Situación actual de la formación sanitaria especializada en pediatría y sus áreas específicas: retos y necesidades / Current situation of Specialized Health Training in pediatrics and its specific areas: challenges and needs

El desarrollo de las subespecialidades pediátricas constituye uno de los hechos más destacados de la pediatría de nuestro país desde mediados del siglo XX. La formación sanitaria especializada (FSE) en pediatría está actualmente basada en la orden SCO/3148/2006, de 20 de septiembre, por la que se aprueba y publica el programa formativo de la especialidad de pediatría y sus áreas específicas. Es un programa formativo estructurado en cuatro años que consigue formar al residente en las competencias necesarias de la pediatría, incluyendo la formación en unas competencias transversales, una formación en pediatría general y debe incluir además la formación en las diferentes áreas específicas. En 1995, el Consejo Nacional de Especialidades Médicas aprueba el concepto de área de capacitación específica (ACE). En Pediatría las ACE son necesarias para garantizar una adecuada asistencia sanitaria a la población infanto-juvenil, al mismo nivel que la medicina del adulto, asegurando mediante una formación reglada, una asistencia de calidad y uniforme. Se trata de dar un reconocimiento oficial a lo que hoy en día es una realidad asistencial en los hospitales españoles, en cualquier Comunidad Autónoma. (AU)

The development of pediatric subspecialties constitutes one of the most outstanding events in pediatrics in our country since the mid-20th century. The specialized health training (SHT) in pediatrics is currently based on order SCO/3148/2006, of September 20, which approves and publishes the training program for the specialty of pediatrics and its specific areas. It is a training program structured in 4 years that manages to train the resident in the necessary skills of pediatrics, including training in transversal skills, training in general pediatrics and must also include training in different specific areas. In 1995 was approved the specific training area (STA). In pediatrics, STAs are necessary to guarantee adequate health care for the child and adolescent population, at the same level as adult medicine, ensuring through regulated training, quality and uniform care. We want to give official recognition to what today is a healthcare reality in all the Spanish hospitals. (AU)

Current situation of Specialized Health Training in pediatrics and its specific areas: Challenges and needs.

The development of pediatric subspecialties constitutes one of the most outstanding events in pediatrics in our country since the mid-20th century. The FSE in pediatrics is currently based on order SCO/3148/2006, of September 20, which approves and publishes the training program for the specialty of pediatrics and its Specific Areas. It is a training program structured in 4 years that manages to train the resident in the necessary skills of pediatrics, including training in transversal skills, training in general pediatrics and must also include training in different specific areas. In 1995 was approved the Specific Training Area (ACE). In pediatrics, ACEs are necessary to guarantee adequate health care for the child and adolescent population, at the same level as adult medicine, ensuring through regulated training, quality and uniform care. We want to give official recognition to what today is a healthcare reality in all the Spanish hospitals.

Results of catheter ablation with zero or near zero fluoroscopy in pediatric patients with supraventricular tachyarrhythmias.

INTRODUCTION AND OBJECTIVES: Ionizing radiation exposure in catheter ablation procedures carries health risks, especially in pediatric patients. Our aim was to compare the safety and efficacy of catheter ablation guided by a nonfluoroscopic intracardiac navigation system (NFINS) with those of an exclusively fluoroscopy-guided approach in pediatric patients. METHODS: We analyzed catheter ablation results in pediatric patients with high-risk accessory pathways or supraventricular tachycardia referred to our center during a 6-year period. We compared fluoroscopy-guided procedures (group A) with NFINS guided procedures (group B). RESULTS: We analyzed 120 catheter ablation procedures in 110 pediatric patients (11±3.2 years, 70% male); there were 62 procedures in group A and 58 in group B. We found no significant differences between the 2 groups in procedure success (95% group A vs 93.5% group B; P=.53), complications (1.7% vs 1.6%; P=.23), or recurrences (7.3% vs 6.9%; P = .61). However, fluoroscopy time (median 1.1minutes vs 12minutes; P <.0005) and ablation time (median 96.5seconds vs 133.5seconds; P=.03) were lower in group B. The presence of structural heart disease was independently associated with recurrence (P=.03). CONCLUSIONS: The use of NFINS to guide catheter ablation procedures in pediatric patients reduces radiation exposure time. Its widespread use in pediatric ablations could decrease the risk of ionizing radiation.

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.

