Assessing pulmonary hypertensive vascular disease in childhood. Data from the Spanish registry.

RATIONALE: There is a lack of knowledge regarding the epidemiology, clinical characterization, and survival in pediatric pulmonary hypertension. OBJECTIVES: To describe the epidemiology, outcomes, and risk factors for mortality in pediatric pulmonary hypertension in Spain. METHODS: We analyzed data from the Spanish Registry for Pediatric Pulmonary Hypertension. From January 2009 to June 2012, a total of 225 patients diagnosed with pulmonary hypertension in 1998 or after were collected from 21 referral and nonreferral centers. We included all Nice etiologies, estimated incidence and prevalence of pulmonary hypertension in the Spanish pediatric population, and analyzed risk factors for mortality (Nice etiologic group, clinical and hemodynamic variables). Patients were classified as follows: group I, pulmonary arterial hypertension (n = 142; 61%); group II, left heart disease (n = 31; 14%); group III, respiratory disease (n = 41; 18%); group IV, thromboembolic pulmonary hypertension (n = 2; 1%); or group V, mostly inherited metabolic diseases (n = 10; 4.5%). Of the patients studied, 31% had multifactorial pulmonary hypertension. MEASUREMENTS AND MAIN RESULTS: Mean age at diagnosis was 4.3 ± 4.9 years (50% < 2 yr). Survival rates at 1 and 3 years were 80 and 74% for the whole cohort, and 89 and 85% for patients with pulmonary arterial hypertension. Independent risk factors for mortality included an etiologic group other than pulmonary arterial hypertension (P < 0.001), age at diagnosis younger than 2 years old (P < 0.001), advanced functional class at diagnosis (P < 0.001), and high right atrial pressure at diagnosis (P = 0.002). CONCLUSIONS: In moderate to severe pediatric pulmonary hypertension, the prognosis is better in pulmonary arterial hypertension than in other Nice categories. In pediatric pulmonary hypertension age at diagnosis younger than 2 years is a risk factor for mortality, in addition to the previously established risk factors.

Hipertensión pulmonar en Pediatría / Pulmonary hypertension in pediatrics

En la hipertensión pulmonar (HTP) en el niño podemos encontrar prácticamente cualquiera de las etiologías de la clasificación de la OMS y patologías específicas de la edad pediátrica, como la hipertensión pulmonar persistente del recién nacido, o la asociada a enfermedades metabólicas, aunque sin duda el grupo más numerosos lo constituye el de la hipertensión pulmonar asociada a cardiopatía congénita. Carecemos de clasificaciones, documentos de consenso y protocolos diagnósticos y terapéuticos específicos para la HTP pediátrica, a la que por defecto se aplican los protocolos creados para la enfermedad del adulto. Sin embargo, en los últimos años, se ha puesto de manifiesto que el espectro de la HTP en el niño es mucho más complejo y heterogéneo que en el adulto, siendo muy frecuente asociación de síndromes polimalformativos o cromosomopatías en los enfermos pediátricos con HTP. La publicación de registros de HTP pediátrica, como el de Suiza, Reino Unido, Holanda o Francia ha aportado información sobre la epidemiología de esta enfermedad en los niños, con prevalencia para la HTP idiopática en torno a 3,7 casos /millón de habitantes (similares a las reportadas en los adultos). La forma más frecuente de HTP en el niño es la asociada a cardiopatía congénita (tanto reparada como no reparada), que supone más de 50% de todas las series. También se han publicado interesantes revisiones sobre el diagnóstico, sobre los valores normales para el test de los 6 minutos en niños y marcadores biológicos como el ác. Úrico o el BNP, que han facilitado la estratificación del riesgo de los pacientes pediátricos con HTP. Se revisan los distintos protocolos de tratamiento de la hipertensión arterial en el niño (AU)

