to us with a cardiac murmur and a suspicion of coronary fistula. For a proper diagnostic assessment an echocardiogram, a computed tomography angiography and a cardiac catheterization were requested. A small ostium secundum-type atrial septal defect (ASD) and an ARCAPA were revealed. At 11 months old, the patient was scheduled for corrective cardiovascular surgery. The aim of this report is to describe a low incidence and potentially fatal disease.

Anomalous origin of the right coronary artery from the pulmonary artery in an infant with a heart murmur: Case report. / Oiigen anomalo de la arteria coronaiia derecha de la arteiia pulmonar en un lactante con soplo cardiaco: A proposito de un caso.

The anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) is a rare entity that has an incidence of 0.002 % and can potentially cause sudden death. Unlike to the anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA), usually presented with myocardial ischemia and heart failure; the diagnosis of ARCAPA is often incidental during evaluation of a heart murmur. We report a case of a 6 months old female patient referred to us with a cardiac murmur and a suspicion of coronary fistula. For a proper diagnostic assessment an echocardiogram, a computed tomography angiography and a cardiac catheterization were requested. A small ostium secundum-type atrial septal defect (ASD) and an ARCAPA were revealed. At 11 months old, the patient was scheduled for corrective cardiovascular surgery. The aim of this report is to describe a low incidence and potentially fatal disease.

El origen anómalo de la arteria coronaria derecha de la arteria pulmonar es una entidad rara con una incidencia del 0,002 % y potencialmente grave, que puede causar muerte súbita. El diagnóstico frecuentemente es incidental, secundario a evaluaciones por soplos cardíacos a diferencia del origen anómalo de la arteria coronaria izquierda de la arteria pulmonar, reconocido por presentar isquemia miocárdica e insuficiencia cardíaca. Se reporta el caso de una niña de 6 meses evaluada por un soplo y derivada por sospecha de fístula coronaria. La evaluación mediante ecocardiograma doppler color, cateterismo cardíaco y angiotomografía mostró la presencia de una comunicación interauricular ostium secundum pequeña y origen anómalo de la arteria coronaria derecha de la arteria pulmonar. A los 11 meses, se realizó una cirugía de reimplante de la arteria coronaria derecha en la arteria aorta y el cierre de la comunicación interauricular.

Validación de un modelo de predicción de necesidad de cirugía cardiovascular o cateterismo terapéutico neonatal en fetos con cardiopatías congénitas / Validation of a prediction model for need of neonatal cardiac surgery or catheter-based therapy in fetuses with congenital heart defects

INTRODUCCIÓN: el diagnóstico prenatal de las cardiopatías congénitas, con nacimiento en centros especializados, permite disminuir la morbimortalidad. Se ha desarrollado un modelo predictivo de necesidad de tratamiento cardíaco intervencionistaneonatal (TCIN) (cirugía cardiovascular y/o cateterismo cardíacoterapéutico) a partir de hallazgos en vistas ecográficas de pesquisa del corazón fetal. Con este modelo sería posible seleccionar a quienes requieren derivación prenatal. OBJETIVOS: Validar dicho modelo predictivo. MÉTODOS: Se llevó a cabo un estudio de cohorte de validación, prospectivo y multicéntrico. Se realizó análisis de regresión logística univariado y multivariado, valoración de calibración del modelo mediante test de Hosmer-Lemeshow, y de discriminaciónmediante valoración de área bajo la curva ROC (Receiver OperatingCharacteristic). RESULTADOS: En 58 (51,8%) de 112 pacientes incluidos se requirió TCIN. La adecuación del ajuste del modelo no resultó estadísticamente significativa (p 0,232), y la discriminación fue buena (área bajo la curva ROC 0,833; IC95%: 0,757-0,909). Para un punto de corte de 0,3 (a partir del cual el riesgo de necesidad de TCIN resultó significativo en el modelo original), hubo sensibilidad de 96,6%, especificidad de 55,6%, valor predictivo positivo de 70% y negativo de 93,8%. CONCLUSIONES: La aplicación del modelo estudiado en fetos con cardiopatías congénitas es factible, presenta una capacidad diagnóstica satisfactoria y constituye una herramienta útil para el manejo perinatal.

