Novedades en cardiología pediátrica, cardiopatías congénitas del adulto y cirugía cardiaca de cardiopatías congénitas

doi:10.1016/S0300-8932(10)70138-X

Revista Española de Cardiología

Volume 63, Supplement 1, 2010, Pages 29-39

https://doi.org/10.1016/S0300-8932(10)70138-X Get rights and content

La cardiología pediátrica es una disciplina en continua evolución, que abarca no sólo las cardiopatías congénitas y adquiridas en la infancia, sino también al adulto afecto de cardiopatías congénitas y el diagnóstico y la prevención de las cardiopatías en la época prenatal. Destacamos novedades en el campo de la genética y resaltamos algunos artículos de diagnóstico por resonancia magnética o tomografía multicorte, así como nuevas publicaciones en el campo de la electrofisiología y en el tratamiento quirúrgico en el niño y en el adulto con cardiopatía congénita. También abordamos el campo cada vez más avanzado de la asistencia ventricular mecánica como puente al trasplante en niños.

The field of pediatric cardiology is continually developing and now covers not only congenital and acquired heart disease in children but also congenital heart disease in adults and the prenatal diagnosis and prevention of heart disease. This review highlights new findings in the field of genetics, selected articles on the use of magnetic resonance imaging and multislice CT in diagnosis, and recent publications on electrophysiology and the surgical treatment of children and adults with congenital heart disease. In addition, the increasingly advanced use of mechanical assist devices as a bridge to heart transplantation in children is also discussed.

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Cited by (7)

