[Respiratory infections, Down's syndrome and congenital heart disease: the CIVIC 21 study]. / Infecciones respiratorias, síndrome de Down y cardiopatías congénitas: Estudio CIVIC 21.

INTRODUCTION: We compare hospitalisation rates for acute respiratory tract infection in children younger than 24 months with significant congenital heart disease without Down's syndrome with those with Down's syndrome with or without congenital heart disease. MATERIAL AND METHODS: This was an epidemiological, multicentre (53 Spanish hospitals), observational and prospective study, from October 2006 to April 2007. A total of 1085 patients were followed-up, of which 806 did not have Down's syndrome and 279 with Down's syndrome: 135 with significant, 38 with non significant and 105 without congenital heart disease. RESULTS: A total of 147 patients (13.1%; 95% CI, 11.2-15.2%) required hospitalisation due to respiratory infection. Rates in patients without and with Down's syndrome were 11% vs 19.1%. In the Down's group, 26.3% had no significant, a 23% had significant and 11.4% had no congenital heart disease. The main diagnosis was bronchiolitis (59.4%). An infectious agent was found in 36.2% cases. The specific admission rate due to respiratory syncytial virus was 4.4%, with differences in children without vs with Down's syndrome (3.2% vs 7.8%). In the Down's patients we found rates of 15.8%, 9.3% and 3% in the non-significant, significant and no congenital heart disease. Immunoprophylaxis against respiratory syncytial virus rates were 83.4% vs 39.9% in no Down's versus Down's syndrome patients. No differences were found in hospital stay or the severity. CONCLUSIONS: Hospital admission rates due to respiratory infection, and specifically respiratory syncytial virus, were higher in the Down's patients, particularly in the group with no significant congenital heart disease and low immunoprophylaxis against respiratory syncytial virus.

[Respiratory infections and congenital heart disease: two seasons of the CIVIC study]. / Infecciones respiratorias y cardiopatías congénitas: dos estaciones del estudio CIVIC.

INTRODUCTION: In younger than 24 month with significant congenital heart disease we evaluate the hospitalisation rate for acute respiratory tract infection, the associated risk factors, compliance of preventive measures, aetiology and clinical course. MATERIAL AND METHODS: Ours was an epidemiological, multicentric (53 Spanish hospitals), observational and prospective study, in two seasons from October to April from 2004 to 2006. 1248 patients were follow-up. RESULTS: 167 patients (13.4 %, 95 % CI: 11.6-15.4 %) required 210 hospitalizations for respiratory infection. Significant risk factors were with Odds ratio: Delection 22q11 4.31, sibilances 4.25, incomplete prophylaxis against respiratory syncytial virus 2.10, sibblings less than 11 years old 2.06, trisomy 21 1.89, second season 1.74, prematurity 1.54. Protective factors were: weight over third percentile 0.57, female 0.65 and age in months 0.94. The main diagnosis were bronchiolitis (41.7 %), upper respiratory airway infection (28,1 %) and pneumoniae (17.6 %). An infectious agent was found in 32.5 % cases. Respiratory syncytial virus was the principal agent founded with a 3.4 % specific rate. Median stay was 6 days. In 18.1 % episodes admission in intensive care unit was required. 4 patients (0.32 %) died from respiratory infection. CONCLUSIONS: We found 13.4 % in hospital admissions for respiratory infection. Significant risk factors are mainly associated (syndromes, malnutrition, siblings, incomplete respiratory syncytial virus prophylaxis). Bronchiolitis and respiratory syncytial virus was the most common clinical picture and identified infectious agent. In some cases they are morbidity and mortality.

[Holt-Oram syndrome: characterization of a novel mutation]. / Síndrome de Holt-Oram: caracterización de una nueva mutación.

INTRODUCTION: Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. PATIENTS AND METHODS: The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. RESULTS: Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. CONCLUSIONS: Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome.