INTRODUCTION: prenatal diagnosis of congenital heart diseases allows timely in-utero referral to specialized centersand reduces the risk of morbidity and mortality. A model was developed to predict the need of neonatal cardiac surgery or catheter-based therapy in fetuses with congenital heart defects.With this model, based on fetal cardiac ultrasonographic findings, it would be possible to select patients in need of prenatal referral. OBJECTIVES: To validate such predictive model. METHODS: A prospective multicenter cohort validation study was conducted.Univariate and multivariate logistic regression analysis was performed, evaluating calibration by Hosmer-Lemeshow test and discrimination by area under the curve (AUC) of the receiver operating characteristic (ROC). RESULTS: In 58 (51.8%) of the 112 patients, neonatal cardiac surgery or catheter-based therapy was needed. There was no significant difference between observed and predicted event rates (p 0.232), and discrimination wassatisfactory (AUC of the ROC 0.833; CI95%: 0.757-0.909). For a cut-off probability of 0.3 (that showed significant risk of need for neonatal cardiac invasive therapy in the original model), sensitivity was 96.6%, specificity 55.6%, positive predictive value 70% and negative predictive value 93.8%. CONCLUSIONS: Theapplication of this predictive model in fetuses with congenital heart defects is feasible, shows a good diagnostic ability and can be a useful tool for perinatal management.

Prenatal diagnosis of CHDs: a simple ultrasound prediction model to estimate the probability of the need for neonatal cardiac invasive therapy.

OBJECTIVES: To develop a prediction model based on echocardiographic findings to estimate the probability of the need for neonatal cardiac invasive therapy, including cardiac surgery or catheter-based therapy, in foetuses with CHD. METHODS: Retrospective cohort study: a prediction model was developed based on echocardiographic findings on the examination of the four-chamber, the three-vessel, and the three-vessel and tracheal views. We assessed performance using the area under the curve of the receiver operating characteristic. RESULTS: Among 291 patients with prenatal diagnosis of CHD and complete follow-up, 175 (60.1%) required neonatal cardiac invasive therapy. The variables "functionally single ventricle", "great artery reverse flow", and "congenital heart block" had a discrimination value of 100% and were excluded from the model. In univariate and multivariate analysis, "non-visualisation of a great vessel", "asymmetry of the great vessels", "visualisation of one atrioventricular valve", and "ventricular asymmetry" were significantly associated with the need for neonatal cardiac invasive therapy. The area under the receiver operating characteristic curve was 0.9324 (95% CI 0.92-0.97). CONCLUSIONS: A prediction model based on echocardiographic findings in foetuses with CHD, even without a definite diagnosis, allows an accurate estimation of the probability of requiring neonatal cardiac invasive therapy. This can modify patient care, especially in regions where a Foetal Medicine Specialist or a Paediatric Cardiologist is not available and referral may be extremely difficult due to social and economic barriers.

International Fetal Cardiac Intervention Registry: A Worldwide Collaborative Description and Preliminary Outcomes.

BACKGROUND: Invasive fetal cardiac intervention (FCI) has been reported in single-institution series, promoting technical and physiologic success. OBJECTIVES: This study describes the creation of an international registry of cases presenting for FCI, intended to compile technical and outcome data from a multicenter cohort. METHODS: For this initial analysis, the entire database of the International Fetal Cardiac Intervention Registry (IFCIR) was queried for details of diagnoses, procedures, and outcomes. Maternal-fetal dyads from January 2001 through June 2014 were included. RESULTS: Eighteen institutions submitted data by data harvest. Of 370 cases entered, 245 underwent FCI: 100 aortic valvuloplasties from a previous single-center report (excluded from additional reporting here), an additional 86 aortic and 16 pulmonary valvuloplasties, 37 atrial septal cases, and 6 unclassified cases. FCI did not appear to affect overall survival to hospital discharge. Among live-born infants with a fetal diagnosis of aortic stenosis/evolving hypoplastic left heart syndrome, more than twice as many were discharged with biventricular circulation after successful FCI versus those meeting institutional criteria but without any or successful FCI (42.8% vs. 19.4%, respectively). When fetal deaths were counted as treatment failures, the percentages were similar: biventricular circulation at discharge was 31.3% versus 18.5% for those discharged with univentricular palliation. Survival to discharge for live-born fetuses with atrial restriction was similar to that of those undergoing technically successful versus unsuccessful FCI (63.6% vs. 46.7%, respectively), although criteria for diagnosis were nonuniform. CONCLUSIONS: We describe the contents of the IFCIR and present post-natal data to suggest potential benefit to fetal therapy among pregnancies considered for possible intervention and support proposals for additional work.

