Role of Computed Tomography Angiography in the Short-Term Follow-up of Aortic Coarctation Repair

ABSTRACT Introduction: Coarctation of the aorta (CoA) is a narrowing of the thoracic aorta that often manifests as discrete stenosis but may be tortuous or in long segment. The study aimed to evaluate pre and post-surgical aspects of pediatric patients submitted to CoA surgical correction and to identify possible predisposing factors for aortic recoarctation. Methods: Twenty-five patients were divided into groups according to presence (N=8) or absence (N=17) of recoarctation after surgical correction of CoA and evaluated according to clinical-demographic profile, vascular characteristics via computed angiotomography (CAT), and other pathological conditions. Results: Majority of males (64%), ≥ 15 days old (76%), ≥ 2.5 kg (80%). There was similarity between groups with and without recoarctation regarding sex (male: 87% vs. 53%; P=0.277), age (≥ 15 days: 62.5 vs. 82%; P=0.505), and weight (≥ 2.5 kg: 87.5 vs. 76.5; P=0,492). Altered values of aortic root/Valsalva diameter, proximal transverse arch, and distal isthmus, and normal values for aorta prevailed in preoperative CAT. Normal values for the aortic root/Valsalva sinus diameter were observed with and without recoarctation, the same for both groups regarding ascending and descending aorta in postoperative CAT. No significant difference for altered values of proximal transverse arch and alteration in distal isthmus was observed. Conclusion: No predictive risk for recoarctation was observed. CTA proved to be important in CoA diagnosis and management, since CoA is mainly related with altered diameter of aortic root/sinus of Valsalva and proximal and distal aortic arch/isthmus, however, it failed to show predictive risk for recoarctation.

Evaluación prenatal del síndrome de heterotaxia por ecografía fetal / Prenatal assessment of heterotaxy syndrome by fetal ultrasound

Resumen El síndrome de heterotaxia es una entidad de baja prevalencia, que tiene su origen durante el desarrollo embrionario, que afecta a diversos órganos y sistemas. Es por ello que su diagnóstico representa un reto durante la gestación. El pronóstico dependerá principalmente de las malformaciones cardiacas asociadas. Se presenta el caso de un paciente con diagnóstico de síndrome de heterotaxia durante el primer trimestre. Se detallan los patrones ecográficos obtenidos durante el tamizaje del primer trimestre que auxiliaron a integrar el diagnóstico de esta entidad, así como las anomalías cardiacas asociadas. El manejo debe contemplar a un equipo multidisciplinario, el cual brinde un manejo oportuno, que será principalmente quirúrgico, enfocado en las malformaciones cardiacas.

Abstract Heterotaxy syndrome is a low prevalence entity, which originates during embryonic development, affecting diverse organs and systems. That is why its diagnosis represents a challenge during pregnancy. The prognosis depends mainly on the associated cardiac malformations. The case of a patient with a diagnosis of heterotaxy syndrome during the first trimester is presented. The ultrasound patterns obtained during the first trimester screening that helped to integrate the diagnosis of this entity are detailed, as well as the associated cardiac anomalies. Management must contemplate a multidisciplinary team, which provides timely management, which will be mainly surgical, focused on cardiac malformations.

The cost of managing congenital rubella syndrome in a tertiary government hospital in Northern Luzon, Philippines

Background@#Infants with congenital rubella syndrome (CRS) often require multiple diagnostic procedures and interventions that include cataract surgery and procedures for congenital heart abnormalities. CRS is a vaccine preventable disease.@*Objective@#This study aimed to determine the costs incurred by the parents, Philippine Health Insurance Corporation (PHIC), hospital's medical social service (MSS), and non-governmental organization (NGO) in the management of CRS.@*Methods@#This is a costing study of five children diagnosed with probable CRS who were managed in a tertiary government hospital in Northern Luzon, Philippines. The parents or guardians of the patients were interviewed on the cost incurred particularly on non-medical related expenses during their outpatient department consultations and admissions. Hospital bills from our institutions and those from the previous institutions, if available, were retrieved. Expenses incurred from procedures or medical supplies relating to known complications of CRS were included in the computation.@*Results@#All five patients diagnosed with CRS had cardiac, ear, and eye manifestations. Two patients had postnatal complications. The average cost spent by the five patients' early years of life (mean age of patients was 16 ± 14 months) was ₱409,740.84. A quarter of the cost was out-of-pocket expenses while a third was covered by the hospital's MSS where the patients were seen. Another third was shouldered by an NGO. Most expenses were from the treatment of cardiac complications at 42% of the cost and had the highest average cost at ₱116,586.59. Case 1 had the highest financial cost at ₱833,514.24 mainly from the cardiac complications of CRS.@*Conclusion@#The cost of CRS in the early years of life is high. This is a significant financial burden to parents, PHIC, hospital's MSS, and NGO.

