Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

Rinitis alérgica en pediatría: recomendaciones para su diagnóstico y tratamiento / Allergic rhinitis in pediatrics: recommendations for diagnosis and treatment

La rinitis alérgica (RA) es una de las enfermedades crónicas más frecuentes de la infancia. Sin embargo, permanece subdiagnosticada y subtratada. Su prevalencia ha aumentado en los últimos años y varía del 2 % al 25 %. Los síntomas de la RA incluyen estornudos, prurito, rinorrea y congestión nasal. Un correcto diagnóstico y tratamiento de la RA y sus comorbilidades, tales como rinosinusitis con o sin poliposis nasal, conjuntivitis, otitis media, asma bronquial e infecciones del tracto respiratorio, son importantes para reducir el impacto negativo en la afectación de la calidad de vida del paciente y sus familiares, y los gastos sanitarios que ocasiona. La inmunoterapia alérgeno específica, en pacientes correctamente seleccionados, previene nuevas sensibilizaciones y reduce la hiperreactividad bronquial asociada a la RA. Considerando todos estos factores, el Comité Nacional de Alergia de la Sociedad Argentina de Pediatría propone recomendaciones basadas en la evidencia actual.

Allergic rhinitis (AR) is one of the most common chronic diseases in children. However, it remains underdiagnosed and undertreated. Its prevalence has increased in recent years and varies from 2 to 25 %. Symptoms include sneezing, itching, runny nose, and nasal congestion. A correct diagnosis and treatment of AR and its comorbidities such as rhinosinusitis with or without nasal polyposis, conjunctivitis, otitis media, bronchial asthma and respiratory tract infections, are important to reduce the negative impact on the quality of life of the patient and their relatives, and in medical costs. Specific allergen immunotherapy, in correctly selected patients, prevents new sensitizations and reduces bronchial hyperreactivity associated with AR. Taking into account all these reasons, the National Allergy Committee of the Sociedad Argentina de Pediatría proposes current evidence based recommendations

[Allergic rhinitis in pediatrics: recommendations for diagnosis and treatment]. / Rinitis alérgica en pediatría: recomendaciones para su diagnóstico y tratamiento.

Allergic rhinitis (AR) is one of the most common chronic diseases in children. However, it remains underdiagnosed and undertreated. Its prevalence has increased in recent years and varies from 2 to 25 %. Symptoms include sneezing, itching, runny nose, and nasal congestion. A correct diagnosis and treatment of AR and its comorbidities such as rhinosinusitis with or without nasal polyposis, conjunctivitis, otitis media, bronchial asthma and respiratory tract infections, are important to reduce the negative impact on the quality of life of the patient and their relatives, and in medical costs. Specific allergen immunotherapy, in correctly selected patients, prevents new sensitizations and reduces bronchial hyperreactivity associated with AR. Taking into account all these reasons, the National Allergy Committee of the Sociedad Argentina de Pediatría proposes current evidence based recommendations.

La rinitis alérgica (RA) es una de las enfermedades crónicas más frecuentes de la infancia. Sin embargo, permanece subdiagnosticada y subtratada. Su prevalencia ha aumentado en los últimos años y varía del 2 % al 25 %. Los síntomas de la RA incluyen estornudos, prurito, rinorrea y congestión nasal. Un correcto diagnóstico y tratamiento de la RA y sus comorbilidades, tales como rinosinusitis con o sin poliposis nasal, conjuntivitis, otitis media, asma bronquial e infecciones del tracto respiratorio, son importantes para reducir el impacto negativo en la afectación de la calidad de vida del paciente y sus familiares, y los gastos sanitarios que ocasiona. La inmunoterapia alérgeno específica, en pacientes correctamente seleccionados, previene nuevas sensibilizaciones y reduce la hiperreactividad bronquial asociada a la RA. Considerando todos estos factores, el Comité Nacional de Alergia de la Sociedad Argentina de Pediatría propone recomendaciones basadas en la evidencia actual.

Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad / Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert.

[Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity]. / Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert..

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

Characteristics and Outcomes of Cases of Children and Adolescents With Pediatric Inflammatory Multisystem Syndrome in a Tertiary Care Center in Mexico City.