Palliative arterial switch as first-line treatment before the Fontan procedure in patients with single-ventricle physiology and subaortic stenosis
2013, Revista Espanola de Cardiologia
Para la paliación inicial de pacientes con fisiología univentricular, discordancia ventriculoarterial y estenosis subaórtica, se utilizan diversas técnicas. La cirugía tipo Fontan depende de una correcta paliación inicial que evite la aparición de estenosis subaórtica (además de hipertrofia ventricular y disfunción diastólica).
Presentamos a 7 pacientes con fisiología univentricular, transposición y estenosis subaórtica, con bajo gasto sistémico e hiperaflujo pulmonar, de 21–383 (mediana, 75) días de edad y 3,4–9,6 (mediana, 4,2) kg de peso. Todos fueron tratados mediante switch arterial paliativo, «cambiando» su estenosis subaórtica por una estenosis subpulmonar. En 6 casos se asoció cirugía de arco aórtico; en 4, septectomía auricular y en 1, resección de membrana subaórtica.
Un paciente falleció en el postoperatorio; otro sufrió recoartación, tratada mediante angioplastia; 3 pacientes han alcanzado el estadio de Glenn y 2, el de Fontan. La función ventricular es correcta en todos ellos.
La fisiología de ventrículo único con transposición y estenosis subaórtica se puede tratar inicialmente mediante un switch paliativo. Esta compleja técnica inicial presenta buenos resultados y permite la progresión futura hacia Glenn y Fontan.
There are several techniques for the palliative treatment of patients with single-ventricle physiology, ventriculoarterial discordance and subaortic stenosis. The Fontan procedure relies on optimal initial palliation to avoid the development of subaortic stenosis (as well as ventricular hypertrophy and diastolic dysfunction).
We present seven patients with single-ventricle physiology, transposition of the great arteries and subaortic stenosis, with low systemic output and high pulmonary flow, aged 21 to 383 days (median, 75) and weighing between 3.4 and 9.6 kg (median, 4.2). All were treated with a palliative arterial switch, thus «switching» their subaortic stenosis to subpulmonary stenosis. Six patients also underwent aortic arch surgery, 4 an atrial septectomy, and 1 a subaortic membrane resection.
One patient died after surgery, another developed recoarctation, which was treated with an angioplasty, 3 patients reached the Glenn stage and 2 the Fontan stage. All had good ventricular function.
A palliative switch is an effective initial treatment for single-ventricle physiology with transposition of the great arteries and subaortic stenosis. This complex initial technique produces good results and allows the patient to progress to the Glenn or Fontan stage.
Full English text available from: www.revespcardiol.org/en
Alterations in RAS-MAPK genes in 200 Spanish patients with noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy
2012, Revista Espanola de Cardiologia
La caracterización molecular de cardiopatías incluye una entidad congénita no infrecuente, el síndrome de Noonan. Presentamos el estudio de seis genes de la vía RAS-MAPK en pacientes españoles: perfil genotípico, impacto de la cardiopatía y expresividad clínica.
Compusieron la población en estudio 643 pacientes (y 182 familiares) diagnosticados por dismorfólogos, cardiólogos y endocrinopediatras de 74 hospitales (11 comunidades). Estudio primario de PTPN11 y complementario de SOS1, RAF1, BRAF, KRAS y HRAS, estratificado y orientado por signos clínicos, mediante secuenciación de exones recurrentes (un 80-95% de mutaciones descritas).
Se documentó mutación en 230 pacientes (91 mujeres, 139 varones) de 200 familias (31%), 172 PTPN11 +, 14 SOS1 +, 9 RAF1 + y 5 BRAF +, con referencia explícita a la cardiopatía padecida en 156 casos índice; 103 presentaban estenosis de la válvula pulmonar; 12, estenosis de la válvula pulmonar y miocardiopatía hipertrófica; 18, miocardiopatía hipertrófica y 14, otra cardiopatía; en sólo 9 casos se encontraba ausente. En 23/30 familiares positivos no había o no constaba cardiopatía. El rendimiento diagnóstico fue superior (p = 0,016) para las muestras de algunos centros (53%; 14/32), y alcanzó el 64% (9/14; p = 0,019) en profesionales concretos. El rendimiento cayó al 18% en los pacientes sin datos clínicos facilitados. El dato genotípico reorientó el diagnóstico clínico en 26 pacientes.
El 94% de los pacientes portadores de mutación presentaban cardiopatía, el 79% estenosis de la válvula pulmonar y el 12% miocardiopatía hipertrófica. En el 76% de los familiares positivos con rasgos clínicos compatibles, no se había documentado la cardiopatía. El estudio molecular es una herramienta útil en estos síndromes, aunque debe progresarse en la objetivación del diagnóstico clínico.
Molecular characterization of congenital heart diseases now includes the not infrequent dysmorphic Noonan syndrome. A study of 6 genes of the RAS-MAPK pathway in Spanish patients is presented: the impact of heart disease, clinical expressivity, and diagnostic yield are investigated.
The study included 643 patients (and 182 family members) diagnosed by dysmorphologists, cardiologists, and pediatric endocrinologists from 74 tertiary hospitals. Bidirectional sequencing analysis of PTPN11, SOS1, RAF1, BRAF, KRAS and HRAS focused on exons carrying recurrent mutations accounting for 80% to 95% of previously described mutations.
Mutations were detected in 230 patients (91 women and 139 men) in 200 (31%) families (172 PTPN11+, 14 SOS1+, 9 RAF1+, 5 BRAF+). There was specific reference to the heart defect suffered in 156 index cases: 103 patients had shown pulmonary stenosis, 12 pulmonary stenosis with hyperthrophic cardiomyopathy, 18 hypertrophic cardiomiopathy, and 14 other cardiopathies; heart disease was absent in 9 index cases. Heart disease had not been documented in 23 of 30 family members with positive genotype and compatible clinical signs. Diagnostic yield was higher (P=.016) for samples from some centers (53%; 14/32) and even from certain professionals (64%; 9/14; P=.019). Characterization rate was 18% in patients for whom clinical data were not available. Genotyping led to a more precise diagnosis in 26 patients.
Most patients (94%) with a positive genotype had known congenital heart disease, 79% pulmonary stenosis and 12% hyperthrophic cardiomyopathy. Cardiopathy had not been documented in 76% of family members carrying the mutation. Molecular study is a useful tool in these syndromes but a more rigorous clinical diagnosis should be intended as well.
Full English text available from: www.revespcardiol.org
Fontan operation. Hemodynamic factors associated with postoperative outcomes
2012, Revista Espanola de Cardiologia
Los pacientes con corazón univentricular son sometidos a una serie de intervenciones paliativas que culminan en la operación de Fontan. El objetivo de este trabajo es revisar las características clínicas y hemodinámicas de un grupo de pacientes con fisiología univentricular paliados previamente con operación de Glenn bidireccional e identificar los factores de riesgo que influyen en la evolución postoperatoria de la cirugía de Fontan.
Estudio retrospectivo de 32 pacientes sometidos a cirugía de Fontan entre marzo de 2000 y diciembre de 2009. Se revisaron las características clínicas, los datos derivados del cateterismo, el tipo de cirugía y los tiempos quirúrgicos y se buscó su relación con la evolución postoperatoria.