Fetal intervention for critical aortic stenosis: advances, research and postnatal follow-up.

PURPOSE OF REVIEW: Fetal aortic valvuloplasty is intended to alter the natural history of aortic stenosis evolving to hypoplastic left heart syndrome. The most recently reported data and advances on this procedure were reviewed. RECENT FINDINGS: The highlights of the latest experience are the advances in further understanding of the prenatal and postnatal natural history of this disease, and the way in which fetal aortic valvuloplasty impacts on it, the identification of new predictors of biventricular outcome, and the report of postnatal survival of intervened patients. Recently reported short-term and middle-term results are encouraging. Experimental research on procedural aspects is ongoing, with no definite results. Multicenter studies are also ongoing. SUMMARY: In recent years, there have been advances in the understanding of the prenatal and postnatal process of aortic stenosis evolving to hypoplastic left heart syndrome and the effects of fetal aortic valvuloplasty, as well as the need of adequate postnatal therapeutic strategies for these patients. Procedural aspects are being studied with animal models, but still need far more experience before human application. Long-term results are still to be discovered, and multicenter studies may provide a new perspective. Continuing research is mandatory so that ultimately fetal heart intervention finds its place among the therapeutic resources for congenital heart disease.

International fetal cardiac intervention registry: a worldwide collaborative description and preliminary outcomes

BACKGROUND: Invasive fetal cardiac intervention (FCI) has been reported in single-institution series, promoting technical and physiologic success. OBJECTIVES: This study describes the creation of an international registry of cases presenting for FCI, intended to compile technical and outcome data from a multicenter cohort. METHODS: For this initial analysis, the entire database of the International Fetal Cardiac Intervention Registry (IFCIR) was queried for details of diagnoses, procedures, and outcomes. Maternal-fetal dyads from January 2001 through June 2014 were included.RESULTS:Eighteen institutions submitted data by data harvest. Of 370 cases entered, 245 underwent FCI: 100 aortic valvuloplasties from a previous single-center report (excluded from additional reporting here), an additional 86 aortic and 16 pulmonary valvuloplasties, 37 atrial septal cases, and 6 unclassified cases. FCI did not appear to affect overall survival to hospital discharge. Among live-born infants with a fetal diagnosis of aortic stenosis/evolving hypoplastic left heart syndrome, more than twice as many were discharged with biventricular circulation after successful FCI versus those meeting institutional criteria but without any or successful FCI (42.8% vs. 19.4%, respectively). When fetal deaths were counted as treatment failures, the percentages were similar: biventricular circulation at discharge was 31.3% versus 18.5% for those discharged with univentricular palliation. Survival to discharge for live-born fetuses with atrial restriction was similar to that of those undergoing technically successful versus unsuccessful FCI (63.6% vs. 46.7%, respectively), although criteria for diagnosis were nonuniform. CONCLUSIONS: We describe the contents of the IFCIR and present post-natal data to suggest potential benefit to fetal therapy among pregnancies considered for possible intervention and support proposals for additional work.