Background: Pediatric inflammatory multisystem syndrome (PIMS) is a complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children that resembles Kawasaki syndrome and places them at high risk of cardiorespiratory instability and/or cardiac damage. This study aims to describe the clinical presentation and outcomes of patients with PIMS in Mexico City. Methods: This was an observational study of children hospitalized for PIMS based on the Centers for Disease Control and Prevention case definition criteria, in a single tertiary care pediatric center in Mexico City between May 1, 2020, and September 30, 2021. Demographic characteristics, epidemiological data, medical history, laboratory tests, cardiologic evaluations, treatment, and clinical outcomes were analyzed. Results: Seventy-five cases fulfilled the case definition criteria for PIMS [median age: 10.9 years, Interquartile range (IQR): 5.6-15.6]. Fifteen (20%) patients had a severe underlying disease, 48 (64%) were admitted to the intensive care unit, 33 (44%) required invasive mechanical ventilation and 39 (52%) received vasopressor support. The patients were clustered through latent class analysis based on identified symptoms: Cluster 1 had rash or gastrointestinal symptoms (n = 60) and cluster 2 were those with predominantly respiratory manifestations (n = 15). Two patients (2.7%) died, and both had severe underlying conditions. Five patients (6.7%), all from cluster 1, developed coronary aneurysms. Conclusion: There were a high proportion of patients with severe respiratory involvement and positive RT-PCR SARS-CoV-2 and very few cases of coronary aneurysms in our study which suggests that a high proportion of the children had severe acute COVID-19. The clinical manifestations and outcomes are comparable to previously reported international studies.

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.

Implementation of diagnostic screening for congenital heart disease in Hidalgo, Mexico / Implementación del tamizaje diagnóstico de cardiopatías congénitas en Hidalgo, México

Abstract Objective: Implementing screening through pulse oximetry (PO) and a knowledge management model (KMM) for early detection of life-threatening congenital heart disease (CHD) in the neonatal period. Material and methods: Pilot study of PO implementation supported by clinical criteria performed in newborns at two public hospitals of Hidalgo State. Those who tested positive were referred for echocardiography and those diagnosed with critical CHD (CCHD) were referred to specialized hospitals for treatment. Results: 1748 newborns were screened: 29 positive, 62% with CHD and 13.8% with CCHD, one death, three referrals to palliative treatment. Conclusion: PO as a method of screening helps in early diagnosis of CHD added to clinical and echocardiography studies. KMM fosters innovation and resource management.

Resumen Objetivo: Implementar el tamizaje mediante la oximetría de pulso (OP) y un modelo de gestión del conocimiento (MGC) para la detección oportuna de cardiopatías congénitas (CC) que amenazan la vida en el período neonatal. Material y métodos: Estudio piloto de implementación de OP apoyado en criterios clínicos, realizado en recién nacidos (RN) de dos hospitales públicos de Hidalgo. Los pacientes que resultaron positivos fueron objeto de ecocardiografía (EC) y los diagnosticados con cardiopatías congénitas críticas (CCC) se refirieron a tratamiento. Resultados: Se tamizó a 1,748 RN (29 positivos), CC en 62% y CCC en 13.8 %, 1 muerte y 3 programados para operación paliativa. Conclusiones: La OP ayuda en el diagnóstico de CC en combinación con criterios clínicos y EC. Un MGC favorece la innovación y la gestión de recursos.

Alergia e intolerancia a antiinflamatorios no esteroideos en pediatría / Allergy and intolerance to nonsteroidal anti-inflammatory drugs in children

Los antiinflamatorios no esteroideos son ampliamente recetados en niños. Constituyen la segunda causa de reacciones a medicamentos en pediatría después de los antibióticos betalactámicos; sin embargo, solo una parte de estas son reacciones de hipersensibilidad. La prevalencia de dichas reacciones a antiinflamatorios no esteroideos en niños es del 0,3 % y aumenta al 5 % en asmáticos.Los mecanismos fisiopatológicos involucrados (inhibición de la ciclooxigenasa, hipersensibilidad mediada por inmunoglobulina E, linfocitos T reactivos y/o afectación de la inmunidad innata) darán lugar a diferentes entidades clínicas con sintomatología dispar.La confusión con síntomas propios de procesos virales y la variabilidad clínica hacen del diagnóstico de certeza un verdadero desafío. Una historia clínica detallada, análisis de laboratorio, pruebas cutáneas y de provocación controlada permitirán definir estrategias para cada paciente en particular sin etiquetar como alérgico a un niño que no lo es ni exponer a riesgos innecesarios a quien está sensibilizado.

