Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A, and the ajmaline test unmasked a type-1 Brugada pattern. We suggest that deleterious variants in the SCN5A gene could be implicated in pulmonary atresia with an intact ventricular septum embryogenesis, leading to overlapping phenotypes.

Early assessment of cardiomyopathy in Duchenne patients by means of longitudinal strain echocardiography.

INTRODUCTION: The diagnosis of Duchenne-linked cardiomyopathy may be challenging. Conventional echocardiographic measurements typically show deterioration beyond the second decade. Global longitudinal strain has been proposed as an earlier marker than left ventricular ejection fraction. MATERIAL AND METHODS: A prospective, observational, cross-sectional, case-control study was carried out. Both Duchenne patients and control subjects underwent transthoracic echocardiogram in order to assess left ventricle function. Bayesian linear regression was the main tool for inference. Age effects were parameterised by means of a spline function because of its simplicity to characterise continuous variables and smooth contributions. The posterior distribution of the marginal age effects was used to assess the earliest age of deterioration of each marker. RESULTS: Sixteen Duchenne patients and twenty-two healthy male subjects were enrolled. On overage, cardiac function measures were found for ejection fraction and longitudinal strain among different groups. Age effects on global longitudinal strain are more reliably found at ages of 6 and above, while ejection fraction starts to deteriorate at an older age. Progressive left ventricular dysfunction in Duchenne patients is one of the key issues and starts at an early age with subtle symptoms. CONCLUSION: This cross-sectional study provides supporting evidence that global longitudinal strain is an earlier marker of disease progression than ejection fraction in Duchenne patients.

Takayasu's arteritis as an incidental finding in a patient with celiac disease: the importance of positron emission computed tomography.

BACKGROUND: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. CASE REPORT: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. CONCLUSIONS: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.

INTRODUCCIÓN: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. CASO CLÍNICO: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. CONCLUSIONES: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.

Right ventricle speckle tracking in bronchopulmonary dysplasia: one-year follow-up.

BACKGROUND: Bronchopulmonary dysplasia (BPD) is still a major concern in preterm infants and adequate screening methods for secondary right ventricle (RV) failure are needed. Early detection could be aided by taking measurements of RV deformation using speckle tracking echocardiography. A prospective longitudinal study was carried out over 28 months at a tertiary care pediatric cardiology center. Preterm infants < 32 weeks gestational age (GA) were eligible for the study. Enrolled patients were separated in two groups: NO-BPD or BPD. At three timepoints over the first year of life, echocardiogram measurements were performed. Right ventricle strain was studied using speckle tracking analysis and compared to conventional function parameters. RESULTS: Fifty patients were enrolled in the study, 22 in the NO-BPD group and 28 in the BPD group. RV strain showed no statistical differences between groups. However, the BPD group showed worse RV function than the NO-BPD group, using speckle tracking analysis and other conventional parameters. During the study follow-up, an improvement trend is shown in RV strain. CONCLUSIONS: RV longitudinal strain and strain rate derived by speckle tracking is feasible in preterm infants. Although there seems to be a good correlation between RV strain and BPD severity, the results of this study were not conclusive. More studies should be carried out to investigate the optimum echocardiographic screening model of RV dysfunction in BPD patients.

Arteritis de Takayasu como hallazgo incidental en un paciente con enfermedad celiaca: la importancia de la tomografía computarizada por emisión de positrones / Takayasu's arteritis as an incidental finding in a patient with celiac disease: the importance of positron emission computed tomography