Características ecográficas y anomalías congénitas en fetos con síndrome de Down / Ultrasound features and congenital anomalies in fetuses with Down syndrome

Resumen Objetivo: Describir y analizar los hallazgos ecográficos en 97 fetos portadores de síndrome de Down (SD) confirmado. Método: Se incluyeron todas las gestantes con diagnóstico prenatal de SD de nuestro centro, realizado por cariograma o reacción en cadena de la polimerasa cuantitativa fluorescente para aneuploidía. Se analizaron los informes genéticos y ecográficos, y se realizó un seguimiento posnatal. Resultados: De los 97 casos de SD, el 73% de los diagnósticos fueron entre las 11 y 14 semanas. El promedio de edad de las madres fue de 35,7 años. El 83% de los fetos con SD, evaluados a las 11-14 semanas, tuvieron una translucencia nucal ≥ 3,5 mm. Del total de los casos analizados, el 33% fueron portadores de una cardiopatía congénita, correspondiendo el 58% de estas a defectos mayores, principalmente anomalías del tabique auriculoventricular. Un 7,6% de los casos terminaron como mortinato, principalmente durante el tercer trimestre. Conclusiones: El ultrasonido es una herramienta muy sensible para la sospecha prenatal de SD y la detección de sus anomalías asociadas. Consideramos que la información aportada será útil para programar estrategias de pesquisa, organizar el control perinatal y precisar el consejo a los padres de fetos portadores de esta condición.

Abstract Objective: To describe and analyze the ultrasound findings in 97 fetuses with confirmed Down syndrome (DS). Method: All pregnant women with prenatal diagnosis of DS in our center, performed by karyotype or quantitative fluorescent polymerase chain reaction for aneuploidy, were included. Genetic and ultrasound reports were analyzed, as well as postnatal follow-up. Results: Of the 97 cases of DS, 73% of the diagnoses were between 11-14 weeks. The average age of the mothers was 35.7 years. 83% of our fetuses with DS, evaluated between 11-14 weeks, had a nuchal translucency ≥ 3.5 mm. Of the total of the fetuses analyzed, 33% were carriers of congenital heart disease, 58% of these correspond to a major defect, mainly anomalies of the atrioventricular septum. 7.6% of cases ended as stillbirth, mainly during the third trimester. Conclusions: Ultrasound is a very sensitive tool for prenatal suspicion of DS and the detection of its associated abnormalities. We believe that the information provided will be useful to program screening strategies, organize perinatal control and to counselling parents of fetuses carrying this condition.

Association between Maternal Drug Use and Cytochrome P450 Genetic Polymorphisms and the Risk of Congenital Heart Defects in Offspring / 生物医学与环境科学（英文）

OBJECTIVE@#This study aimed to assess the associations between maternal drug use, cytochrome P450 ( CYP450) genetic polymorphisms, and their interactions with the risk of congenital heart defects (CHDs) in offspring.@*METHODS@#A case-control study involving 569 mothers of CHD cases and 652 controls was conducted from November 2017 to January 2020.@*RESULTS@#After adjusting for potential confounding factors, the results show that mothers who used ovulatory drugs (adjusted odds ratio [a OR] = 2.12; 95% confidence interval [ CI]: 1.08-4.16), antidepressants (a OR = 2.56; 95% CI: 1.36-4.82), antiabortifacients (a OR = 1.55; 95% CI: 1.00-2.40), or traditional Chinese drugs (a OR = 1.97; 95% CI: 1.26-3.09) during pregnancy were at a significantly higher risk of CHDs in offspring. Maternal CYP450 genetic polymorphisms at rs1065852 (A/T vs. A/A: OR = 1.53, 95% CI: 1.10-2.14; T/T vs. A/A: OR = 1.57, 95% CI: 1.07-2.31) and rs16947 (G/G vs. C/C: OR = 3.41, 95% CI: 1.82-6.39) were also significantly associated with the risk of CHDs in offspring. Additionally, significant interactions were observed between the CYP450genetic variants and drug use on the development of CHDs.@*CONCLUSIONS@#In those of Chinese descent, ovulatory drugs, antidepressants, antiabortifacients, and traditional Chinese medicines may be associated with the risk of CHDs in offspring. Maternal CYP450 genes may regulate the effects of maternal drug exposure on fetal heart development.

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) / Asociación entre cardiopatías congénitas y malformaciones congénitas urinarias: Un estudio de casos y controles de 52 años del Estudio Colaborativo Latino Americano de Malformaciones Congénit

Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86­7.00) for cloacal exstrophy, of 4.01 (range: 3.14­5.12) for imperforate anus, of 5.52 (range: 3.92­7.78) for horseshoe kidney, and of 13.7 (range: 6.65­28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and ho

Introducción Las malformaciones congénitas urológicas están presentes en 4,3/10 mil, y su asociación con otros defectos puede aumentar la mortalidad global y la discapacidad. Este estudio analiza la presentación de las malformaciones congénitas urológicas asociadas a las cardiopatías congénitas. Métodos Este es un estudio retrospectivo de casos y controles que usa el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se incluyeron todos los casos registrados de malformaciones congénitas urológicas de 1967 a 2019, y todos los casos con y sin defectos cardiacos. Se calculó la razón de disparidad (RD) usando un intervalo de confianza del 95% (IC 95%). Se probó la hipótesis con el Chi-cuadrado y análisis de la varianza (analysis of variance, ANOVA, en inglés). Se realizó el análisis estadístico por medio del programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, Estados Unidos), versión 27.0. Se consideró la significancia estadística con valores de p < 0,05. Resultados Se evaluaron 7.767.161 recién nacidos, y se identificaron 17.834 malformaciones genitales y del tracto urinario superior. De estas, 64,2% fueron genitales, y 35,8%, de vías urinarias superiores. El 3,5% de los casos tenían malformaciones genitourinarias y defectos cardiacos congénitos concomitantes (GU + C). Aquellos con GU + C tenían mayor número de malformaciones (4,59 ± 2,3) que los pacientes sin defectos cardiacos (1,53 ± 1,58) (p < 0,000). La RD fue de 3.61 (rango: 1,86­700) para la extrofia cloacal, de 4,01 (3,14­5,12) para el ano imperforado, de 5,52 (3,92­7,78) para el riñón en herradura, y de 13,7 (6,65­28,22) para la trisomía 21 (síndrome de Down) con malformaciones del tracto urinario superior. Conclusión La asociación entre defectos cardiacos congénitos y anomalías urológicas es significativa en malformaciones congénitas complejas como el ano imperforado, la extrofia cloacal, y el riñón en herradura. Los pacientes con síndrome de Down y malformaciones urológicas tienen la mayor probabilidad.

