Validación del cuestionario de calidad de vida ConQol, en niños chilenos portadores de cardiopatías congénitas / Validation of quality of life questionnaire ConQol for Chilean children with congenital heart diseases

Background: ConQoL questionnaire assesses health related quality of life among children with congenital heart diseases. It has a version for children aged 8 to 11 years and anotherfor children aged 12 to 16years. Aim: To validate ConQol questionnaire for Chilean children with a congenital heart disease. Material and Methods: Using a multicentric cross sectional design, 334 children from four hospitals (54% males), were surveyed. Among them 45% were aged 8 to 11 years and 55%, 12 to 16 years. The study involved three stages: cross cultural adjustment of the original questionnaire, pre-test study, and estimation of its psychometric properties. Content, construct and criterion validity and internal consistency with Cronbach's alpha, were assessed. Results: The version for children aged 8 to 11 years and comprised by three domains (symptoms, activity and relationships), obtained and α ≥ 0.60. In the questionnaire for children aged 12 to 16years, there is one more domain called coping, which obtained an α of 0.53, that was different to the other three domains that obtained an α > 0.70. The correlation between Health Quality of Life and Perception of Health Quality of Life was statistically significant for both groups. The association between Health Quality ofLife and health capability was only significant among children aged 12 to 16years (p < 0.01). Conclusions: The adapted ConQol questionnaire matched properly with the original one. The adapted questionnaire is valid and reliable to assess Health Quality ofLife among Chilean children with congenital heart diseases.

Comportamiento clínico de los tumores cardíacos desde el feto hasta el adulto: serie multicéntrica de 38 pacientes / Cardiac tumors in children and adults: A retrospective study

Background: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. Aim: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. Patients and Method: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. Results: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6 percent and 8 percent of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15 percent, secondary tumors. Fifty four percent were rhabdomyomas and 75 percent regressed spontaneously. Seventy seven percent were symptomatic and 31 percent were treated with surgery. During a follow up of 44±35 months, 31 percent of patients died. In adults, 76 percent of tumors were diagnosed by transthoracic and 20 percent by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24 percent secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84 percent were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. Conclusions: Rhabdomyomas were solely found in children. In adults, myxomas are the predominat cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.

Reemplazo valvular mitral y aórtico en niños: resultados durante la última década con prótesis de última generación / Mitral and aortic valve replacement in children: last decade results with latest generation prothesis

Antecedentes: El reemplazo valvular mitral (RVM) y aórtico (RVA) es poco frecuente en pacientes pediátricos y las series publicadas reportan elevada morbi-mortalidad. Objetivo: Evaluar los resultados a mediano plazo en niños sometidos a RVM y RVA durante los últimos diez años, con el fin de determinar morbimortalidad y calidad de vida. Método: Análisis retrospectivo de 26 niños consecutivos (mediana de edad 5,6 años) sometidos a RVM y RVA, entre marzo 1992 y junio 2003. Diecisiete presentaban patología mitral y once aórtica. Resultados: Se realizaron 26 operaciones implantando 28 prótesis (26 mecánicas y 2 biológicas). Tres pacientes (12 por ciento) fallecieron durante el primer mes. La mediana de seguimiento fue de 6,2 años. Tres pacientes con RVM fallecieron alejadamente por causa no atribuible al reemplazo valvular con una sobrevida actuarial de 87 por ciento. Tres pacientes requirieron reoperación. Todos realizan actividades adecuadas a su edad, restringiéndose los deportes de contacto. Conclusión: Los resultados a mediano plazo del reemplazo valvular en niños con valvulopatía grave son satisfactorios.