Dos nuevos casos autosómicos recesivos del síndrome de Noonan asociados con variantes del gen LTZR1 / Two novel cases of autosomal recessive Noonan syndrome associated with LZTR1 variants

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La expresividad variable del síndrome de QT largo de una familia española se explica por la heterocigosis digénica en SCN5A y CACNA1C / Digenic heterozigosity in SCN5A and CACNA1C explains the variable expressivity of the long QT phenotype in a Spanish family

Introducción y objetivos: En 4 miembros de una familia española se identificó una mutación en los canales cardiacos Nav1.5 (p.R1644H) descrita ya y relacionada con el síndrome de QT largo con anterioridad. Sin embargo, solo 1 de los portadores presentaba el intervalo QT prolongado. En los otros 3 individuos se identificó una nueva mutación con cambio de sentido en los canales cardiacos Cav1.2 (p.S1961N). En este trabajo se analizaron las características funcionales de los canales p.S1961N Cav1.2 para averiguar si dicha mutación regula la expresividad del síndrome de QT largo en esta familia. Métodos: La corriente de calcio tipo L (ICaL) se registró mediante la técnica de patch-clamp en células de ovario de hámster chino transfectadas transitoriamente con los canales cardiacos humanos en su forma nativa o mutada. Resultados: La expresión de canales p.S1961N disminuye significativamente la densidad de la ICaL. Al sustituir el ion calcio por bario para suprimir la inactivación dependiente del calcio de los canales Cav1.2, se demostró que la mutación acelera significativamente la inactivación dependiente del voltaje de los canales Cav1.2 y disminuye la constante de tiempo de inactivación. Como consecuencia, la carga total que atraviesa los canales p.S1961N Cav1.2 disminuye significativamente. Los efectos que las mutaciones p.S1961N Cav1.2 y p.R1644H Nav1.5, por separado o en combinación, producen sobre las características de los potenciales de acción (PA) se simularon mediante un modelo matemático de PA ventriculares humanos. Los resultados demuestran que la mutación p.S1961N Cav1.2 abrevia la duración del PA y suprime la prolongación inducida por la mutación p.R1644H de los canales Nav1.5. Conclusiones: La mutación p.S1961N en los canales Cav1.2 disminuye la ICaL, un efecto que podría abreviar la duración de los PA ventriculares humanos. La presencia de esta mutación que disminuye la función de los canales Cav1.2 compensa funcionalmente los efectos producidos por la mutación de los canales Nav1.5 que aumenta su función y prolonga la duración de los PA

Introduction and objectives: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. Methods: L-type calcium current (ICaL) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p.S1961N Cav1.2 channels. Results: Expression of p.S1961N channels significantly decreased ICaL density. Using Ba as a charge carrier to suppress the Ca-dependent inactivation of Cav1.2 channels, we demonstrated that the mutation significantly accelerates the voltage-dependent inactivation of Cav1.2 channels decreasing the inactivation time constant. As a consequence, the total charge flowing through p.S1961N Cav1.2 channels significantly decreased. The effects of the p.S1961N Cav1.2 and p.R1644H Nav1.5 mutations alone or their combination on the action potential (AP) morphology were simulated using a validated model of the human ventricular AP. The p.S1961N Cav1.2 mutation shortens the AP duration and abrogates the prolongation induced by p.R1644H Nav1.5 channels. Conclusions: The p.S1961N mutation in Cav1.2 channels decreased the ICaL, an effect which might shorten ventricular AP. The presence of the loss-of-function Cav1.2 mutation could functionally compensate the prolonging effects produced by the Nav1.5 gain-of-function mutation

Sobrepeso y obesidad en niños intervenidos de cardiopatía congénita / Overweight and obesity in children treated for congenital heart disease

Introducción: El impacto negativo del sobrepeso y la obesidad es potencialmente mayor en niños con cardiopatía congénita (CC). El objetivo del estudio es determinar la proporción de sobrepeso y obesidad en niños intervenidos de CC y valorar la existencia de hipertensión arterial sistólica como posible complicación precoz. Pacientes y métodos: Estudio descriptivo retrospectivo, incluyendo pacientes intervenidos de CC y controles sanos entre 6 y 17 años en seguimiento en una consulta de Cardiología Pediátrica. Se calcularon los percentiles del índice de masa corporal según las tablas de la OMS y se analizaron variables antropométricas, clínicas y valores de tensión arterial sistólica (TAS). Resultados: Se incluyeron 440 pacientes, 220 intervenidos de CC. La prevalencia de exceso de peso (percentil del índice de masa corporal ≥ 85) fue del 36,4% (el 37,3% en controles y el 35,4% en cardiópatas, p = 0,738). Hubo una proporción más alta de obesidad (percentil del índice de masa corporal ≥ 97) en afectos de CC (22,7%) que en controles (15,5%) (p = 0,015). Los niños con exceso de peso tuvieron percentiles de TAS más altos (p < 0,001). La prevalencia de percentiles de TAS ≥ 95 fue mayor en los pacientes con CC con exceso de peso que en los normopeso (29,5 vs. 7,7%, p < 0,001) y en los controles sanos con exceso de peso que en los normopeso (12,2 vs. 0,7%, p < 0,001). Conclusiones: La proporción de obesidad es alta en niños intervenidos de CC y se asocia a valores de TAS elevados. Es crucial reducir el riesgo de complicaciones a largo plazo mediante la prevención y el tratamiento de la obesidad en esta población tan vulnerable