Resumen Introducción: La arteritis de Takayasu es una vasculitis de grandes vasos que afecta a las arterias elásticas de gran calibre, fundamentalmente la aorta y sus ramas principales. Ocurre frecuentemente en mujeres entre los 20-30 años, por lo que es muy infrecuente en la edad pediátrica. Caso clínico: Se presenta el caso de una paciente de 15 años en seguimiento desde los 9 años por enfermedad celiaca. A los 13 años se detectó anemia de trastornos crónicos, elevación de proteína C reactiva y velocidad de sedimentación globular. La paciente permaneció en todo momento asintomática. Tras descartar otros procesos, se solicitó tomografía computarizada por emisión de positrones (PET-TC), donde se detectaron lesiones compatibles con vasculitis de grandes vasos. La valoración por Cardiología evidenció un aneurisma en coronaria derecha. Se realizó angio-TC, que sugirió arteritis de Takayasu tipo III. Conclusiones: Es frecuente un retraso en el diagnóstico de la arteritis de Takayasu en los pacientes pediátricos. En este caso se encontraron lesiones de la fase II sin la presencia de síntomas correspondientes a la fase I. El PET-TC permitió el diagnóstico de vasculitis, clave para el diagnóstico de la paciente.

Abstract Background: Takayasu arteritis is a large-vessel vasculitis which affects large-caliber elastic arteries, primarily the aorta and its main branches. It mainly affects women between 20-30 years, so it is rare in children. Case report: We describe the case of a 15-year-old female who was followed up since she was 9 years old due to celiac disease. At the age of 13, anaemia of chronic disorders associated to elevated C-reactive protein and erythrocyte sedimentation were detected. The patient remained asymptomatic. After excluding other diseases, we requested a positron emission computed tomography (PET-CT); lesions compatible with large-vessel vasculitis were detected. Cardiology evaluation showed an aneurysm in the right coronary artery. Angio-CT suggested Takayasu type III arteritis. Conclusions: The delay in the diagnosis of Takayasu arteritis in pediatric patients is quite common. In this case, we have found phase II lesions, with no previous phase I symptoms. However, PET-CT allowed the diagnosis of vasculitis, key to the diagnosis of the patient.

Atrial flutter without structural heart disease in pediatrics: a retrospective review of cases in the Hospital Infantil Miguel Servet, Zaragoza, Spain.

BACKGROUND: Atrial flutter is a rare condition in pediatrics that usually occurs as a late complication after surgery for congenital heart diseases, although it can also appear in structurally normal hearts. CLINICAL CASES: We conducted a retrospective study of cases of atrial flutter with no structural heart disease diagnosed in a pediatric population (between 0 and 15 years of age) during 2015-2021 in a tertiary hospital. A total of seven cases were diagnosed, with a clear predominance of males (6/7). Of the seven patients, five debuted in the perinatal period: two were diagnosed at 20 and 36 hours of life, and three, prenatally. Among these perinatal cases, more than half (3/5) were preterm. The treatment was electrical cardioversion. The evolution was satisfactory in these cases, and there were no tachycardias in their subsequent development. In contrast, when the debut occurred at a later age (5-7 years), it was associated with channelopathy (Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia), and electrical ablation of the ectopic focus was required due to poor response to pharmacological treatment. CONCLUSIONS: This study confirms the low incidence of this pathology in pediatrics and the benignity and good prognosis of neonatal flutter in most cases. The prognosis worsens when atrial flutter is diagnosed in older children, and the probability of concomitant associated heart disease increases.

INTRODUCCIÓN: El flutter o aleteo auricular es una patología poco frecuente en pediatría que suele presentarse como complicación tardía tras la cirugía de cardiopatías congénitas, aunque también puede aparecer en corazones estructuralmente normales. CASOS CLÍNICOS: Se llevó a cabo un estudio retrospectivo de los casos de flutter auricular sin cardiopatía estructural diagnosticados en una población pediátrica (entre 0 y 15 años de edad) durante el periodo 2015-2021 en un hospital terciario. En total fueron diagnosticados siete casos, con un claro predominio de varones (6/7). De los siete, cinco debutaron en periodo perinatal: dos fueron diagnosticados a las 20 y 36 horas de vida y tres de ellos, prenatalmente. Entre estos casos perinatales, más de la mitad (3/5) fueron pretérmino. El tratamiento fue la cardioversión eléctrica. La evolución fue satisfactoria en estos casos, y no se presentaron taquicardias en su evolución posterior. Por el contrario, cuando el debut se produjo en edades posteriores (5-7 años), se asoció con canalopatía (síndrome de Brugada y taquicardia ventricular polimorfa catecolaminérgica) que requirió de una ablación eléctrica del foco ectópico por escasa respuesta al tratamiento farmacológico. CONCLUSIONES: En este trabajo se confirma la baja incidencia de esta patología en pediatría, además de la benignidad y el buen pronóstico de flutter neonatal en la mayoría de casos. Cuando el diagnóstico se realiza en niños mayores, el pronóstico empeora, y aumenta la probabilidad de presentar de forma concomitante cardiopatías asociadas.