Miocardiopatías y trasplante cardíaco / Cardiomyopathies and heart transplants

Se ha publicado un nuevo documento de consenso de la American Heart Association (AJHA) que define las miocardiopatías como el conjunto de enfermedades del miocardio asociadas a alteración mecánica y/o eléctrica del corazón que normalmente se acompaña de hipertrofía o dilatación secundaria a una serie de causas frecuentemente genéticas. Este nuevo documento hace un enfoque etiológico clasificándolas en primarias (con afectación fundamentalmente del corazón) y secundarias a enfermedades sistémicas. Las primarias se clasifican según su etiología en genéticas, adquiridas y mixtas. A efectos prácticos-didácticos se sigue hablando de miocardiopatías hipertrófica, dilatada o restrictiva. Se exponen su clínica, los estudios complementarios necesarios para su diagnóstico y los tratamientos médicos y quirúrgicos, con especial referencia a las indicaciones del trasplante cardíaco (AU)

A new consensus document of the AHA has been recetly published and it defines cardiomyopathies as a group of diseases of the myocardium that causes mechanic or electrical dysfuntion. They are usually associated with hypertrophy or dilatation and are more often secondary to different causes, frequently of genetic origin. This new document addfresses an etiological approach and classifies diseases as primary (involvement of the heart) and secondary to systemic diseases. Primary cardiomyopathies are further classified as genetic, acquired or mixed. Symptoms, complementary studies for diagnosis and medical and surgical treatments are explained, with special reference to the indications of heart transplantation (AU)

Infecciones respiratorias, síndrome de Down y cardiopatías congénitas: Estudio CIVIC 21 / Respiratory infections, Down's syndrome and congenital heart disease: The CIVIC 21 study

Introducción: Se comparan las tasas de hospitalización por infección respiratoria aguda en niños con cardiopatías congénitas significativas sin síndrome de Down y en niños con síndrome de Down, con y sin cardiopatías, menores de 24 meses. Material y métodos: Estudio epidemiológico, multicéntrico (53 hospitales), observacional y prospectivo, de octubre de 2006 a abril de 2007. Se siguió a 1.085 pacientes; 806 sin síndrome de Down y con cardiopatía significativa y 279 con síndrome de Down: 135 con cardiopatía significativa, 38 con cardiopatías leves y 105 sin cardiopatía. Resultados: Ingresaron 147 (13,1%) pacientes (intervalo de confianza del 95%, 11,2 15,2%) por infecciones respiratorias. Las tasas en niños sin y con síndrome de Down fueron del 11 frente al 19,1%. Entre los últimos, el 26,3%, con cardiopatías no significativas; el 23%, con cardiopatías significativas, y el 11,4%, sin cardiopatía. El diagnóstico principal (59,4%) fue bronquiolitis. Se identificó algún germen en el 36,2%. La tasa de ingreso específica por virus respiratorio sincitial fue del 4,4%, con diferencias entre los niños sin y con síndrome de Down (el 3,2 frente al 7,8%) y entre los grupos con síndrome de Down con cardiopatías no significativas (15,8%), cardiopatías significativas (9,3%) y sin cardiopatía (3%). Había recibido profilaxis contra el virus respiratorio sincitial el 83,4 frente al 39,9% de los niños sin y con síndrome de Down. No hubo diferencias en el tiempo ni en la gravedad de las estancias. Conclusiones: Las hospitalizaciones por infecciones respiratorias y específicamente por virus respiratorio sincitial predominan en los niños con síndrome de Down, y entre ellos, en los que tienen cardiopatías leves y escasa inmunoprofilaxis frente al virus respiratorio sincitial (AU)

Introduction: We compare hospitalisation rates for acute respiratory tract infection in children youngerth an 24 months with significant congenital heart disease without Down’s syndrome with those with Down’s syndrome with or without congenital heart disease. Material and methods: This was an epidemiological, multicentre (53 Spanish hospitals), observation al and prospective study, from October 2006 to April 2007. A total of 1085 patients were followed-up, of which 806 did not have Down’s syndrome and 279 with Down’s syndrome: 135 with significant, 38 with non significant and 105 without congenital heart disease. Results: A total of 147 patients (13.1%; 95% CI, 11.2–15.2%) required hospitalisation due to respiratory infection. Rates in patients without and with Down’s syndrome were 11% vs 19.1%. In the Down’s group, 26.3%had no significant, a 23% had significant and 11.4% had no congenital heart disease. The main diagnosis was bronchiolitis (59.4%). An infectious agent was found in 36.2% cases. The specificad mission rate due to respiratory syncytial virus was 4.4%, with differences in children without vs with Down’s syndrome (3.2% vs 7.8%). In the Down’s patients we found rates of 15.8%, 9.3% and 3% in the non-significant, significant and no congenital heart disease. Immunoprophylaxis against respiratory syncytial virus rates were 83.4%vs 39.9%in no Down’s versus Down’s syndrome patients. No differences were found in hospital stay or the severity. Conclusions: Hospital admission rates due to respiratory infection, and specifically respiratory syncytial virus, were higher in the Down’s patients, particularly in the group with no significant congenital heart disease and low immunoprophylaxis against respiratory syncytial virus (AU)