La mortalidad hospitalaria fue del 3%. Tras una mediana [intervalo intercuartílico] de seguimiento de 44 meses [32-79], la supervivencia es del 90%. La presión media en arteria pulmonar medida en el cateterismo se relacionó con la mortalidad tardía. De las demás variables estudiadas, las que mejor se relacionaron con la evolución postoperatoria fueron los índices de Nakata y McGoon y el tiempo de circulación extracorpórea. En el 42% de los pacientes se realizó cateterismo intervencionista previo a la operación de Fontan.
Realizamos la operación de Fontan con muy baja mortalidad hospitalaria. El cateterismo previo a la operación de Fontan permite seleccionar a los pacientes de alto riesgo para la cirugía así como realizar procedimientos intervencionistas que podrían mejorar la evolución postoperatoria.
The Fontan operation is usually the final palliative procedure in patients with univentricular heart. The objectives of this study were, firstly, to describe the clinical and haemodynamic characteristics of a group of patients with univentricular physiology who had previously been palliated with a bidirectional Glenn procedure and, secondly, to identify risk factors that can influence postoperative outcomes after the Fontan operation.
Retrospective study with 32 patients who underwent a Fontan operation between March 2000 and December 2009. Clinical characteristics, catheterization data, type and duration of surgery were revised and analyzed as predictors of postoperative outcome.
Hospital mortality was 3%. After a median follow-up of 44 months (interquartile range, 32-79), survival was 90%. Preoperative mean pulmonary artery pressure (measured during catheterization) was correlated with late mortality. Of the remaining variables analyzed, the Nakata and McGoon indices, and duration of cardiopulmonary bypass showed the highest correlations with postoperative outcomes. Interventional catheterization before the Fontan operation was performed in 42% of patients.
Hospital mortality after the Fontan operation was very low. The performance of a haemodynamic study before the Fontan operation made it possible to select high-risk patients for surgery as well as permitting the performance of interventional procedures that could improve postoperative outcome in these patients.
Full English text available from: www.revespcardiol.org
The Spanish version of the health-related quality of life questionnaire for children and adolescents with heart disease (PedsQL™)
2012, Revista Espanola de Cardiologia
Adaptar al español el cuestionario de calidad de vida Pediatric Quality of Life Inventory (PedsQL^TM) (Módulo General y Módulo Cardiaco, versión 3.0).
Metodología de traducción directa e inversa. La entrevista cognitiva se utilizó para probar la versión previa al test. Se realizó la evaluación de las propiedades psicométricas de la versión española.
La nueva versión contiene algunos cambios de formato con intención de facilitar la lectura de los enunciados y la comprensión de las instrucciones de respuesta (versión para niños de 5-7 años). Se identificaron algunos problemas de «descontextualización» en relación con el desarrollo evolutivo de los niños en las versiones para los niños más pequeños y sus padres (2-4 y 5-7 años). El porcentaje de ítems sin respuesta osciló entre 0 y el 5,9%. Se encontraron efectos techo elevados, especialmente en el Módulo Cardiaco, donde osciló en un 19-48,6%. La consistencia interna fue > 0,7, excepto en la dimensión de Apariencia Física y Funcionamiento Escolar en los niños. Los grados de acuerdo entre la información dada por los niños y la dada por los padres fueron en general muy altos. Se observó una tendencia de descenso de las puntuaciones en todas las escalas en relación con la gravedad de la cardiopatía, pero sólo en algunas dimensiones las diferencias fueron estadísticamente significativas.
La versión española del PedsQL^TM presenta algunas diferencias con la versión original, concretamente con las dimensiones de Funcionamiento Escolar y Apariencia Física, como se observó en las entrevistas cognitivas. Por otro lado, no se ha demostrado que tenga validez predictiva.
To adapt the Pediatric Quality of Life Inventory (PedsQL^TM) (General Module and Cardiac Module, 3.0 version) into Spanish.
Forward and back translation methodology. Cognitive interviewing was used to check the pre-test version. Psychometric properties were computed for the PedsQL^TM Cardiac Module Scales. Cross-informant variance between children and parents was assessed.
The Spanish version has some format changes to make it easier to read and to clarify response choices (version for 5-7 years age group). Some semantically complex terms were replaced with synonyms and others illustrated with examples. Some “out of context” problems were identified with respect to some items (version for children 2-4 and 5-7 years). The percentage of missing item responses ranged from 0% to 5.9%. A high ceiling effect was found, especially in the Cardiac Module, which ranged from 19% to 48.6%. Internal consistency was higher than 0.7, except for Physical Appearance Scale and School Functioning in children. Agreement between information given by children and parents was generally very high. A decreasing trend in scores on all scales was observed in relation to the severity of heart disease, but the differences were only statistically significant in some dimensions.
The Spanish version of the PedsQL^TM differs somewhat from the original version, particularly on the School Functioning and Physical Appearance Scales, as observed in cognitive interviews. Predictive validity was not demonstrated.
Full English text available from: www.revespcardiol.org
Annual summary 2010: Bibliometric data, activities, and new production of the journal
2010, Revista Espanola de Cardiologia
Quality of life of children and adults following cardiac surgery for congenital heart disease: A mexican cohort
2021, Archivos de Cardiologia de Mexico

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Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries

Ultrasound Obstet Gynecol

Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome

BJOG

Prenatal detection of congenital heart disease

J Pediatr

Effectiveness of prenatal diagnosis of congenital heart defects in South Australia: a population analysis 1999-2003

Aust N Z J Obstet Gynaecol

Pulse oximetry screening as a complementary strategy to detect critical congenital heart defects

Acta Paediatr

AHA and AAP Section on Cardiology and Cardiac Surgery, and Committee on Fetus and Newborn Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the AHA and AAP

Circulation

AHA Congenital Cardiac Defects C.ommittee, Council on Cardiovascular Disease in the Young. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the AHA Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young

Circulation

The developmental genetics of congenital heart disease

Nature

Temas de actualidad en cardiología 2009
Novedades en cardiología pediátrica, cardiopatías congénitas del adulto y cirugía cardiaca de cardiopatías congénitasProgress in Pediatric Cardiology, Congenital Heart Disease in Adults, and Heart Surgery for Congenital Heart Disease