Determinación de valores de referencia en dimensiones cardíacasfetales en el tercer trimestre de gestación / Determination of reference values for fetal cardiac dimensions in the third trimester of pregnancy

INTRODUCCION: El pronóstico de las cardiopatías congénitas mejora con su detección prenatal. Las alteraciones enlas dimensiones cardíacas fetales son un hallazgo frecuente en presencia de anomalías cardíacas. OBJETIVO: Determinar valores de referencia para cavidades ventriculares y diámetro de grandes arterias en el tercer trimestre de la gestación, en vistas utilizadasen ecografía obstétrica. METODOS: Se realizó un estudio descriptivo de corte transversal. Se determinó la distribución de valores de referencia de dimensiones cardíacas fetales a partir de medicionesrealizadas en fetos de embarazadas de entre 25 y 41 semanas, controladas en dos hospitales privados de la Ciudad Autónoma de Buenos Aires y en un centro de diagnóstico privado de la provincia de Buenos Aires a lo largo de un año. RESULTADOS: Se obtuvierony analizaron los datos clínicos y las mediciones cardíacas fetales de 577 pacientes. Se determinaron valores de referencia en términos de media, desvío estándar y curvas de percentiles de anchos ventriculares, diámetros de grandes arterias y relaciones entre dichas estructuras (entre ventrículos y entre arterias). CONCLUSIONES: Sepresentan valores de referencia de dimensiones cardíacas fetalesobtenidos en cortes ecográficos de pesquisa en el tercer trimestrede la gestación.

INTRODUCTION: The prognosis of congenital heart diseases improves with prenatal detection. Alterations in fetal cardiac dimensions are a common finding in the presence of cardiac abnormalities. OBJECTIVE:To determine reference values for ventricular cavities and diameter of great arteries during the third trimesterof pregnancy, in views used in obstetric ultrasound. METHODS: A descriptive cross-sectional study was conducted,determining the distribution of reference values for fetal cardiac dimensions. It took into account sonographicmeasurements in fetuses between 25 and 41 weeks of pregnant women treated during one year in two privatehospitals from Buenos Aires city and one private diagnostic center in Buenos Aires province. RESULTS: Clinical dataand fetal cardiac measurements of 577 patients were collected and analyzed. Reference values were determined interms of mean, standard deviation and percentile curves of ventricular widths, diameters of great arteries, andrelationships between these structures (between ventricles and between arteries). CONCLUSIONS: Reference values for fetal heart measurements obtained in sonographic heart views used in obstetric scanning are presented for third trimester fetuses.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities / Mortalidad fetal y neonatal en pacientes con cardiopatías congénitas aisladas y asociadas a anomalías extracardíacas

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Las malformaciones congénitas son una causa reconocida de muerte intrauterina. De ellas, las cardiopatías congénitas (CC) ocasionan la mayor mortalidad fetal y neonatal. La asociación con otras malformaciones extracardíacas es elevada y se acompaña de una mortalidad fetal temprana. Se presentan 225 casos de CC. En 155 casos fueron CC aisladas (grupo A) y en 70 se asociaron con malformaciones extracardíacas, cromoso-mopatías o síndromes genéticos (grupo B). La mortalidad global en el grupo B fue mayor con respecto al grupo A (p < 0,01). La mortalidad prenatal fue similar en ambos grupos: A: 8,4% (13 de 155) y B: 15,7% (11 de 70). La mortalidad posnatal fue A: 16,8% (26 de 155) (p < 0,01), OR 0,52 (IC 95% 0,16 a 1,7) y B: 32,9% (23 de 70), (p <0,01), OR 0,41 (IC 95% 0,20 a 0,83). Las cardiopatías asociadas a anomalías extracardíacas presentaron mayor mortalidad que las cardiopatías congénitas aisladas en el período comprendido hasta las 60 semanas de edad posmenstrual (140 días postérmino). No hubo diferencia en la mortalidad prenatal entre ambos grupos de pacientes.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities / Mortalidad fetal y neonatal en pacientes con cardiopatías congénitas aisladas y asociadas a anomalías extracardíacas

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4% (13 out of 155); B: 15.7% (11 out of 70). Postnatal mortality was A: 16.8% (26 out of 155) (p <0.01), OR: 0.52 (95% CI: 0.16-1.7); B: 32.9% (23 out of 70) (p <0.01), OR: 0.41 (95% CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.(AU)