Atrial flutter without structural heart disease in pediatrics: a retrospective review of cases in the Hospital Infantil Miguel Servet, Zaragoza, Spain / Flutter auricular sin cardiopatía estructural en pediatría: una revisión retrospectiva de casos en el Hospital Infantil Miguel Servet, Zaragoza, España

Abstract Background: Atrial flutter is a rare condition in pediatrics that usually occurs as a late complication after surgery for congenital heart diseases, although it can also appear in structurally normal hearts. Clinical cases: We conducted a retrospective study of cases of atrial flutter with no structural heart disease diagnosed in a pediatric population (between 0 and 15 years of age) during 2015-2021 in a tertiary hospital. A total of seven cases were diagnosed, with a clear predominance of males (6/7). Of the seven patients, five debuted in the perinatal period: two were diagnosed at 20 and 36 hours of life, and three, prenatally. Among these perinatal cases, more than half (3/5) were preterm. The treatment was electrical cardioversion. The evolution was satisfactory in these cases, and there were no tachycardias in their subsequent development. In contrast, when the debut occurred at a later age (5-7 years), it was associated with channelopathy (Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia), and electrical ablation of the ectopic focus was required due to poor response to pharmacological treatment. Conclusions: This study confirms the low incidence of this pathology in pediatrics and the benignity and good prognosis of neonatal flutter in most cases. The prognosis worsens when atrial flutter is diagnosed in older children, and the probability of concomitant associated heart disease increases.

Resumen Introducción: El flutter o aleteo auricular es una patología poco frecuente en pediatría que suele presentarse como complicación tardía tras la cirugía de cardiopatías congénitas, aunque también puede aparecer en corazones estructuralmente normales. Casos clínicos: Se llevó a cabo un estudio retrospectivo de los casos de flutter auricular sin cardiopatía estructural diagnosticados en una población pediátrica (entre 0 y 15 años de edad) durante el periodo 2015-2021 en un hospital terciario. En total fueron diagnosticados siete casos, con un claro predominio de varones (6/7). De los siete, cinco debutaron en periodo perinatal: dos fueron diagnosticados a las 20 y 36 horas de vida y tres de ellos, prenatalmente. Entre estos casos perinatales, más de la mitad (3/5) fueron pretérmino. El tratamiento fue la cardioversión eléctrica. La evolución fue satisfactoria en estos casos, y no se presentaron taquicardias en su evolución posterior. Por el contrario, cuando el debut se produjo en edades posteriores (5-7 años), se asoció con canalopatía (síndrome de Brugada y taquicardia ventricular polimorfa catecolaminérgica) que requirió de una ablación eléctrica del foco ectópico por escasa respuesta al tratamiento farmacológico. Conclusiones: En este trabajo se confirma la baja incidencia de esta patología en pediatría, además de la benignidad y el buen pronóstico de flutter neonatal en la mayoría de casos. Cuando el diagnóstico se realiza en niños mayores, el pronóstico empeora, y aumenta la probabilidad de presentar de forma concomitante cardiopatías asociadas.

Isolated fetal pericardial effusion follow-up: Should we worry?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over ten years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: two patients with metabolic disease, two patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and four patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre and postnatal follow-up of these cases is recommended in order to perform an early intervention.

[Isolated fetal pericardial effusion follow-up: Should we worry?] / Seguimiento del derrame pericárdico fetal aislado: ¿debemos preocuparnos?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: 2patients with metabolic disease, 2patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and 4patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre- and posnatal follow-up of these cases is recommended in order to perform an early intervention.