Nonsteroidal anti-inflammatory drugs are widely prescribed in children. They are the second cause of drug ́s reactions in pediatrics after beta-lactam antibiotics, however only a part of them are hypersensitivity reactions. The prevalence of these reactions to nonsteroidal anti-inflammatory drugs in children is 0.3 %, increasing to 5 % in asthmatics.The different physiopathological mechanisms involved (inhibition of cyclooxygenase, immunoglobulin E-mediated hypersensitivity, reactive T lymphocytes and/or disturbance of innate immunity) will cause different clinical entities with diverse symptoms.The confusion between the common symptoms of a viral infection and a hypersensitivity reaction, and the variability of the clinical presentations make diagnosis a real challenge.A detailed clinical history, laboratory, skin and controlled provocation tests will provide strategies for each patient, without labeling a child who is not an allergic one, or taking unnecessary risks with those who are sensitized.

Implementation of diagnostic screening for congenital heart disease in Hidalgo, Mexico.

Objective: Implementing screening through pulse oximetry (PO) and a knowledge management model (KMM) for early detection of life-threatening congenital heart disease (CHD) in the neonatal period. Material and methods: Pilot study of PO implementation supported by clinical criteria performed in newborns at two public hospitals of Hidalgo State. Those who tested positive were referred for echocardiography and those diagnosed with critical CHD (CCHD) were referred to specialized hospitals for treatment. Results: 1748 newborns were screened: 29 positive, 62% with CHD and 13.8% with CCHD, one death, three referrals to palliative treatment. Conclusion: PO as a method of screening helps in early diagnosis of CHD added to clinical and echocardiography studies. KMM fosters innovation and resource management.

Objetivo: Implementar el tamizaje mediante la oximetría de pulso (OP) y un modelo de gestión del conocimiento (MGC) para la detección oportuna de cardiopatías congénitas (CC) que amenazan la vida en el período neonatal. Material y métodos: Estudio piloto de implementación de OP apoyado en criterios clínicos, realizado en recién nacidos (RN) de dos hospitales públicos de Hidalgo. Los pacientes que resultaron positivos fueron objeto de ecocardiografía (EC) y los diagnosticados con cardiopatías congénitas críticas (CCC) se refirieron a tratamiento. Resultados: Se tamizó a 1,748 RN (29 positivos), CC en 62% y CCC en 13.8 %, 1 muerte y 3 programados para operación paliativa. Conclusiones: La OP ayuda en el diagnóstico de CC en combinación con criterios clínicos y EC. Un MGC favorece la innovación y la gestión de recursos.

CASO CLÍNICO: INTOLERANCIA A ANTIINFLAMATORIOS NO ESTEROIDES (AINES): INCLUIDO PARACETAMOL

Se presentan dos pacientes con urticaria y angioedema inducidos por reacción cruzada a AINES, incluido el Paracetamol. Los autores realizan una descripción diagnóstica y propuesta terapéutica.

Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez / Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico

Resumen Objetivo: Determinar la prevalencia y espectro de las enfermedades que predisponen la muerte súbita cardiaca en niños mexicanos e identificar los principales signos y síntomas tempranos que pueden permitir al personal de salud sospechar acerca de estas enfermedades y referir a los pacientes a un hospital de tercer nivel de manera temprana. Métodos: La incidencia, prevalencia y prevalencia de periodo, así como los primeros síntomas, los datos clínicos y el seguimiento, se describen en todos los niños con enfermedades que predisponen a la muerte súbita cardiaca en el Hospital Infantil de México. Resultados: Cincuenta y nueve pacientes de 8 ± 5 años, 40 con miocardiopatías y 19 con enfermedades arritmogénicas hereditarias. La prevalencia del periodo fue de 9.5/1,000 pacientes/año. Los primeros síntomas más comunes fueron disnea, palpitaciones y síncope. En 9 casos se encontró un patrón de herencia mendeliana. Tres pacientes fallecieron de muerte súbita cardiaca durante el periodo de estudio. Conclusión: Las enfermedades que predisponen a la muerte súbita cardiaca en los niños no son muy conocidas por la comunidad médica y general. Todo niño con disnea, palpitaciones y/o síncope debe referirse para la búsqueda intensiva de estas enfermedades. Una evaluación cardiológica completa en todos los miembros de la familia está indicada.

Abstract Objective: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. Methods: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. Results: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. Conclusion: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

[Adverse reaction to food additives in a pediatric patient]. / Reacción adversa por aditivos alimentarios en un paciente pediátrico.