Congenital Heart Disesase: A Retrospective Analysis from a Tertiary Referral Centre in Portugal

Abstract Background: Congenital heart disease is the leading cause of mortality among all congenital malformations. Objectives: To evaluate the incidence of congenital heart diseases in a central maternity hospital in Portugal from January 2003 to December 2018 and to determine survival in the first year of life. Methods: Retrospective analysis of newborns diagnosed with congenital heart diseases within 72 hours after birth. Malformations were divided according to pathophysiology. Cumulative survival analysis was performed by the Kaplan-Meier test. Stastical significance was set at p <0.05. Results: A total of 297 newborns with cardiac malformation was recorded among 47,198 live births (incidence of 6:1000), 16% associated with extra-cardiac disease. The most frequent congenital heart diseases were left-to-right shunt lesions (n = 216), followed by cyanotic (n = 41), acyanotic obstructive (n = 31) and miscellaneous (n = 9). Seventy (24%) patients had prenatal diagnosis, 88% of them cyanotic defects, and a positive association was found between prenatal diagnosis and mortality (p <0.001). Coarctation of the aorta was associated with gestational diabetes (p = 0.014). Atrial septal defect was more common in females (p = 0.02). Mortality rate due to heart disease was 3.4%. Patients with cyanotic disease, 99%, 97%, 97%, respectively, for patients with left-to-right shunt lesions, and 97%, 97%,97% for those with obstructive lesion cases. Conclusion: The incidence of congenital heart disease was 6:1000, mostly left-to-right shunt lesions. Heart disease accounted for only half of deaths, and cyanotic diseases have a high nonspecific mortality rate.

Prevalence and clinical significance of fetal tricuspid regurgitation during the third trimester of pregnancy / Prevalência e significado clínico da regurgitação tricúspide em fetos no terceiro trimestre da gestação

Abstract Objectives: the aim of this study was to determine the prevalence of fetal tricuspid valve regurgitation (TR) during the third trimester of low-risk pregnancies and to assess its clinical significance on neonates. Methods: this is a cross-sectional study including 330 singleton fetuses referred for routine fetal echocardiography during 3rd trimester in a fetal medicine center in Recife, Brazil. The presence and degree of tricuspid regurgitation were analyzed. Whenever TR was identified on fetal echocardiography, postnatal data, including the results of postnatal echocardiography were reviewed. Results: the prevalence of tricuspid regurgitation was 10.0% (n=33) in the study population. Regarding regurgitation degree, 90.9% (n=30) presented mild regurgitation and none presented important TR. Postnatal data was obtained from 21 neonates. Twenty of them were discharged without any complications, and one presented respiratory distress due to prematurity. Transthoracic echocardiography was performed in 66.7% (n=14) of the neonates and it was normal in 92.9% (n=13) of them. One neonate, 7.1%, persisted with tricuspid regurgitation, but had no other findings. Conclusions: tricuspid regurgitation in fetuses with normal cardiac anatomy during the 3rd trimester is a common condition in low-risk pregnancies, and is not associated with cardiac abnormalities or need for neonatal intervention.

Resumo Objetivos: determinar a prevalência da regurgitação tricúspide (RT) em fetos no terceiro trimestre de gestações de baixo risco e investigar sua repercussão clínica nos recémnascidos. Métodos: trata-se de um estudo transversal incluindo 330 fetos encaminhados para realização de ecocardiograma fetal de rotina no terceiro trimestre da gestação num centro de medicina fetal em Recife, Brasil. A presença e o grau de insuficiência tricúspide foram estudados. Quando RT estava presente ao ecocardiograma fetal dados pós-natais, incluindo ecocardiograma, também foram analisados. Resultados: a prevalência de RT foi de 10,0% na população estudada, sendo que 90,9% (n=30) dos casos foram classificados como RT leve, e nenhum caso de RT importante foi identificado. Foram obtidos dados pós-natais de 21 recém-nascidos. Destes, 20 receberam alta hospitalar sem nenhuma complicação, enquanto 1 apresentou desconforto respiratório associado à prematuridade. Ecocardiograma transtorácico foi realizado em 66.7% (n=14) dos recém-nascidos avaliados, e foi normal em 92.9% (n=13) deles. Apenas 1 recém-nascido, 7.1%, persistiu com RT mas sem outros achados significativos. Conclusões: a RT em fetos com anatomia cardíaca normal é comum no terceiro trimestre de gestações de baixo risco e não parece associar-se a anomalias cardíacas ou necessidade de intervenção no período neonatal.

