Felipe Heusser R

Comportamiento clínico de los tumores cardíacos desde el feto hasta el adulto: serie multicéntrica de 38 pacientes

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% and 8% of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15%, secondary tumors. Fifty four percent were rhabdomyomas and 75% regressed spontaneously. Seventy seven percent were symptomatic and 31% were treated with surgery. During a follow up of 44+/-35 months, 31% of patients died. In adults, 76% of tumors were diagnosed by transthoracic and 20% by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24% secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84% 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 predominant cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.Multicentric retrospective analysis of 38 children andadults with cardiac tumors, evaluated with echocardiography between January 1995 andAugust 2001. Medical records, echocardiographic and radiological examinations, surgicalprotocols and pathologic examinations were reviewed. Follow-up was obtained through data onmedical records or calling patients by telephone.

Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11

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. (Rev Med Chile 2001; 129: 515-21)

Operación de Fontan: resultados inmediatos y a mediano plazo con anastomosis cavopulmonar total

Background: During the last five years, 65 patients with univentricular heart have been treated surgically in our institution, according to a protocol of staged operations that have been previously reported. Aim: To evaluate the early and mid-term outcome of those patients that have completed their staging protocol by means of a Fontan procedure. Patients and Methods: Between April 1996 and June 2001, 23 patients (age 16 to 223 months) underwent a Fontan procedure, 15 with an intracardiac lateral tunnel technique and 8 with an extracardiac conduit. A retrospective review of their clinical, surgical, echocardiographic, angiographic and hemodynamic data was performed, trying to identify risk factors for both mortality and functional capacity (FC). Follow up was complete in all survivors. Results: Three patients died early after surgery (13.04%). Excessive pulmonary blood flow was a risk factor for early death (p= 0.03). One patient died at 14 months. Follow up was 29.9 months (1-63). For those who survived the operation, five years survival was 93.3%. The majority of patients are in FC I or II, with no related risk factors. Conclusions: Our current results are comparable with those of larger series. Patients reach good FC and mid-term survival, irrespective of type of single ventricle or the surgical strategy (Rev Med Chile 2002; 130: 1217-26).

Cirugía paliativa mediante operación de Norwood en distintas formas de corazón univentricular: resultados quirúrgicos inmediatos

: Norwood procedure is used as the first stage in thepalliative treatment of the hypoplastic heart syndrome and can be used, with some technicalmodifications, in other forms of univentricular heart with aortic stenosis or hypoplasia. Thesepatients have a high mortality (50%), derived from the procedure itself and from their abnor-mal physiological status.

Rol de la evaluación preparticipativa en adolescentes, en el diagnóstico de enfermedades cardiovasculares y prevención de muerte súbita

Promotion of physical activity must be a priority in all modern societies, but there are some persons with medical conditions that can develop serious symptoms associated with sports, that can even be fatal, such as sudden death (SD). Adolescents are the age groups with the higher level of participation in recreation or competitive sports. International studies have demonstrated that approximately 1:250.000 adolescents die during the practice of sports. Of these, 50% had a prodrome 24 hours before the event and 75% had an underlying cardiovascular disease. Therefore, adolescents should be screened for cardiovascular diseases prior to their engagement in sports. This review gives a scientific approach to this issue, usually oversized by mass media. It also analyzes and reports international governmental strategies and practical tools for the clinician that must perform this type of screening.

Experiencia clínica: Quilotórax en cirugía cardiovascular pediátrica

El quilotorax es una complicacion infrecuente de la cirugia cardiovascular (CCV). Los estudios pediatricos son escasos y las cifras de incidencia y mortalidad son variables. En una revision retrospectiva de 314 pacientes postoperados cardiacos identificamos 15 casos de quilotorax. La complicacion se asocio tanto a procedimientos extrapericardicos como intrapericardicos y se manifesto antes de una semana luego de iniciada la alimentacion enteral. En 11/15 pacientes fue suficiente el tratamiento con dieta pobre en grasa; en 3/15 fue necesario emplear nutricion parenteral total. El tratamiento medico fue efectivo en las primeras 2 semanas. Solo un paciente requirio tratamiento quirurgico; este caso presentaba trombosis de vena cava superior. La presencia de quilotorax se asocio a periodos mas prolongados de ventilacion mecanica y de hospitalizacion en la unidad de cuidados intensivos, sin observarse mortalidad. El quilotorax es una complicacion poco frecuente de la CCV y de buen pronostico; la gran mayoria de los casos mejora con tratamiento medico exclusivo. Esta complicacion puede aumentar los costos de la CCV al prolongar los periodos de hospitalizacion en unidades de alta complejidad