Flutter auricular neonatal: presentación de tres casos / Neonatal atrial flutter: Presentation of three cases

Resumen Introducción: El flutter auricular es un tipo poco frecuente de arritmia fetal y neonatal. A pesar de que puede conducir a graves morbilidades, como hidrops fetal o incluso el fallecimiento, el diagnóstico y tratamiento precoz confieren un buen pronóstico a la mayoría de los casos. Pacientes y métodos: Se presentan tres casos de flutter auricular, dos de inicio en periodo fetal y uno en periodo neonatal, y se revisa la literatura en relación con las características clínicas, diagnósticas y terapéuticas del flutter auricular fetal y neonatal. Resultados y discusión: En el flutter auricular fetal la terapia materna con fármacos antiarrítmicos es el tratamiento más empleado durante la gestación. El tratamiento postnatal más utilizado es la cardioversión eléctrica sincronizada. El flutter auricular no suele asociar cardiopatía estructural; la recidiva neonatal es poco habitual y normalmente no precisa la administración de tratamiento profiláctico.

Abstract Introduction: Atrial flutter is a rare type of fetal and neonatal arrhythmia. Although it can lead to serious morbidities such as fetal hydrops or even death, diagnosis and early treatment confer a good prognosis in most cases. Patients and methods: Three cases of atrial flutter are presented, two of which start in the fetal period and one in the neonatal period. The literature is reviewed in relation to the clinical, diagnostic and therapeutic characteristics of fetal and neonatal atrial flutter. Results and discussion: In fetal atrial flutter maternal therapy with antiarrhythmic drugs is the most used treatment during pregnancy. The most used postnatal treatment is synchronized electrical cardioversion. Atrial flutter does not usually associate structural heart disease, neonatal recurrence is uncommon and usually does not require prophylactic treatment.

Spanish registry of percutaneous VSD closure with NitOcclud Lê VSD Coil device: lessons learned after more than a hundred implants.

INTRODUCTION AND OBJECTIVES: The NitOcclud Lê VSD Coil was specifically designed for transcatheter occlusion of ventricular septal defects (VSD) and became available for this purpose in August 2010. Our objective was to describe the Spanish experience of this technique and analyze its reliability and short- to mid-term efficacy. METHODS: National multicenter observational study, which retrospectively recruited all patients (of any age) with VSD (of any location or type) who underwent percutaneous NitOcclud occlusion, using an intention-to-treat analysis, until January 2019. RESULTS: A total of 117 attempts were made to implant at least 1 NitOcclud in 116 patients in 13 institutions. The median [range] age and weight was 8.6 [0.4-69] years and 27 [5.8-97] kg, respectively. In 99 patients (85%), the VSD was an isolated congenital defect. The location was perimembranous in 95 (81%), and 74 (63%) of them were aneurysmatic. The mean fluoroscopy time was 34 [11.4-124] minutes. Of the 117 attempts, 104 were successful (89%) with a follow-up of 31.4 [0.6-59] months. At the last review, final complete occlusion of the defect without residual shunt or with only a minimal shunt was achieved in 92.3% (no shunt, n=73; trivial shunt, n=23). Four patients required a second procedure for residual shunt occlusion. Two devices had to be surgically explanted due to severe hemolysis. There were no deaths or other major complications. CONCLUSIONS: The NitOcclud device can be used successfully for a wide anatomical spectrum of VSD. The main issue is residual shunt, but its incidence decreases over time. The incidence of hemolysis was very low and no permanent changes were detected in atrioventricular conduction.

Evolution of strain and strain rate values throughout gestation in healthy fetuses.

Myocardial deformation by speckle tracking echocardiography is a novel method for evaluating cardiac function. To test the hypothesis that right ventricular and left ventricular function have age-specific patterns of development, we tracked the evolution of ventricular strain mechanics by speckle tracking echocardiography in the fetus. We conducted a retrospective cross sectional echocardiography study in 154 healthy fetuses, and characterized cardiac function by measuring right and left ventricles global longitudinal strain and strain rate. Comparison of the data of both ventricles according to gestational age was carried out. The magnitudes of right and left ventricle global longitudinal strain show wide range values and decreased throughout gestation. Strain values are higher in left ventricle compared to the right one throughout pregnancy. Strain rate values were similar over gestation in each ventricle, but the magnitudes declined overtime in the right and left ventricle. The maturational patterns of left and right strain are gestational specific. With accepted physiological maturation patterns in healthy subjects, these myocardial deformation parameters can provide a valid basis that allows comparison between health and disease.