A New Look at Neurodevelopmental and Neuropsychological Outcome in Children with Congenital Heart Disease

New surgical techniques and advances in intensive care and medical treatment have significantly decreased mortality rates for children and adolescents with complex congenital heart disease (CHD). Survivors are at risk for neurodevelopmental and neuropsychological morbidity caused by both genetic and environmental risk factors, which causes a distinctive pattern of developmental and neuropsychology impairment characterized by mild cognitive impairment, executive functions impaired social interaction, and impairments in core communication skills, including pragmatic language, as well as attention, impulsive behavior, and impaired executive functions among children affected with congenital heart disease. In view of this, the present study reviews the neurodevelopmental and neuropsychological impairment with an objective of insisting the importance in developing and implementing a neuropsychological intervention program for children with congenital heart defect to retrain neuropsychological and neuro-developmental functions. With increased survival rates, the focus of clinical research in the pediatric cardiac population has paralleled the population shift and transitioned from short term surgical survival to the assessment of long- term morbidity

Prevalencia de cardiopatías congénitas en una cohorte de 54. 193 nacimientos entre 2011-2017 / Prevalence of congenital heart disease in a cohort of 54, 193 births between 2011-2017

Resumen Objetivo: Describir la prevalencia de las cardiopatías congénitas en dos hospitales de Cali entre 2011-2017. Método: Se realizó un estudio retrospectivo de una cohorte de 54.193 nacimientos en dos hospitales de Cali, que incluyó recién nacidos desde el 1.º de enero 2011 hasta el 31 de diciembre de 2017 captados en el programa de vigilancia y seguimiento de defectos congénitos. Inicialmente se hizo un análisis descriptivo de los pacientes con cardiopatías y luego se analizó la relación de algunas variables con un chi-cuadrado (C2) con una significancia de p-valor < 0,05. Resultados: La prevalencia en esta cohorte fue de 2,42 por 1.000 nacimientos. De los 131 pacientes con cardiopatías congénitas, 73 (55,73%) eran de sexo masculino; 91 (69,47%) nacieron con peso adecuado para la edad gestacional y 31 (23,66%) fueron pretérmino. De las madres, 30,53% se encontraban entre 25 y 29 años y 42% eran primigrávidas. Respecto a las cardiopatías congénitas, la más frecuente fue la comunicación interventricular con 52 (32,30%) casos; 105 (80,15%) tenían una sola cardiopatía congénita y 62 (47,33%) tenían cardiopatías aisladas. Las variables de peso para edad gestacional, edad materna y edad gestacional mostraron una relación estadísticamente significativa. Conclusiones: Las cardiopatías congénitas son de gran interés en salud pública dada su morbi-mortalidad y por ser causa de muerte en menores de un año en Colombia. Por lo tanto, se debe continuar trabajando en estrategias que mejoren su vigilancia, así como el diagnóstico prenatal, el tratamiento y el nivel de complejidad adecuado para cada paciente.

Abstract Objective: To describe the prevalence of congenital heart disease in two hospitals of Cali in between 2011 and 2017. Method: A retrospective study of a cohort of 54,193 births was carried out in two hospitals of Cali, which included newborns from January 1, 2011 to December 31, 2017, captured through the surveillance program and monitoring of birth defects. Initially, a descriptive analysis of patients with congenital heart disease was performed, and the association of some variables with a chi-square (C2) with a p-value significance <0.05. Results: The prevalence in this cohort was 2.42 x 1,000 births. Of the 131 patients with congenital heart disease, 73 (55.73%) were male; 91 (69.47%) were born with adequate weight for gestational age and 31 (23.66%) were preterm. Of the mothers, 30.53% were between 25 and 29 years old and 42% were primigravid. Regarding CC, the most frequent was interventricular communication with 52 (32.30%) cases; 105 (80.15%) had only one congenital heart disease and 62 (47.33%) had isolated heart disease. The variables of weight for gestational age, maternal age and gestational age, showed a statistically significant association. Conclusions: Congenital cardiopathy is of great interest in public health, given their morbi-mortality and as a cause of death in children under 1 year old in Colombia. Therefore, we must continue to work on strategies that improve surveillance, as well as prenatal diagnosis, treatment and the level of complexity appropriate to each patient.

Surgical strategies of biventricular conversion from single-ventricle palliation for the complex congenital heart defects / 中华胸心血管外科杂志