Las malformaciones congénitas son una causa reconocida de muerte intrauterina. De ellas, las cardiopatías congénitas (CC) ocasionan la mayor mortalidad fetal y neonatal. La asociación con otras malformaciones extracardíacas es elevada y se acompaña de una mortalidad fetal temprana. Se presentan 225 casos de CC. En 155 casos fueron CC aisladas (grupo A) y en 70 se asociaron con malformaciones extracardíacas, cromoso-mopatías o síndromes genéticos (grupo B). La mortalidad global en el grupo B fue mayor con respecto al grupo A (p < 0,01). La mortalidad prenatal fue similar en ambos grupos: A: 8,4% (13 de 155) y B: 15,7% (11 de 70). La mortalidad posnatal fue A: 16,8% (26 de 155) (p < 0,01), OR 0,52 (IC 95% 0,16 a 1,7) y B: 32,9% (23 de 70), (p <0,01), OR 0,41 (IC 95% 0,20 a 0,83). Las cardiopatías asociadas a anomalías extracardíacas presentaron mayor mortalidad que las cardiopatías congénitas aisladas en el período comprendido hasta las 60 semanas de edad posmenstrual (140 días postérmino). No hubo diferencia en la mortalidad prenatal entre ambos grupos de pacientes.(AU)

Foetal aortic valvuloplasty: experience of five cases.

OBJECTIVES: Foetal aortic valvuloplasty has been proposed as a strategy to improve left heart growth and function in foetuses with severe aortic stenosis at risk of progression to hypoplastic left heart syndrome. We report our experience with this intervention. METHODS AND RESULTS: Between 2005 and 2010, five foetuses with aortic stenosis and at risk of progression to hypoplastic left heart syndrome underwent ultrasound-guided percutaneous foetal aortic valvuloplasty. There were no associated maternal complications or foetal demise. In one case, the pregnancy was terminated a couple of weeks after the intervention, one foetus evolved to hypoplastic left heart syndrome, and three did not. CONCLUSIONS: Foetal aortic valvuloplasty seems to be a safe and feasible procedure. It has been reported that it has the potential to prevent progression to hypoplastic left heart syndrome in selected foetuses with severe aortic stenosis. Further investigation regarding physiological and clinical aspects of this disease both prenatally and postnatally will probably allow to improve therapeutic strategies and clinical outcome.

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities. / Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p <0.01). Prenatal mortality was similar in both groups: A: 8.4

(13 out of 155); B: 15.7

(11 out of 70). Postnatal mortality was A: 16.8

(26 out of 155) (p <0.01), OR: 0.52 (95

CI: 0.16-1.7); B: 32.9

(23 out of 70) (p <0.01), OR: 0.41 (95

CI: 0.20-0.83). Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

Diagnóstico prenatal de anillo vascular con arco aórtico derecho / Prenatal Diagnosis of Vascular Ring with Right Aortic Arch / Prenatal Diagnosis of Vascular Ring with Right Aortic Arch

El diagnóstico de anillo vascular con arco aórtico derecho en el feto favorece un tratamiento precoz después del nacimiento, que permite evitar la morbilidad tanto en la infancia como en edades mayores. En esta presentación se describen los hallazgos sonográficos en dos casos de arco aórtico derecho asociado con arteria subclavia izquierda aberrante y ductus arterioso izquierdo. Se realizó un estudio ecocardiográfico detallado del corazón fetal, con particular énfasis en la vista extendida de los tres vasos, en dos gestantes con 24 semanas de embarazo y edades de 18 y 24 años, atendidas en el Cardiocentro Pediátrico "William Soler"; se utilizó un equipo ATL (HDI 5000), de fabricación estadounidense, con transductor de 3 MHz. En ambos fetos se detectó la presencia de arco aórtico derecho, ductus arterioso izquierdo y arteria subclavia izquierda aberrante. Al utilizar el Doppler color se apreció una zona dilatada, conocida como divertículo de Kommerell. Uno de los fetos presentaba además tetralogía de Fallot asociada; en este caso, la gestante optó por la interrupción del embarazo. Ambos diagnósticos prenatales fueron confirmados, uno mediante ecocardiografía posnatal y el otro a través del estudio anatomopatológico. La presencia de un arco aórtico derecho, ductus arterioso izquierdo y arteria subclavia izquierda aberrante constituye una variante poco frecuente, con posibilidades de diagnóstico prenatal.