[Body composition evaluation by anthropometry and bioelectrical impedance analysis in childhood acute leukemia survivors]. / Evaluación de la composición corporal mediante antropometría y bioimpedanciometría en supervivientes de leucemia aguda infantil.

INTRODUCTION: Background: survivors of childhood acute leukemia are at risk for obesity. The purpose was to evaluate the different clinical measurements of body composition and to compare with body mass index (BMI). Methods: cross-sectional study of 39 survivors with more than ten years of survivorship since diagnosis. Anthropometry and body composition accuracy measurements were determined and also obesity risk factors. Results: obesity prevalence by body fat percentage were: 38.5% for BMI; 46.1% for waist circumference; 51.3% for skinfolds and 56.4% for bioelectrical impedance analysis (BIA). There was a good correlation among the measurements, but BMI underestimated the percent body fat among childhood leukemia survivors in comparison with: waist circumference (-1.03 ± 2.01), skinfolds (-2.95 ± 5.78) and BIA (-3.78 ± 7.4), and this bias appears to be more variable with increasing percent of body fat > 30%. Three patients showed sarcopenia and only one sarcopenic obesity. Waist circumference fat mass was the better predictor of cardiovascular risk factors (LDL-cholesterol: r = 0.703; HDL-cholesterol: r = -0.612; p < 0.05 and hypertension: OR 4.17; IC 95%: 1.012-19.3). Obesity risk factors were: female sex, high-risk tumor, radiotherapy and stem cell transplantation. Conclusions: BMI underestimates obese childhood leukemia survivors in comparison with waist circumference, skinfolds and bioelectrial impedance analysis. BMI use could misclassify obese survivors as non-obese. Female sex, high tumoral risk and coadyuvant treatments (radiotherapy and stem cell transplant) are risk factors for adiposity.

INTRODUCCIÓN: Introducción: los supervivientes de leucemia aguda infantil (LAI) tienen riesgo de desarrollar obesidad. El objetivo del estudio fue evaluar la composición corporal en estos pacientes mediante las diferentes técnicas de empleadas en la práctica clínica y compararlas con el empleo del índice de masa corporal (IMC). Métodos: estudio transversal de 39 supervivientes de LAI con más de diez años desde el diagnóstico. Se evaluó el grado de acuerdo entre diferentes técnicas antropométricas y composición corporal y se analizaron factores de riesgo asociados al desarrollo de obesidad. Resultados: prevalencia de obesidad según porcentaje masa grasa por IMC 38,5%, perímetro cintura 46,1%, sumatorio cuatro pliegues 51,3% y bioimpedanciometría (BIA) 56,4%. Existe adecuada correlación entre los métodos, pero el IMC infraestima la adiposidad respecto al perímetro de cintura (-1,03 ± 2,01), pliegues (-2,95 ± 5,78 y BIA (-3,78 ± 7,4), con mayor infraestimación en % masa magra > 28%. Tres pacientes mostraron sarcopenia y solo uno, obesidad sarcopénica. La adiposidad estimada por el perímetro de cintura fue el parámetro con mejor asociación con los factores de riesgo cardiovascular (colesterol-LDL: r = 0,703; colesterol-HDL: r = -0,612; p < 0,05 e hipertensión: OR 4,17; IC 95%: 1,012-19,3). Los factores de riesgo asociados a obesidad fueron: sexo femenino, alto riesgo tumoral, tratamiento con radioterapia y trasplante de progenitores hematopoyéticos. Conclusiones: el IMC infraestima el porcentaje de supervivientes obesos respecto al empleo del perímetro de cintura, pliegues cutáneos y bioimpedanciometría, existiendo riesgo de clasificar erróneamente a sujetos obesos como no obesos. El sexo femenino, el alto riesgo tumoral, la radioterapia y el trasplante son factores de riesgo para presentar obesidad.