Cirugía paliativa mediante operación de Norwood en distintas formas de corazón univentricular: resultados quirúrgicos inmediatos / Immediate results of palliative surgery for different forms of univentricular heart using the Norwood procedure

Background: Norwood procedure is used as the first stage in the palliative treatment of the hypoplastic heart syndrome and can be used, with some technical modifications, in other forms of univentricular heart with aortic stenosis or hypoplasia. These patients have a high mortality (50 percent), derived from the procedure itself and from their abnormal physiological status. Aim: To report our experience with the Norwood procedure. Patients and methods: Retrospective analysis of all patients subjected to the Norwood procedure between February 2000 and June 2003. Results: Thirteen patients (9 females, age range 5-60 days and median weight of 3.3 kg) were operated. Eight had hypoplastic heart syndrome and five had a single ventricle with aortic arch hypoplasia. The diagnosis was done in utero in eight patients. All technical variations, according to the disposition and anatomy of the great vessels, are described. Cardiac arrest with profound hypothermia was used in all and regional cerebral perfusion was used in nine. Three patients died in the perioperative period and three died in the follow up (two, four and 10 months after the procedure). Gleen and Fontan procedures were completed in five and one patients, respectively. Conclusions: Our results with the Norwood procedure are similar to other series. There is an important mortality in the immediate operative period and prior to the Glenn procedure (Rev MÚd Chile 2004; 132: 556-63).

Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge / Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome

Background: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus. Aim: To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. Patients and methods: A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immuno-logic data were collected from their initial evaluation. Results: We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patients (p=0.048). Conclusions: We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality (Rev Méd Chile 2004; 132: 26-32).

Cierre transcatéter de ductus arterioso persistente con espirales de Gianturco / Transcatheter ductal closure technique using Gianturco coils

Objetivo: evaluar retrospectivamente el rendimiento del cierre del ductus arterioso persistente (DAP) con técnica transcatéter, utilizando espirales (coils) de Gianturco. Pacientes y Métodos: entre octubre de 1996 y septiembre de 2000, 22 pacientes de peso mayor de 10 kg (10,5 a 59), portadores de DAP de hasta 4 mm en su diámetro menor, fueron sometidos a esta técnica de cierre. Bajo sedación con midazolam y ketamina, se efectuó sondeo cardíaco vía arteria y vena femoral derechas, y aortografía. Por medio de un catéter multipropósito se avanzó espiral de Gianturco a través del ductus desde su extremo aórtico hasta posicionario en el DAP. Resultados: se logró cierre angiográfico ductal en 22 pacientes (100 por ciento), observándose mínima filtración residual por ecocardiograma con Doppier color en 3 pacientes (14 por ciento), consignándose ausencia de filtración a los 15 días en dos de ellos. Todos los pacientes fueron dados de alta a las 24 horas. Cuatro pacientes presentaron embolización del espiral, los que fueron recuperados durante el procedimiento. Conclusión: el cierre transcateterismo de DAP con espirales de Gianturco es una técnica segura y efectiva, contituyendo una muy buena alternativa al cierre quirúrgico, con el beneficio adicional de no requerir anestesia general ni toracotomía

Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11 / Clinical heterogenity of the chromosome 22q11 microdeletion syndrome

Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications

Fármacos de uso pediátrico, QT prolongado y trastornos del ritmo cardíaco / Medications of pediatric use, long QT and cardiac rhythm disturbances

En los últimos años se ha observado un progresivo aumento de publicaciones que describen alteraciones del ritmo cardíaco graves, e incluso muerte súbita, en pacientes pediátricos que reciben fármacos habituales de la terapéutica pediátrica. Entre los fármacos mencionados destacan cisaprida y otros de uso gastroenterológico, antibióticos macrólidos, antifúngicos, antihistamínicos y psicotrópicos. Estas complicaciones son poco frecuentes, ocurren en relación a sobredosis, uso combinado de ellos o en determinadas condiciones de mayor susceptibilidad de los pacientes. Estos fármacos pueden prolongar anormalmente el intervalo QT del electrocardiograma, lo que predispone a arritmias ventriculares graves y a muerte súbita. Se revisan algunos de estos fármacos, se describen los mecanismos a través de los cuales producen estas arritmias y se dan recomendaciones para su uso seguro en pediatría, especialmente en pacientes con mayor susceptibilidad, y así prevenir esta seria complicación de la farmacoterapia pediátrica