BACKGROUND: Food additives are intentionally-added ingredients in order to modify physical, chemical, biological, or sensory characteristics of foods. Allergic reactions caused by additives are uncommon in children, and their prevalence is not known; however, they can be severe. CASE REPORT: An 8-year-old male presented with anaphylaxis and recurrent anaphylactic shocks due to multiple triggering factors such as food additives and medications. Point-of-care skin tests were performed with several additives, with positive results. Personalized emergency treatment was indicated in view of the possibility of anaphylaxis (adrenaline, diphenhydramine and dexamethasone) and environmental care for aeroallergens. Owing to a history of adverse reaction to salbutamol (giant or generalized urticaria), formoterol dry powder was indicated, which was well tolerated. Organic food exclusive consumption was recommended. CONCLUSIONS: The diagnosis of allergy to additives should be suspected when the patient has a suggestive medical history, allergy to multiple foods or medications, reaction with manufactured foods, unrelated to organic products.

Antecedentes: Los aditivos alimentarios son ingredientes agregados intencionalmente para modificar las características físicas, químicas, biológicas o sensoriales de los alimentos. Las reacciones alérgicas por aditivos son poco frecuentes en niños y se desconoce su prevalencia, sin embargo, pueden ser severas. Reporte de caso: Varón de ocho años que sufrió anafilaxia y choques anafilácticos recurrentes por múltiples desencadenantes como aditivos de alimentos y medicamentos. Se realizaron pruebas cutáneas de lectura rápida a varios aditivos, con resultados positivos. Se indicó tratamiento de urgencia personalizado ante la eventualidad de anafilaxia (adrenalina, difenhidramina y dexamentasona) y cuidado ambiental para control de aeroalérgenos. Debido al antecedente de reacción adversa al salbutamol (urticaria gigante o generalizada) se indicó formoterol en polvo seco, el cual fue bien tolerado. Se recomendó el consumo exclusivo de comidas orgánicas. Conclusiones: El diagnóstico de alergia a los aditivos debe sospecharse cuando el paciente presenta historia clínica sugerente, alergia a múltiples alimentos o fármacos, reacción con alimentos manufacturados, sin relación con productos orgánicos.

Maternal Obesity as a Risk Factor for the Development of Total Anomalous Pulmonary Venous Connection in Their Offspring.

The incidence of total anomalous pulmonary venous connection (TAPVC) in the Caucasian population is 2.5/100,000 live births (LB), and the incidence in the Hispanic population is 19.8/100,000 LB. Without knowing the exact etiology for the development of congenital heart disease, our objective was to determine the maternal factors associated with the development of TAPVC. METHODS: 55 mother-child binomials with isolated TAPVC (group I) and 152 healthy mother-child binomials (group II) were included. Both groups had no maternal history of addiction, pre-eclampsia, or type 1, 2 or gestational diabetes mellitus. Complete clinical histories were obtained for the women in both groups and perinatal and birth data were recorded. In addition, genealogies across three generations were constructed to determine affected first- or second-degree relatives with complex congenital heart disease. RESULTS: Among the maternal characteristics analyzed, women in group I had a higher number of pregnancies before gestation of the index case (p = <0.05), and the Body Mass Index (BMI) before pregnancy was higher compared to Group II (p < 0.05), with an adjusted risk of OR = 3.6 (p = 0.011). The family history showed a higher prevalence in the group of patients with TAPVC compared to healthy children (p < 0.05). CONCLUSION: Maternal obesity before pregnancy is a risk factor for the development of CATVP in children in the Mexican population.

[Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from The Federico Gomez Children's Hospital of Mexico]. / Prevalencia y espectro de las enfermedades que predisponen a la muerte súbita cardiaca en niños mexicanos: una muestra obtenida del Hospital Infantil de México Federico Gómez.

OBJECTIVE: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children, and to identify the main early signs and symptoms that can enable the health personnel to suspect these diseases and to refer the patients to a tertiary hospital in a timely manner. METHODS: Incidence, prevalence, and period prevalence, as well as early symptoms, clinical data, and follow-up were recorded on all children found with diseases that predispose to sudden cardiac death in The Children's Hospital of Mexico. RESULTS: The study included 59 patients, with a mean age of 8 ± 5 years old, with 40 cardiomyopathies, and 19 with inherited arrhythmogenic diseases. The period prevalence was 9.5/1,000 patients/year. The most common early symptoms were dyspnoea, palpitations, and syncope. A Mendelian inheritance pattern was found in 9 cases. Three patients died of sudden cardiac death during the period of the study. CONCLUSION: Diseases that predispose to sudden cardiac death in children are not very well known by the general medical community. Every child with dyspnoea, palpitations and/or syncope, should be referred for the intensive search of these diseases. A complete cardiological evaluation in all members of the family is indicated.