Introduction: The negative impact of overweight and obesity is potentially greater in children affected by a congenital heart disease (CHD). The aim of this study is to calculate the proportion of overweight and obesity in children who underwent an intervention for CHD, and to investigate systolic arterial hypertension as a possible early cardiovascular complication. Patients and methods: A retrospective study was conducted on patients aged 6-17 years treated for CHD, and healthy control subjects, followed-up in a Paediatric Cardiology Clinic. Body mass index percentiles were calculated according to the criteria of WHO. A review was performed on the anthropometric and clinical data, as well as the systolic blood pressure (SBP). Results: A total of 440 patients were included, of which 220 had CHD. The proportion of combined obesity and overweight (body mass index percentile ≥85) was 36.4% (37.3% in healthy subjects and 35.4% in patients with CHD, P = .738). A higher prevalence of obesity (body mass index percentile ≥97) was found in CHD patients (22.7%) compared to 15.5% in healthy subjects (P = .015). SBP percentiles were higher in overweight compared to normal-weight patients (P < .001). The prevalence of SBP readings ≥ the 95th percentile was greater in overweight than in normal weight CHD patients (29.5% versus 7.7%, P < .001) and also in the overweight healthy controls compared to those of normal weight (12.2% versus 0.7%, P < .001). Conclusions: The proportion of obesity is high in children treated for CHD and it is associated with elevated SBP levels. The risk of long-term complications needs to be reduced by means of prevention and treatment of obesity in this vulnerable population

Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.

INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p.S1961N Cav1.2 channels. RESULTS: Expression of p.S1961N channels significantly decreased ICaL density. Using Ba as a charge carrier to suppress the Ca-dependent inactivation of Cav1.2 channels, we demonstrated that the mutation significantly accelerates the voltage-dependent inactivation of Cav1.2 channels decreasing the inactivation time constant. As a consequence, the total charge flowing through p.S1961N Cav1.2 channels significantly decreased. The effects of the p.S1961N Cav1.2 and p.R1644H Nav1.5 mutations alone or their combination on the action potential (AP) morphology were simulated using a validated model of the human ventricular AP. The p.S1961N Cav1.2 mutation shortens the AP duration and abrogates the prolongation induced by p.R1644H Nav1.5 channels. CONCLUSIONS: The p.S1961N mutation in Cav1.2 channels decreased the ICaL, an effect which might shorten ventricular AP. The presence of the loss-of-function Cav1.2 mutation could functionally compensate the prolonging effects produced by the Nav1.5 gain-of-function mutation.

[Overweight and obesity in children treated for congenital heart disease]. / Sobrepeso y obesidad en niños intervenidos de cardiopatía congénita.

INTRODUCTION: The negative impact of overweight and obesity is potentially greater in children affected by a congenital heart disease (CHD). The aim of this study is to calculate the proportion of overweight and obesity in children who underwent an intervention for CHD, and to investigate systolic arterial hypertension as a possible early cardiovascular complication. PATIENTS AND METHODS: A retrospective study was conducted on patients aged 6-17 years treated for CHD, and healthy control subjects, followed-up in a Paediatric Cardiology Clinic. Body mass index percentiles were calculated according to the criteria of WHO. A review was performed on the anthropometric and clinical data, as well as the systolic blood pressure (SBP). RESULTS: A total of 440 patients were included, of which 220 had CHD. The proportion of combined obesity and overweight (body mass index percentile ≥85) was 36.4% (37.3% in healthy subjects and 35.4% in patients with CHD, P=.738). A higher prevalence of obesity (body mass index percentile ≥97) was found in CHD patients (22.7%) compared to 15.5% in healthy subjects (P=.015). SBP percentiles were higher in overweight compared to normal-weight patients (P < .001). The prevalence of SBP readings ≥ the 95th percentile was greater in overweight than in normal weight CHD patients (29.5% versus 7.7%, P < .001) and also in the overweight healthy controls compared to those of normal weight (12.2% versus 0.7%, P < .001). CONCLUSIONS: The proportion of obesity is high in children treated for CHD and it is associated with elevated SBP levels. The risk of long-term complications needs to be reduced by means of prevention and treatment of obesity in this vulnerable population.