In pulmonary hypertension (PHT) in the child, we may find almost any one of the etiologies of the WHO classification and specific conditions of the pediatric age, such as persistent pulmonary hypertension of the newborn, or that associated to metabolid diseases, although undoubtedly the most numerous group is made up of those with pulmonary hypertension associated to congenital heart disease. We lack classifications, consensus documents, and diagnostic and therapeutic protocols specific for pediatric PHT, for which, the protocols created for the disease of the adults are applied. However, in recent years, it has become manifest that the spectrum of the PHT in the child is much more complex and heterogeneous than in the adult, cases with multifactorial etiologies are common in the pediatric pulmonary hypertension, and also the association of multiple congenital malformation syndromes or chromosomopathies in the pediatric patients with PHT. The publication of registries of pediatric PHT, as that of Switzerland, the United Kingdom, Holland, or France, have provided information on the epidemiology of this disease in children, with prevalence’s for idiopathic PHT at approximately 3.7 cases/million inhabitants (similar to those reported in the adult). The most frequent form of PHT in the child is that associated with congenital heart disease (bot repaired and not repaired), that accounts for more than 50% of all the series. Interesting reviews have also been published on the diagnosis, on the normal values for the 6-minute test in children, and biological markers such as that of uric acid or BNP, that have facilitated the stratification of risk of the pediatric patients with PHT. The different arterial hypertension treatment protocols in the child are reviewed (AU)

Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia / Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children

La telangiectasia hemorrágica hereditaria (HHT) o síndrome de Rendu-Osler-Weber es una entidad de las consideradas como «enfermedades raras» (afecta a uno de cada 3.000–8.000 individuos) cuya herencia autosómica dominante va determinada por la alteración en la codificación de los genes endoglina (ENG) y activin like Kinase 1, (ALK1) que causan el tipo 1 y 2 respectivamente de la HHT y conducen a displasia en el endotelio de la pared vascular debido a haploinsuficiencia para endoglina. Esto da lugar a una serie de manifestaciones clínicas que consisten básicamente en epistaxis repetidas, telangiectasias mucocutáneas y malformaciones arteriovenosas (MAV) viscerales. A continuación se presenta el caso clínico de un niño de 11 años que desarrolló hipoxemia franca debido a múltiples fístulas arteriovenosas pulmonares (AU)

Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000–5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM).We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations (AU)

[Three-dimensional echocardiography: preliminary experience in congenital cardiac disease]. / Ecocardiografía tridimensional: experiencia preliminar en las cardiopatías congénitas.

INTRODUCTION: Anatomical comprehension of congenital cardiac diseases by 2D echocardiography is occasionally very difficult. 3D echocardiography provides a more spatial anatomical information avoiding the need of two-dimensional reconstruction. METHODS: Of the 271 cases studied 80 were foetal and 191 patients. In all cases, 2D and 3D echocardiography was performed (Sonos 7500 with matrix probe). Four modes of 3D imaging were used. RESULTS: 3D echocardiography gave an accurate description of the size, form and wedges of septals defects. In atrioventricular septal defects and mitral anomalies, 3D echocardiography was useful for the assessment of dynamic valve morphology and mechanisms of regurgitation. In foetal screening the segmentary heart study was carried out from a single acoustic window. CONCLUSIONS: 3D real time echocardiography is a feasible, easy and rapid technique. It provides anatomical and functional details needed for an accurate comprehension of congenital cardiac diseases. In foetal screening, it provides an easier segmentary analysis of the entire foetal heart.

Ecocardiografía tridimensional: experiencia preliminar en las cardiopatías congénitas / Three-dimensional echocardiography: preliminary experience in congenital cardiac disease

Introducción: Las cardiopatías congénitas pueden presentar una anatomía difícil de interpretar. La ecocardiografía tridimensional aporta imágenes únicas sin necesidad de reconstrucción mental anatómica tan a menudo necesaria en la ecocardiografía bidimensional. Material y métodos: Se estudiaron 271 casos: 80 registros fetales y 191 transtorácicos. En todos se realizó ecocardiografía bidimensional (2D) y tridimensional (3D) (equipo Philips Sonos 7500, con sonda matricial) con cuatro modalidades de ecografía 3D: 3D tiempo real, biplano, color y volumen completo. Resultados: En los defectos septales, esta técnica definió de manera precisa el tamaño, la forma y los bordes. En los canales auriculoventriculares y anomalías mitrales determinó la anatomía y mecanismos de regurgitación y estenosis. En el cribado fetal permitió un estudio segmentario del corazón fetal. Conclusiones: La ecocardiografía 3D en tiempo real es una técnica factible, sencilla y rápida. Aporta detalles anatómicos y funcionales esenciales en las cardiopatías congénitas. El rastreo fetal facilita un análisis segmentario completo del corazón fetal