Objective:To explore and summarize the surgical strategies of biventricular conversion from single-ventricle palliation for the complex congenital heart defects in this study.Methods:From April 2017 to December 2019, a total of 14 cases with complex complex congenital heart defects who had planned to undergo single-ventricle palliation were finally accepted biventricular conversion. According to the development and anatomical characteristics of the ventricles, they were divided into two groups: ventricular well development group(9 cases), all of which showed complex intracardiac defects, and the ventricles well developed, including 4 cases of double outlet right ventricle with remote ventricular septal defect, 2 cases of transposition of great arteries combined with ventricular septal defect and left ventricular outflow tract obstruction, one case of congenitally corrected transposition of the great arteries combined with double outlet right ventricle and interrupted aortic arch, one case of double outlet right ventricle with subpulmonary ventricular septal defect and atrioventricular connection inconsistency, one case of pulmonary atresia with ventricular septal defect. Ventricular unbalanced development group(5 cases), all of which were functional single ventricle, including 3 cases of heterotaxy and 2 cases of unbalanced complete atrioventricular septal defect. The operation time, postoperative complications, death, cardiac function and reoperation of the two groups were compared.Results:There was one early death, with a mortality rate of 7.1%. In the ventricular well development group, the average waiting time for biventricular conversion was(56.4 ± 38.9) months. One case died after the operation. The early complications included 2 case of arrhythmias, 3 cases of pleural effusions and 2 cases of pulmonary infections. In the ventricular unbalanced development group, the average waiting time for biventricular conversion was(20.4 ± 15.8) months, and the average of left ventricular end-diastolic volume was(33.6 ± 2.1) ml/m 2. The early complications included 2 cases of low cardiac outputs, one case of arrhythmia and one case of renal failure. There was no significant difference in operation time, intubation time and ICU time between the two groups. The patients were followed up for 4 months to 3 years, and there was no death. In the ventricular well development group, one case was reoperated due to the obstruction of the anastomosis between the superior vena cava and the right atrial appendage. In the ventricular unbalanced development group, one case was implanted with a permanent pacemaker due to the degree Ⅲ atrioventricular block. The NYHA grade of the whole group was Ⅰ-Ⅱ. Conclusion:Whether the complex congenital heart defects with the ventricles well developed or unbalanced, the comprehensive evaluation before the planned single-ventricle palliation will be helpful to find the appropriate cases for biventricular conversion. According to its anatomical characteristics performed the corresponding biventricular conversion can obtain a satisfied clinical outcomes, although the long-term results still need further follow-up.

Orofacial clefts associated with cardiac anomalies: 27 years of experience of a multidisciplinary group in a tertiary hospital in Portugal / Fendas orofaciais associadas a anomalias cardíacas: 27 anos de experiência de um grupo multidisciplinar em um hospital terciário em Portugal

AIMS: Orofacial clefts (OFC) are a heterogeneous group of birth defects arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart defects. We aim to describe a population with orofacial clefts and associated cardiac anomalies. METHODS: Retrospective study of patients attended in the Cleft Lip and Palate Multidisciplinary Group outpatient clinic at Hospital Universitario São João, Porto-Portugal. Medical records from January 1992 through December 2018 were reviewed. Patients were divided into four groups according to the Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included gender, affected relatives, associated congenital anomalies and syndromes. RESULTS: From the 588 patients included, 77 (13%) presented cardiac anomalies. Of those with orofacial cleft and cardiac anomalies, 53% were males and 17% had known affected relatives. CP was the most common cleft among patients with cardiac anomaly (~56%). Additional congenital anomalies were found in 89.7% of patients, namely facial defects, central nervous system, renal and skeletal malformations. A recognizable syndrome was identified in 61.5%, being Pierre-Robin the most common (n=22), followed by 22q11.2 microdeletion (n=9). Bothadditional congenital anomalies and recognizable syndromes were significantlymore prevalent in patients with heart disease (p<0.05). The main groups of cardiac anomalies were left-to-right shunt (n=47) and right ventricular outflow tractobstruction (n=14). From these, 26 had a ventricular septal defect, 15 atrial septal defect and seven patients had tetralogy of Fallot. Five patients had dysrhythmias. CONCLUSIONS: Due to the high prevalence of cardiac anomalies in the cleft population, a routine cardiac evaluation should be performed in all these patients.

INTRODUÇÃO: As fendas lábio-palatinas são um grupo heterogêneo de defeitos congênitos que ocorrem em cerca de 1,7 / 1000 recém-nascidos. Eles podem ocorrer com outras anomalias congênitas, incluindo defeitos cardíacos. O nosso objetivo é descrever uma população com fendas lábio-palatinas e anomalias cardíacas associadas. MÉTODOS: Estudo retrospectivo de doentes seguidos pelo Grupo Multidisciplinar de Fendas Lábio-Palatinas no Hospital Universitário São João, Porto-Portugal. Foram analisados os prontuários médicos de janeiro de 1992 a dezembro de 2018. Os doentes foram divididos em quatro grupos, de acordo com a classificação de Spina: fenda labial (CL), fenda labial e palatina (CLP), fenda palatina isolada (PC) e fenda atípica (CA). Outras categorizações incluíram sexo, parentes afetados, anomalias e síndromes congênitas associadas. RESULTADOS: Dos 588 pacientes incluídos, 77 (13%) apresentaram anomalias cardíacas. Daqueles com fenda e anomalias cardíacas, 53% eram do sexo masculino e 17% tinham parentes afetados. A PC foi a fenda mais comum entre os doentes com anomalia cardíaca (aproximadamente 56%). Anomalias congénitas adicionais, como defeitos faciais, malformações do sistema nervoso central, renais e esqueléticas foram encontradas em 89,7%. Síndromes foram identificadas em 61,5%, sendo Pierre-Robin a mais comum (n = 22), seguida pela microdeleção 22q11.2 (n = 9). Anomalias congénitas adicionais e a presença de uma síndrome genética foram significativamente mais prevalentes em doentes com doença cardíaca associada (p <0,05). Os principais grupos de anomalias cardíacas foram shunt da esquerda para a direita (n = 47) e obstrução da via de saída do ventrículo direito (n = 14). Destes, 26 apresentaram comunicação interventricular, 15 comunicação interauricular e sete pacientes apresentaram tetralogia de Fallot. Cinco pacientes apresentaram disritmias. CONCLUSÕES: Devido à elevada prevalência de anomalias cardíacas na população de doentes com Fenda Lábio-Palatina, aconselhamos uma avaliação cardíaca de rotina em todos.