[Brain natriuretic peptide as a marker of digestive evolution in the premature newborn]. / Propéptido natriurético cerebral como marcador de evolución digestiva en el recién nacido prematuro.

INTRODUCTION: Background and objective: hemodynamically significant patent ductus arteriosus (HS-PDA) is associated with an increased risk of necrotizing enterocolitis (NEC) and worse enteral tolerance in preterm newborns (PN). An association has been demonstrated between brain natriuretic propeptide (proBNP) and HS-PDA. Our objective was to analyze the relationship between proBNP levels and enteral tolerance, NEC risk and weight gain in PN. Material and methods: a retrospective study was performed in neonates born before 32 weeks' gestation or with birth weight below 1500 grams, in whom proBNP determination and echocardiography were performed at 48 to 72 h of life. Results: 117 patients were included. 65.8% had a HS-PDA and 9.4% had an outcome of NEC. HS-PDA was associated with longer duration of parenteral nutrition (p < 0.001), a confirmed NEC (p = 0.006) and worse weight gain during admission (p < 0.001). ProBNP levels were associated to NEC (no NEC 12189.5 pg / mL, range 654-247986; NEC 41445 pg/mL, range 15275-166172, p < 0.001). No association was found with the rest of gastrointestinal outcomes. Multivariate logistic regression analysis showed a significant association of NEC with gestational age and proBNP above 22,400 pg/mL (OR 13,386, 95% CI 1,541-116,262, p = 0.019). Conclusions: proBNP could be an early marker of severe digestive pathology in PN. Increased proBNP levels could be associated with a significant increased risk of NEC in very immature newborns.

INTRODUCCIÓN: Antecedentes y objetivo: el ductus arterioso persistente hemodinámicamente significativo (DAP-HS) se asocia a mayor riesgo de enterocolitis necrotizante (ECN) y peor tolerancia enteral en los recién nacidos prematuros (RNPT). Se ha demostrado asociación entre el propéptido natriurético cerebral (proBNP) y el DAP-HS. Nuestro objetivo fue analizar la relación entre los niveles de proBNP y la tolerancia enteral, el riesgo de ECN y la ganancia ponderal en el RNPT. Material y métodos: estudio retrospectivo observacional, que incluyó a RNPT menores de 32 semanas de gestación y/o 1.500 g, con estudio ecocardiográfico y determinación de niveles de proBNP a las 48-72 horas de vida. Resultados: de 117 pacientes incluidos, el 65,8% tuvo un DAPHS y el 9,4% presentó ECN confirmada. El DAP-HS se asoció a mayor duración de la nutrición parenteral (p < 0,001), a ECN confirmada (p = 0,006) y a peor ganancia ponderal durante el ingreso (p < 0,001). Los valores de proBNP se relacionaron con la ECN (no ECN 12.189,5 pg/ml, rango 654-247.986; ECN 41.445 pg/ml, rango 15.275-166.172; p < 0,001), sin encontrar asociación con el resto de variables de evolución digestiva. En el análisis multivariante de regresión logística, las variables relacionadas de forma independiente con el desarrollo de ECN fueron la edad gestacional y el proBNP superior a 22.400 pg/ml (OR 13,386; IC 95% 1,541-116,262; p = 0,019). Conclusiones: el proBNP podría ser un marcador precoz de patología digestiva grave en el RNPT. Los niveles elevados podrían relacionarse con mayor riesgo de ECN en los neonatos más inmaduros.

Evolución cardiológica postnatal y factores asociados a la agenesia de ductus venoso de diagnóstico prenatal / Postnatal cardiac outcomes associated with the prenatal diagnosis of absence of ductus venosus