Introduction: Anatomical comprehension of congenital cardiac diseases by 2D echocardiography is occasionally very difficult. 3D echocardiography provides a more spatial anatomical information avoiding the need of two-dimensional reconstruction. Methods: Of the 271 cases studied 80 were foetal and 191 patients. In all cases, 2D and 3D echocardiography was performed (Sonos 7500 with matrix probe). Four modes of 3D imaging were used. Results: 3D echocardiography gave an accurate description of the size, form and wedges of septals defects. In atrioventricular septal defects and mitral anomalies, 3D echocardiography was useful for the assessment of dynamic valve morphology and mechanisms of regurgitation. In foetal screening the segmentary heart study was carried out from a single acoustic window. Conclusions: 3D real time echocardiography is a feasible, easy and rapid technique. It provides anatomical and functional details needed for an accurate comprehension of congenital cardiac diseases. In foetal screening, it provides an easier segmentary analysis of the entire foetal heart

Retraso diagnóstico de una coartación aórtica a los 6 años: ¿se puede evitar? / Delayed diagnosis of aortic coarctation in a six-year-old: can it be avoid?

La coartación aórtica es una cardiopatía congénita frecuente en la edad pediátrica cuya detección tardía se asocia con una enfermedad cardiovascular prematura en la edad adulta. Presentamos el caso clínico de una niña de 6 años de edad en la que, a pesar de presentar los tres signos clásicos de la coartación aórtica como son: la hipertensión arterial de las extremidades superiores, la ausencia de palpación de los pulsos femorales y la existencia de un soplo sistólico en borde esternal izquierdo y foco aórtico, no fue diagnosticada hasta esa edad. Se realizó angioplastia percutánea con balón de la coartación y se instauró tratamiento con captopril para el control de la hipertensión. Resaltamos la importancia de medir la presión arterial de forma habitual y la palpación sistemática de los pulsos periféricos en todos los controles de salud, así como la necesidad de incorporar como una determinación más la toma de la presión arterial en brazos y piernas durante al menos un examen físico después del periodo de recién nacido (AU)

Aortic coarctation is a common congenital heart disease in children whose late detection is associated with premature cardiovascular disease in adult life. We present the case report of a 6-year-old girl in whom, despite the presence of the three classical signs of aortic coarctation (arterial hypertension of upper extremities, absence of femoral pulses, and existence of a systolic murmur at left sterna border and aorta), the disease was not diagnosed until that age. Balloon angioplasty was carried out to treat the coarctation, accompanied by captopril therapy to control the hypertension. We stress the importance of routine monitoring of arterial blood pressure and systematic palpation of peripheral pulses in all follow-up examinations. Furthermore, we recommend the determination of blood pressure in arms and legs at least once after the newborn period (AU)

[Contacts of children with tuberculous patients]. / Contactos infantiles de enfermos tuberculosos.

One hundred and nine adults recently diagnosed of active pulmonary tuberculosis (all of them with smear positive sputum) were selected. Their household contacts under fifteen years of age were studied. 73.1 por 100 of the children were tuberculin-positive, and 33.1 por 100 of these "reactors" had developed a pulmonary tuberculosis themselves. The bacillary density in the sputum of the source case was correlated to percentage of infected and ill children among his contacts. Neonatal vaccination with BCG showed a protective effect against the illness in children under eight years of age.

[Pulmonary tuberculosis in infants: apropos of 149 cases]. / Tuberculosis pulmonar en la infancia: a propósito de 149 casos.

One hundred and forty-nine cases of childhood pulmonary tuberculosis were analysed being a 77.6% of the 192 cases of tuberculosis diagnosed at the Pediatric Infectious Diseases Department of "La Paz" Hospital, in a ten year period. The children were aged 3 months to 14 years; 65% of them were less than 6 years of age. The source case was found in 67.1% of the children. The primary means of diagnosis was contact screening (38.1%), followed by a 27.5% that presented with non-specific symptoms, while 18.1% of the cases presented with respiratory symptoms. Gastric aspirates yield the organism in 25.8% of cases. Radiologically the following was found: 38.9% mixed patterns, 32.2% nodal patterns, 23.4% parenchymal patterns, 1.34 miliary tuberculosis, 1.34% caverns and 2.68% pleural effusions. Right lung location was more frequent in parenchymatous forms (68%), as well as in nodal forms (61.5%). The duration of the course of therapy changed along this ten years period: from twelve months initially to ten months posteriorly, subsequently becoming a six month course of treatment. All cases experienced full recovery.