Avaliação da deglutição e indicadores clínicos associados em crianças após correção cirúrgica de doença cardíaca congênita / Evaluation of swallowing and associated clinical markers in infants after surgical repair of congenital heart disease

RESUMO Objetivo Identificar os marcadores clínicos associados às alterações da deglutição em crianças após a correção da doença cardíaca congênita e correlacionar esses marcadores às categorias da escala Risk Adjustment for Congenital Heart Surgery 1 (RACHS-1). Métodos Foi realizado um estudo retrospectivo observacional, utilizando a base de dados eletrônica do centro de pediatria para crianças admitidas em um hospital, em decorrência de doença cardíaca congênita. Foram coletados dados da avaliação de deglutição e a presença de disfagia foi classificada de acordo com a Dysphagia Management Staging Scale (DMMS). Foram incluídos os dados demográficos, os marcadores clínicos e o risco de mortalidade, de acordo com a RACHS-1. Resultados A amostra final do estudo foi composta por 108 pacientes. Os achados mais relevantes foram: os sinais mais graves de disfagia estiveram associados ao aumento da permanência no hospital (p=0,005); ao maior número e tempo de intubações orotraqueais (p=0,022 e 0,005, respectivamente); ao maior tempo entre a admissão hospitalar e a avaliação da deglutição (p=0,003); ao maior tempo entre o procedimento cirúrgico e a avaliação da deglutição (p=0,043) e ao maior número de sessões fonoaudiológicas para remoção da via alternativa de alimentação e retorno seguro para via oral (p<0,001). Não foram encontradas correlações entre o risco de mortalidade das crianças e os sinais alterados na avaliação da deglutição. Conclusão Os resultados do estudo contribuem para o conhecimento atual de que crianças com doenças cardíacas que precisam de correção cirúrgica apresentam dificuldades alimentares e necessitam atendimento hospitalar prolongado. Não houve correlação entre as categorias da escala RACHS-1 e os sinais de alteração na avaliação clínica da deglutição.

ABSTRACT Purpose To identify clinical markers that are associated to swallowing alterations in infants after surgical repair of congenital heart disease (CHD) and to correlate these markers to the categories on the Risk Adjustment for Congenital Heart Disease 1 (RACHS-1) scale. Methods Using the Pediatric Center Database System we conducted a retrospective, observational cohort study on children admitted to the pediatric hospital unit due to CDH. We collected data on specific parameters of a clinical swallowing assessment (SA) and dysphagia was classified according to the Dysphagia Management Staging Scale. We also included demographic and clinical markers and patient´s risk of mortality was determined by using the RACHS-1. Results The final study sample consisted of 108 patients. Important findings were: the more severe signs of dysphagia are associated to an increased length of hospital stay (p=0.005); an increased number and duration of orotracheal intubation (p=0.022 and 0.005 respectively); an increased time between hospital admission and SA (p=0.003); an increased time between the surgical procedure and swallowing assessment (0.043); and an increased number of SLP sessions to remove alternate feeding methods and warrant safe oral feeding (p<0.001). No correlations were observed between the infant's risk of mortality and the altered sings on the clinical swallowing assessment. Conclusion The data from this study contributes to the current knowledge that children with heart condition requiring heart surgery in the first month of life have high risk of presenting feeding difficulties and will require prolonged hospital care. No correlation was observed between the categories on RACHS-1 and the altered signs on the clinical swallowing assessment.

Defecto ventricular septal aislado. Reporte de un caso / Isolated ventricular septal defect. A case report / Isolated ventricular septal defect. A case report

RESUMEN Las cardiopatías congénitas son las anomalías congénitas más frecuentes. El defecto ventricular septal (DVS) es la cardiopatía congénita más común en los recién nacidos que afecta entre 25 y 30% de los neonatos con defecto cardiaco; los de tipo medio muscular son más comunes que los perimembranosos. La incidencia de anomalías cromosómicas con DVS aislado es relativamente baja. El cierre espontáneo del DVS aislado ocurre en aquellos que son pequeños, y el DVS muscular medio es el que más comúnmente se cierra comparado con el membranoso o perimembranoso. El diagnóstico de DVS muscular aislado sin otra anomalía puede ser considerado un hallazgo benigno.

ABSTRACT Congenital heart disease is the most common congenital anomaly. Ventricular septal defect (VSD) is a frequent congenital heart disease in newborns, affecting 25 to 30% neonates with cardiac defects. Muscular VSDs are more frequent than perimembranous VSDs. The association of cases with chromosomal anomalies and isolated VSD is relatively low. Spontaneous closure of isolated VSD is higher with small VSD cases, and the muscular VSD is more likely to close spontaneously than the membranous or perimembranous types. Therefore, diagnosis of isolated muscular VSD with no other anomalies can be considered a benign finding.

Current situation of congenital heart diseases in two public hospitals in the state of Jalisco / Situación real de las cardiopatías congénitas en dos hospitales públicos del estado de Jalisco

Abstract Introduction: Congenital heart disease represents a public health issue worldwide. Objective: To know the number of patients with heart disease treated in two public hospitals of the State of Jalisco, as well as the mortality and resources available to participating hospitals for the care of these patients in the period from 2015 to 2018; the information was requested to the National Transparency Platform, and the database of pediatric cardiology services and pediatric cardiovascular surgery of the participating hospitals were also reviewed. Results: The second level hospital has human resources, but not the material to attend to these patients; so it is not possible to offer any type of palliative or corrective treatment. A total of 624 patients were evaluated, of which 92.2% corresponded to non-critical heart disease; overall mortality was 12% but in critical heart disease it was 79.5%. The third level hospital has human and material resources to care for these patients. During the study period, 289 operations were performed and the overall mortality was 20.4%. Conclusion: Congenital heart disease in the State of Jalisco is an important cause of mortality, with a high incidence and a very limited resolution capacity since the health services in the State of Jalisco for the care of these patients are insufficient and inadequate. It is essential to strengthen the health system for the care for these patients.