Validación del cuestionario de calidad de vida ConQol, en niños chilenos portadores de cardiopatías congénitas

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 another for children aged 12 to 16 years. 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 Cronbachs 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 16 years, 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 of Life and health capability was only significant among children aged 12 to 16 years (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 of Life among 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 another for children aged 12 to 16 years. 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 Cronbachs 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 16 years, 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 of Life and health capability was only significant among children aged 12 to 16 years (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 of Life among Chilean children with congenital heart diseases.

Resonancia magnética en el estudio de cardiopatías congénitas: rol en la evaluación de las estructuras vasculares extracardiacas

En la actualidad la resonancia magnetica ha adquirido cada vez mas importancia en el diagnostico y seguimiento de las cardiopatias congenitas. Entrega informacion anatomica y mas recientemente informacion funcional. Se presenta la experiencia acumulada entre enero y agosto del ano 2002, en cinco casos pediatricos en que la RM cardiaca fue utilizado como metodo complementario a la ecocardiografia y angiografia. En todos los casos aporto informacion anatomica precisa, en especial de la anatomia vascular extracardiaca y fue determinante en la conducta terapeutica. Se discute ademas las caracteristicas de metodo e indicaciones

Cierre transcatéter de ductus arterioso persistente con espirales de Gianturco

Objetivo: evaluar retrospectivamente el rendimiento del cierre del ductus arterioso persistente (DAP) con tecnica transcateter, utilizando espirales (coils) de Gianturco. Pacientes y Metodo: 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 diametro menor, fueron sometidos a esta tecnica de cierre. Bajo sedacion con midazolam y ketamina, se efectuo sondeo cardiaco via arteria y vena femoral derechas, y aortografia. Por medio de un cateter multiproposito se avanzo espiral de Gianturco a traves del ductus desde su extremo aortico hasta posicionarlo en el DAP. Resultados: se logro cierre angiografico ductal en 22 pacientes (100%), observandose minima filtracion residual por ecocardiograma con Doppler color en 3 pacientes (14%), consignandose ausencia de filtracion a los 15 dias en dos de ellos. Todos los pacientes fueron dados de alta a las 24 horas. Cuatro pacientes presentaron embolizacion del espiral, los que fueron recuperados durante el procedimiento. Conclusion: el cierre transcateterismo de DAP con espirales de Gianturco es una tecnica segura y efectiva, constituyendo una muy buena alternativa al cierre quirurgico, con el beneficio adicional de no requerir anestesia general ni toracotomia.

Fármacos de uso pediátrico, QT prolongado y trastornos del ritmo cardíaco

En los ultimos anos se ha observado un progresivo aumento de publicaciones que describen alteraciones del ritmo cardiaco graves, e incluso muerte subita, en pacientes pediatricos que reciben farmacos habituales de la terapeutica pediatrica. Entre los farmacos mencionados destacan cisaprida y otros de uso gastroenterologico, antibioticos macrolidos, antifungicos, antihistaminicos y psicotropicos. Estas complicaciones son poco frecuentes, ocurren en relacion a sobredosis, uso combinado de ellos o en determinadas condiciones de mayor susceptiblidad de los pacientes. Estos farmacos pueden prolongar anormalmente el intervalo QT del electrocardiograma, lo que predispone a arritmias ventriculares graves y a muerte subita. Se revisan algunos de estos farmacos, se describen los mecanismos a traves de los cuales producen estas arritmias y se dan recomendaciones para su uso seguro en pediatria, especialmente en pacientes con mayor susceptibilidad, y asi prevenir esta seria complicacion de la farmacoterapia pediatrica