La miocardiopatía dilatada con intervalo QT corto indica un déficit primario de carnitina / Dilated cardiomyopathy with short QT interval suggests primary carnitine deficiency

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Diagnóstico clínico y genético de la muerte súbita cardiaca de origen no isquémico / Clinical and genetic diagnosis of nonischemic sudden cardiac death

Introducción y objetivos: La muerte súbita cardiaca (MSC) de origen no isquémico está causada predominantemente por miocardiopatías y canalopatías. La batería de test diagnósticos es amplia e incluye pruebas complejas. El objetivo de nuestro estudio es analizar la rentabilidad diagnóstica del estudio etiológico sistematizado de la MSC. Métodos: Se estudió a 56 familias con al menos 1 caso índice con MSC (reanimada o no). En los supervivientes se exploró con electrocardiograma, imagen cardiaca avanzada, ergometría, estudio familiar, estudio genético y, puntualmente, test farmacológicos. En los fallecidos se examinó la necropsia, así como la autopsia molecular con next generation sequencing (NGS), junto con estudio clínico familiar. Resultados: El diagnóstico se alcanzó en el 80,4% de los casos, sin diferencias entre supervivientes y fallecidos (p = 0,53). Entre los supervivientes, el diagnóstico de canalopatía fue más frecuente que entre los fallecidos (el 66,6 frente al 40%; p = 0,03). De los 30 sujetos fallecidos, en 7 la autopsia aportó un hallazgo concluyente. El diagnóstico de miocardiopatía tendía a asociarse con mayor tasa de eventos en la familia. El test genético con NGS se realizó en 42 de los casos; se obtuvo resultado positivo en 28 (66,6%), sin diferencias entre supervivientes y fallecidos (p = 0,21). Conclusiones: La probabilidad de alcanzar el diagnóstico en la MSC tras un protocolo exhaustivo es alta, con mayor prevalencia de canalopatías en los supervivientes y un aparente peor pronóstico en las miocardiopatías. El test genético mediante NGS muestra utilidad en casos de MSC e incrementa la rentabilidad respecto al estudio con Sanger (AU)

Introduction and objectives: Nonischemic sudden cardiac death (SCD) is predominantly caused by cardiomyopathies and channelopathies. There are many diagnostic tests, including some complex techniques. Our aim was to analyze the diagnostic yield of a systematic diagnostic protocol in a specialized unit. Methods: The study included 56 families with at least 1 index case of SCD (resuscitated or not). Survivors were studied with electrocardiogram, advanced cardiac imaging, exercise testing, familial study, genetic testing and, in some cases, pharmacological testing. Families with deceased probands were studied using the postmortem findings, familial evaluation, and molecular autopsy with next-generation sequencing (NGS). Results: A positive diagnosis was obtained in 80.4% of the cases, with no differences between survivors and nonsurvivors (P = .53). Cardiac channelopathies were more prevalent among survivors than nonsurvivors (66.6% vs 40%, P = .03). Among the 30 deceased probands, the definitive diagnosis was given by autopsy in 7. A diagnosis of cardiomyopathy tended to be associated with a higher event rate in the family. Genetic testing with NGS was performed in 42 index cases, with a positive result in 28 (66.6%), with no differences between survivors and nonsurvivors (P = .21). Conclusions: There is a strong likelihood of reaching a diagnosis in SCD after a rigorous protocol, with a more prevalent diagnosis of channelopathy among survivors and a worse familial prognosis in cardiomyopathies. Genetic testing with NGS is useful and its value is increasing with respect to the Sanger method (AU)

Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.

INTRODUCTION AND OBJECTIVES: Nonischemic sudden cardiac death (SCD) is predominantly caused by cardiomyopathies and channelopathies. There are many diagnostic tests, including some complex techniques. Our aim was to analyze the diagnostic yield of a systematic diagnostic protocol in a specialized unit. METHODS: The study included 56 families with at least 1 index case of SCD (resuscitated or not). Survivors were studied with electrocardiogram, advanced cardiac imaging, exercise testing, familial study, genetic testing and, in some cases, pharmacological testing. Families with deceased probands were studied using the postmortem findings, familial evaluation, and molecular autopsy with next-generation sequencing (NGS). RESULTS: A positive diagnosis was obtained in 80.4% of the cases, with no differences between survivors and nonsurvivors (P=.53). Cardiac channelopathies were more prevalent among survivors than nonsurvivors (66.6% vs 40%, P=.03). Among the 30 deceased probands, the definitive diagnosis was given by autopsy in 7. A diagnosis of cardiomyopathy tended to be associated with a higher event rate in the family. Genetic testing with NGS was performed in 42 index cases, with a positive result in 28 (66.6%), with no differences between survivors and nonsurvivors (P=.21). CONCLUSIONS: There is a strong likelihood of reaching a diagnosis in SCD after a rigorous protocol, with a more prevalent diagnosis of channelopathy among survivors and a worse familial prognosis in cardiomyopathies. Genetic testing with NGS is useful and its value is increasing with respect to the Sanger method.