Resumen Introducción: Las cardiopatías congénitas representan un problema de salud pública a nivel mundial. Objetivo: Conocer la cantidad de pacientes cardiópatas atendidos en dos hospitales públicos del estado de Jalisco, así como la mortalidad y los recursos con que cuentan los hospitales participantes para la atención de estos pacientes en el período del 2015 al 2018. Se solicitó la información a la Plataforma Nacional de Transparencia y además se revisaron las bases de datos de los servicios de cardiología pediátrica y cirugía cardiovascular pediátrica de los hospitales participantes. Resultados: El hospital de segundo nivel cuenta con los recursos humanos, pero no con el material para atender a estos pacientes, por lo que no es posible ofrecer ningún tipo de tratamiento paliativo o correctivo (sólo se cierran algunos conductos arteriosos en la etapa neonatal). Se valoró a un total de 624 pacientes, de los cuales el 92.2% correspondió a cardiopatías no críticas; la mortalidad global fue del 12% pero en las cardiopatías críticas fue del 79.5%. El hospital de tercer nivel cuenta con recursos humanos y material para atender a estos pacientes; en el período de estudio se realizaron 289 operaciones y la mortalidad global fue del 20.4%. Conclusión: Las cardiopatías congénitas en el estado de Jalisco son una causa importante de mortalidad, con una incidencia elevada y una capacidad de resolución sumamente limitada, ya que los servicios de salud de Jalisco para la atención de estos pacientes son insuficientes e inadecuados. Es esencial fortalecer el sistema de salud para atender a estos pacientes.

Association between metal cobalt exposure and the risk of congenital heart defect occurrence in offspring: a multi-hospital case-control study

BACKGROUND@#Many studies have investigated heavy metal exposure could increase the occurrence of congenital heart defects (CHDs). However, there are limited data regarding the relationship between cobalt exposure and CHD occurrence in offspring. The aim of this study was to analyze the association between cobalt exposure in mothers and the risk of CHDs in offspring.@*MATERIALS AND METHODS@#In order to explore the association between cobalt exposure and occurrence of congenital heart defect (CHD), a case-control study with 490 controls and 399 cases with CHDs in China were developed. The concentrations of cobalt in hair of pregnant woman and fetal placental tissue were measured and processed by a logistic regression analysis to explore the relationship between cobalt exposure and risk of CHDs.@*RESULTS@#The median concentration of hair cobalt in the control and case group was 0.023 ng/mg and 0.033 ng/mg (aOR, 1.837; 95% CI, 1.468-2.299; P < 0.001), respectively. And the median (5-95% range) fetal placental cobalt concentrations were 19.350 ng/g and 42.500 ng/g (aOR, 2.924; 95% CI, 2.211-3.868; P < 0.001) in the control and case groups, respectively. Significant differences in the middle level of cobalt in hair were found in the different CHD subtypes, including septal defects, conotruncal defects, right ventricular outflow tract obstruction, and left ventricular outflow tract obstruction (P < 0.001). Dramatically, different cobalt concentrations in fetal placental tissue were found in all subtypes of cases with CHDs (P < 0.01).@*CONCLUSIONS@#The finding suggested that the occurrence of CHDs may be associated with cobalt exposure.

Del soplo inocente a la hipertensión arterial pulmonar / From an innocent heart murmur to pulmonary arterial hypertension

Resumen Introducción: La detección de cardiopatías congénitas en la etapa neonatal a partir de un soplo cardiaco o cianosis no es efectiva. Las cardiopatías congénitas críticas, como el tronco arterioso común (TAC), causan la mayoría de las muertes neonatales por malformaciones congénitas. El tamizaje por oximetría de pulso en los recién nacidos detecta hasta el 70% de estas cardiopatías. El TAC presenta una alta mortalidad en el primer año de vida. Caso clínico: Se presenta el caso de un paciente de sexo femenino de 4 años de edad con soplo cardiaco, palpitaciones, disnea y cianosis perioral, con diagnóstico al nacimiento de soplo inocente. Se detectó TAC mediante una ecocardiografía. Las resistencias vasculares pulmonares fueron evaluadas por medio de cateterismo cardiaco derecho, con hallazgo de hipertensión arterial pulmonar y vasorreactividad pulmonar. Se realizó corrección quirúrgica. A la fecha, la hipertensión arterial pulmonar continúa presente, por lo que se implementó Bosentan® (Actelion, USA) como tratamiento a largo plazo. Conclusiones: En recién nacidos, el tamizaje por oximetría de pulso después de las 24 horas de vida es un método efectivo para el diagnóstico oportuno de cardiopatías congénitas críticas antes de los signos de colapso cardiovascular. Por ello, resulta una herramienta diagnóstica fundamental para reducir la morbimortalidad. Aunque la corrección quirúrgica de cardiopatías congénitas con hipertensión arterial pulmonar es factible en algunos pacientes, su manejo subsecuente es complejo e impacta de manera adversa en la calidad de vida.