Síndrome de Holt-Oram: caracterización de una nueva mutación / Holt-Oram syndrome: characterization of a novel mutation

Introducción Los síndromes cardiomiélicos comprenden cardiopatías congénitas y malformaciones esqueléticas de los miembros superiores, y están relacionados con mutaciones deletéreas de factores de transcripción con dominios del tipo T-Box. El síndrome de Holt-Oram se debe a una mutación dominante en el gen TBX5 que altera la estructura tridimensional de la proteína impidiendo su correcta unión al ADN. Se han descrito varias mutaciones puntuales y deleciones de TBX5 en pacientes con fenotipo de síndrome de Holt-Oram. Pacientes y métodos El paciente es un niño con una comunicación interauricular (CIA) del tipo ostium secundum grande y una comunicación interventricular (CIV) diagnosticados por clínica (soplo) y ecocardiografía. Presenta además unos dedos pulgares algo hipoplásicos y con un emplazamiento distal bilateral, con un índice de implantación de 0,19 frente a una media normal de 0,50 para su edad gestacional al nacer. Es remitido a la consulta de Genética para descartar microdeleción 22q11.2. Resultados El cariotipo y la hibridación in situ de fluorescencia (FISH) con sonda D22S75 resultaron normales y debido a los hallazgos clínicos se realizó un estudio molecular para el síndrome de Holt-Oram. Se encontró una mutación en el intrón 7 de TBX5 que produce una probable alteración del splicing del gen que da lugar a una proteína truncada en su extremo C-terminal. Los padres del propósito presentan una secuencia normal para el gen, lo que indica que la mutación se produjo de novo, sin que pueda descartarse un mosaicismo germinal en los padres. Conclusiones El síndrome de Holt-Oram es la causa más frecuente de síndrome cardiomiélico. Debería ser objeto de estudio molecular todo niño con malformaciones cardíacas y alteraciones de las extremidades superiores como pulgares ausentes, hipoplásicos, distalmente emplazados o trifalángicos

Introduction Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene that alters the three-dimensional structure of the protein and its DNA binding function. Several point mutations and deletions in TBX5 have been reported in patients with the Holt-Oram syndrome phenotype. Patients and methods The proband was a boy with a large atrial septal defect ostium secundum type and a ventricular septal defect, diagnosed by clinical findings (heart murmur) and echocardiography. He also presented slightly hypoplastic thumbs with distal bilateral placement and an implantation index of 0.19 (compared with an average of 0.50 for his gestational age at birth). The boy was referred to the department of medical genetics to rule out 22q11.2 microdeletion syndrome. Results Karyotype and fluorescence in situ hybridization at locus D22S75 were both normal. Because of his clinical findings, molecular study for Holt-Oram syndrome was indicated, leading to the finding of a mutation at intron 7 of TBX5, probably producing a splicing alteration of the gene and resulting in a protein truncated at its C-terminal end. The proband's parents presented the wild type sequence of the gene, thus indicating that the mutation was produced de novo, although a possible germinal mosaicism in the parents could not be ruled out. Conclusions Holt-Oram syndrome is the most frequent cause of cardiomyelic syndrome. All children with heart malformations and abnormalities of the upper limbs such as absent, hypoplastic, distally placed or triphalangic thumbs should undergo molecular studies for this syndrome

Masa intracardíaca en paciente con atresia pulmonar y defecto septal ventricular / Intracardiac mass in a patient with pulmonary atresia and ventricular septal defect

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