Tumores cardiacos fetales: importancia del diagnóstico prenatal y repercusiones perinatales / Fetal cardiac tumors. Case series: Importance of prenatal diagnosis and perinatal impact

Resumen ANTECEDENTES Los tumores cardiacos fetales son hallazgos esporádicos en el ultrasonido fetal con una incidencia de 1 caso por cada 10,000 nacidos vivos. Los rabdomiomas son los tumores cardiacos más comunes en la vida intrauterina (60-86%) seguidos por los fibromas y teratomas. Casi siempre tienen regresión espontánea, pueden ocasionar alteraciones hemodinámicas e incrementar la morbilidad y mortalidad perinatal; además de su importante asociación con el complejo de la esclerosis tuberosa, enfermedad genésica que cursa con epilepsia y déficit cognitivo. OBJETIVO Reportar la primera serie mexicana de casos de detección prenatal de rabdomiomas. MATERIALES Y MÉTODOS Estudio retrospectivo consistente en la revisión de los expedientes de todos los fetos con diagnóstico prenatal de tumores cardiacos registrados de enero de 2007 a diciembre de 2017 en el Hospital Ángeles Lomas. A todas las pacientes se les realizó ultrasonido de segundo nivel y ecocardiografía avanzada prenatal y postnatal. RESULTADOS Se estudiaron siete casos, la mayoría con tumoraciones únicas. En un caso hubo alteraciones hemodinámicas durante el periodo fetal que le ocasionaron la muerte. En dos casos se confirmó esclerosis tuberosa. CONCLUSIONES Se trata de la primera serie de casos mexicanos de tumores cardiacos fetales. Los hallazgos fueron similares a los reportados en la bibliografía mundial, excepto que se encontraron más casos de tumores únicos que de múltiples. El tamaño del tumor, el número y la localización pueden predecir el pronóstico perinatal y, en especial, la posibilidad de esclerosis tuberosa.

Abstract BACKGROUND Fetal cardiac tumors are sporadic findings in fetal ultrasound with an incidence of 1 case per 10,000 live births. Rhabdomyomas are the most common cardiac tumors in intrauterine life (60-86%) followed by fibroids and teratomas. They almost always have spontaneous regression, can cause hemodynamic alterations and increase perinatal morbidity and mortality; in addition to its important association with the tuberous sclerosis complex, a genetic disease that presents with epilepsy and cognitive deficit. OBJECTIVE To report the first Mexican series of cases of prenatal detection of rhabdomyomas. MATERIALS AND METHODS Retrospective study consisting of the review of the records of all fetuses with prenatal diagnosis of cardiac tumors registered from January 2007 to December 2017 at the Ángeles Lomas Hospital. All patients underwent second-level ultrasound and advanced prenatal and postnatal echocardiography. RESULTS Seven cases were studied, most of them with single tumors. In one case there were hemodynamic alterations during the fetal period that caused his death. In two cases, tuberous sclerosis was confirmed. CONCLUSIONS This is the first series of Mexican cases of fetal cardiac tumors. The findings were similar to those reported in the world literature, except that more cases of single tumors were found than multiple tumors. The size of the tumor, the number and the location can predict the perinatal prognosis and, especially, the possibility of tuberous sclerosis.

Arco aórtico derecho con subclavia izquierda aberrante y divertículo de Kommerell. Una causa de anillo vascular / Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring

Resumen: El arco aórtico derecho puede estar asociado a subclavia izquierda aberrante, en algunos casos esta se origina de una dilatación aneurismática que se conoce como divertículo de Kommerell. Se presentan 2 casos de anillo vascular formado por un arco aórtico derecho, subclavia izquierda anómala con divertículo de Kommerell y persistencia del conducto arterioso izquierdo con una revisión de la literatura acerca del desarrollo embriológico y los métodos de imagen que ayudan al diagnóstico de esta rara anomalía vascular.

Abstract: The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly.

[Right-side aortic arch with aberrant left subclavian artery and Kommerell's diverticulum. A cause of vascular ring]. / Arco aórtico derecho con subclavia izquierda aberrante y divertículo de Kommerell. Una causa de anillo vascular.

The right-side aortic arch may be associated with aberrant left subclavian artery, in some cases this artery originates from an aneurismal dilation of the aorta called Kommerell's diverticulum. A report is presented on 2 cases of vascular ring formed by a right-side aortic arch, anomalous left subclavian artery, Kommerell's diverticulum and left patent ductus arteriosus. A review the literature was also performed as regards the embryological development and the imaging methods used to help in the diagnosis of this rare vascular anomaly.