Abstract Background: The detection of congenital heart disease in newborns, based on a heart murmur or cyanosis is not effective. Critical congenital heart diseases, such as truncus arteriosus (TA), cause most of neonatal deaths due to congenital malformations. The screening for pulse oximetry in newborns detects up to 70% of these heart diseases. TA presents high mortality in the first year of life. Case report: A 4-year-old female patient with a heart murmur, palpitations, dyspnea, and perioral cyanosis was diagnosed with an innocent heart murmur at birth. TA was detected by echocardiography. Pulmonary vascular resistances were evaluated through right cardiac catheterization, and pulmonary arterial hypertension and pulmonary vasoreactivity were diagnosed as well. Surgical correction was performed. Currently, pulmonary arterial hypertension persists, for which Bosentan® (Actelion, USA) has been implemented as a long-term treatment. Conclusions: In newborns, the pulse oximetry screening after 24 hours of life is an effective method for suitable diagnosis of critical congenital heart disease before the signs of cardiovascular collapse. Therefore, it has become an essential diagnostic tool to reduce morbidity and mortality. Although the surgical correction of congenital heart disease with pulmonary arterial hypertension is feasible in some patients, its subsequent management is complex and has an adverse impact on the quality of life.

Shunt occlusion in children with congenital heart disease undergoing systemic-pulmonary shunt: an analysis of risk factors and early and mid-term results / 中华胸心血管外科杂志

Objective To determine the early and mid-term outcomes of shunt occlusion in infant and children after systemic-pulmonary shunt surgery and explore the risk factors of shunt occlusion in these patients.Methods Retrospective analysis was conducted for 295 patients with congenital heart disease after systemic pulmonary shunt surgery at Fuwai Hospital from January 2010 to August 2016.There were 183 males and 112 females with their median age 7.5 months,and mean body weight (9.2 ±4.9) kg.The major cardiac diagnosis included pulmonary atresia and ventricular septal defect(110 cases),transposition of the great arteries (67 cases),tetralogy of Fallot (38 cases) and others.The surgical procedures included central aorto-pulmonary shunt in 97 patients and modified Blalock-Taussig shunt in 198 patients.The outcomes were compared between patients with and without shunt occlusion group and risk factors were identified using univariate and multivariate logistic analysis.Results Death occurred in 25 patients in which 16％ were associated with shunt occlusion.Follow-up was complete in 92.2％ averaging 35 months(range 2 to 84 months).Multivariate logistic regression analysis identified that the central aorto-pulmonary shunt type(P =0.008),shunt size less than 4 mm(P =0.001),platelet transfusion(P =0.001) and poor compliance for aspirin antiplatelet therapy(P =0.04) were all the independent risk factors despite adjusting for other variables.While the increased postoperative oxygen saturation may be the protective factor(OR =0.93,P =0.001).Conclusion The central aortopulmonary shunt type,smaller shunt size,platelet transfusion,decreased postoperative oxygen saturation and poor compliance for ASA antiplatelet therapy were important factors of shunt occlusion in patients undergoing shunt surgery.The proper identification and management would improve the prognosis of these patients.

External Validation of 3 Risk Scores in Adults with Congenital Heart Disease

BACKGROUND AND OBJECTIVES: Adults with congenital heart disease (CHD) are an increasing group of patients thanks to the survival of over 85% of children with CHD. 20% of these patients shall warrant a surgical procedure during their life span. However, currently there is no one risk score that assess correctly the mortality of these procedures. Thus, we analyse the risk scores used at our institution. METHODS: From May 1991 till June 2017, 608 procedures in adults with CHD were performed. The 3 risk scores (risk adjustment for congenital heart surgery [RACHS-1], Aristotle, and Euroscore I) of each procedure were analysed. We used area under the receiver operating characteristic curve (c-index) to measure model discrimination, and Hosmer-Lemeshow (H-L) statistic along with calibration plots to measure calibration. RESULTS: There was no statistical difference between the area under the curve for the 3 scores (χ²=0.58 with 2 df, p=0.750). There was no evidence of lack of fit for RACHS-1 (H-L, χ²=2.61; p=0.271) and Aristotle score (H-L, χ²=5.69; p=0.459). However, there was evidence in lack of calibration in the Euroscore I scoring system (H-L, χ²=33.69; p<0.001). The calibration slope for RACHS-1 was 0.912, for Aristotle (stratified in risk groups) was −0.14 and for Euroscore 1 (stratified in risk groups) was 0.46. CONCLUSIONS: RACHS-1 seems to be best risk scoring system for calculating mortality applied to surgery in adults with CHD.

Hybrid balloon dilation treatment for cor triatriatum dexter in a small breed puppy

The authors encountered a 4-month-old, female Shiba dog weighing 4.0 kg, who had been exhibiting abdominal distension and increasing ascites for 2 months. She was brought for further examination and treatment with the chief complaints of ascites and dyspnoea during sleep. The dog was diagnosed with ascites caused by cor triatriatum dexter based on the physical and imaging findings. Under general anaesthesia, she was treated with hybrid balloon dilation under transoesophageal echocardiography guidance. Her postoperative recovery was quite rapid and uneventful. This method appears to be a useful, new, and less-invasive treatment option for cor triatriatum dexter.