Resumen Introducción: la agenesia del ductus venoso es una anomalía infrecuente con pronóstico variable. Puede ir de hallazgo aislado a producir muerte fetal. Así mismo, puede asociarse a otras anomalías y síndromes genéticos. Material y métodos: estudio descriptivo de 12 niños con diagnóstico prenatal de agenesia del ductus venoso. Se evaluó lugar de drenaje de vena umbilical, variables perinatales, obstétricas, otras anomalías asociadas y evolución. Resultados: el 75% (9/12) presentaba drenaje extrahepático de vena umbilical; de ellos, el 44,4% (4/9) presentó insuficiencia cardiaca fetal. Al nacimiento, un 50% (6/12) asociaba anomalías cardiacas estructurales y un 41,6% (5/12) precisaron tratamiento médico. El 25% (3/12) asociaba síndromes genéticos. 25% (3/12) de niños fallecieron (100% con cardiopatía), y un tercio de los supervivientes (3/9) presentó anomalías estructurales cardiacas. El 50% (6/12) de madres tenían antecedente de aborto o muerte fetal intraútero previa, 25% (3/12) de embarazos fueron producto de reproducción asistida y 25% (3/12) de gestaciones múltiples. Conclusiones: se halló una incidencia elevada de defectos estructurales cardiacos en niños con agenesia del ductus venoso. Son más usuales si el drenaje es extrahepático y en ellos hay mayor frecuencia de anomalías genéticas y mortalidad. Un porcentaje importante de pacientes precisan tratamiento perinatal; la evolución es satisfactoria en los supervivientes.

Abstract Introduction: The absence of ductus venosus is an uncommon condition with a variable prognosis, which can vary from an isolated finding to causing foetal death. Furthermore, it can also be associated with other genetic anomalies and syndromes. Material and method: A descriptive study was conducted on 12 children with a prenatal diagnosis of absence of ductus venosus. An evaluation was made of the umbilical vein drainage site, perinatal and obstetric variables, other associated anomalies, and the outcomes. Results: Extra-hepatic drainage of the umbilical vein was observed in 75% (9/12) of cases, of which 44.4% (4/9) had foetal heart failure. At birth, 50% (6/12) were associated with cardiac structure anomalies, and 41.6% (5/12) required medical treatment. Genetic syndromes were detected in 25% (3/12) of cases. There were 25% (3/12) deaths (100% with heart disease), and one-third (3/9) of the survivors had cardiac structure anomalies. A history of abortion or previous intrauterine death was recorded in 50% (6/12) of the mothers, and in 25% (3/12) the pregnancies were the result of assisted reproduction, and 25% (3/12) multiple gestations. Conclusions: An elevated incidence of cardiac structure defects is found in children with absence of ductus venosus. They are more common if the drainage is extrahepatic, and within those, there is a higher frequency of genetic anomalies and death. A significant percentage of patients require perinatal treatment: The outcome is satisfactory in the survivors.

Use of speckle tracking in the evaluation of late subclinical myocardial damage in survivors of childhood acute leukaemia.

Heart disease is the leading cause of non-cancer death in childhood cancer survivors. to determine the prevalence of subclinical cardiac dysfunction using speckle tracking and compare its results with those obtained by classical methods of assessing left ventricular function and its relationship with different factors to identify the population at higher risk. Echocardiographic assessment of left ventricular function included ejection fraction, tissue Doppler, longitudinal/circumferential strains and biochemical parameters (troponin-T and Pro-BNP) in a cohort of 57 survivors of childhood acute leukaemia with at least 10 years since diagnosis. Ventricular dysfunction was found in 5.2% of patients in M-mode (ejection fraction-EF < 53% with a reduction in the EF ≥ 10%) and in 7% of patients with Simpson's method, compared with 21.05 and 8.8% with suboptimal global longitudinal strain (GLS) and global circumferential strain, respectively. The GLS alteration was significantly correlated with lower values of left ventricular systolic function and was associated with high tumour risk (odds ratio [OR] 13.8), cumulative doses of anthracyclines ≥ 250 mg/m2 (OR 7.6) and radiotherapy (OR 7.19). Biomarkers were not useful for the diagnosis of subclinical cardiomyopathy. Good reproducibility was obtained, with an intraobserver correlation of 93.6% and an interobserver correlation of 89.2% in the GLS. The alteration of the GLS was more prevalent than the alteration in the EF and was associated with the treatment received and high tumour risk. strain imaging seems to be a powerful tool to identify an increased number of survivor with an early myocardial injury.