The diagnosis of vascular ring with right aortic arch allows early treatment after birth preventing morbidity in infants and older children. We describe the sonographic findings of two patients with right-sided aortic arch associated with aberrant left subclavian artery and left ductus arteriosus. Two women at 24 weeks pregnant aged 18 and 24 years old underwent a thorough echocardiographic evaluation of the fetal heart by targeted visualization of the three-vessel view at the Cardiocentro Pediátrico "William Soler", using an ATL HDI 5000 ultrasound machine made in USA with a 3 MHz transducer. The presence of a right-sided aortic arch, left ductus arteriosus and aberrant left subclavian artery was detected in both cases. Color Doppler ultrasound demonstrated the presence of Kommerell's diverticulum. One of the fetus also presented Tetralogy of Fallot and the woman opted for abortion. Both prenatal diagnoses were confirmed, one by postnatal echocardiography and the other by histopathological study. The presence of right-sided aortic arch, left ductus arteriosus and aberrant left subclavian artery is an uncommon anomaly that can be detected by prenatal ultrasound.

Diagnóstico prenatal de anillo vascular con arco aórtico derecho / Prenatal Diagnosis of Vascular Ring with Right Aortic Arch / Prenatal Diagnosis of Vascular Ring with Right Aortic Arch

El diagnóstico de anillo vascular con arco aórtico derecho en el feto favorece un tratamiento precoz después del nacimiento, que permite evitar la morbilidad tanto en la infancia como en edades mayores. En esta presentación se describen los hallazgos sonográficos en dos casos de arco aórtico derecho asociado con arteria subclavia izquierda aberrante y ductus arterioso izquierdo. Se realizó un estudio ecocardiográfico detallado del corazón fetal, con particular énfasis en la vista extendida de los tres vasos, en dos gestantes con 24 semanas de embarazo y edades de 18 y 24 años, atendidas en el Cardiocentro Pediátrico "William Soler"; se utilizó un equipo ATL (HDI 5000), de fabricación estadounidense, con transductor de 3 MHz. En ambos fetos se detectó la presencia de arco aórtico derecho, ductus arterioso izquierdo y arteria subclavia izquierda aberrante. Al utilizar el Doppler color se apreció una zona dilatada, conocida como divertículo de Kommerell. Uno de los fetos presentaba además tetralogía de Fallot asociada; en este caso, la gestante optó por la interrupción del embarazo. Ambos diagnósticos prenatales fueron confirmados, uno mediante ecocardiografía posnatal y el otro a través del estudio anatomopatológico. La presencia de un arco aórtico derecho, ductus arterioso izquierdo y arteria subclavia izquierda aberrante constituye una variante poco frecuente, con posibilidades de diagnóstico prenatal.(AU)

The diagnosis of vascular ring with right aortic arch allows early treatment after birth preventing morbidity in infants and older children. We describe the sonographic findings of two patients with right-sided aortic arch associated with aberrant left subclavian artery and left ductus arteriosus. Two women at 24 weeks pregnant aged 18 and 24 years old underwent a thorough echocardiographic evaluation of the fetal heart by targeted visualization of the three-vessel view at the Cardiocentro Pediátrico "William Soler", using an ATL HDI 5000 ultrasound machine made in USA with a 3 MHz transducer. The presence of a right-sided aortic arch, left ductus arteriosus and aberrant left subclavian artery was detected in both cases. Color Doppler ultrasound demonstrated the presence of Kommerells diverticulum. One of the fetus also presented Tetralogy of Fallot and the woman opted for abortion. Both prenatal diagnoses were confirmed, one by postnatal echocardiography and the other by histopathological study. The presence of right-sided aortic arch, left ductus arteriosus and aberrant left subclavian artery is an uncommon anomaly that can be detected by prenatal ultrasound.(AU)