Fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot / Factores asociados con accidente vascular cerebral isquémico en niños y adolescentes con tetralogía Fallot / Factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot

Objetivo: verificar os fatores associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot. Método: estudo transversal, realizado com análise dos prontuários eletrônicos de crianças e adolescentes com tetralogia de Fallot acompanhados em um ambulatório especializado em cardiologia pediátrica no nordeste brasileiro. Os dados foram processados no SPSS 21.0. Aplicou-se Teste Qui-quadrado e/ou Exato de Fisher para medidas de associação (p≤0,05). Resultados: dos 104 prontuários eletrônicos analisados, o acidente vascular cerebral isquêmico na análise bivariada foi associado com hipotireoidismo, trombofilia, policitemia, endocardite, parada cardiorrespiratória, insuficiência renal aguda e insuficiência cardíaca. No modelo final da análise multivariada, foram preditores de acidente vascular cerebral isquêmico a trombofilia (p=0,011), policitemia (p<0,001) e parada cardiorrespiratória (p=0,005). Conclusão: trombofilia, policitemia e a parada cardiorrespiratória foram associados ao acidente vascular cerebral isquêmico em crianças e adolescentes com tetralogia de Fallot.

Objective: to verify the factors associated with ischemic stroke in children and adolescents with tetralogy of Fallot. Method: a cross-sectional study, carried out with analysis of electronic medical records of children and adolescents with tetralogy of Fallot followed up in an outpatient clinic specialized in pediatric cardiology in northeastern Brazil. The data was processed in SPSS 21.0. Chi-square and/or Fisher's exact test were used for association measures (p≤0.05). Results: of the 104 electronic medical records analyzed, ischemic stroke in the bivariate analysis was associated with hypothyroidism, thrombophilia, polycythemia, endocarditis, cardiac arrest, acute renal failure and heart failure. In the final multivariate analysis model, thrombophilia (p=0.011), polycythemia (p<0.001) and cardiac arrest (p=0.005) were predictors of ischemic stroke. Conclusion: thrombophilia, polycythemia, and cardiac arrest were associated with ischemic stroke in children and adolescents with tetralogy of Fallot.

Objetivo: verificar los factores asociados al ictus isquémico en niños y adolescentes con tetralogía de Fallot. Método: estudio transversal, realizado con análisis de registros médicos electrónicos de niños y adolescentes con tetralogía de Fallot seguidos en una consulta externa especializada en cardiología pediátrica en el noreste de Brasil. Los datos se procesaron en SPSS 21.0. Para las medidas de asociación se utilizó la prueba de Chi-cuadrado y / o Exacta de Fisher (p≤0.05). Resultados: de las 104 historias clínicas electrónicas analizadas, el ictus isquémico en el análisis bivariado se asoció con hipotiroidismo, trombofilia, policitemia y las complicaciones fueron endocarditis, parada cardiorrespiratoria, insuficiencia renal aguda e insuficiencia cardíaca. En el modelo final del análisis multivariado, los predictores de ictus isquémico fueron trombofilia (p = 0,011), policitemia (p <0,001) y paro cardíaco (p = 0,005). Conclusión: la trombofilia, la policitemia y el paro cardiorrespiratorio se asociaron al ictus isquémico en niños y adolescentes con tetralogía de Fallot.

Tetralogia de Fallot em crianças e adolescentes do Nordeste brasileiro: um estudo descritivo / Tetralogía de Fallot en niños y adolescentes del nordeste de Brasil: un estudio descriptivo / Tetralogy of Fallot in children and adolescents in northeastern Brazil: A descriptive study

Objetivo: caracterizar o perfil demográfico e clínico de crianças e adolescentes com tetralogia de Fallot e suas complicações clínicas. Materiais e método: estudo exploratório, de caráter descritivo, quantitativo, de corte transversal, com base na iniciativa Strengthening the Reporting of Observational Studies in Epidemiology (Strobe), a partir da análise dos prontuários eletrônicos de crianças e adolescentes acompanhadas em um ambulatório de referência em cardiologia e cirurgia cardiovascular pediátrica no Nordeste do Brasil. Os dados foram coletados de 2017 a 2019. Foram avaliadas variáveis demográficas, clínicas e complicações ocorridas, e calculadas a mediana, intervalo interquartil, frequências absolutas e relativas. Resultados: das 670 crianças e adolescentes atendidos com cardiopatia congênita, 104 (15,5%) apresentam diagnóstico de tetralogia de Fallot; a maioria era do sexo masculino (59,6%) e com idade entre 10 e 19 anos (49%). Foram evidenciadas complicações como acidente vascular cerebral isquêmico (6,7%), endocardite (2,9%) e insuficiência cardíaca (1,9%). Conclusões: faz-se necessário que os serviços e os profissionais de saúde, em especial o enfermeiro, estejam preparados para identificar os sinais e sintomas da tetralogia de Fallot e reconheçam as possíveis complicações relacionadas a essa cardiopatia congênita a fim de promover um cuidado de saúde com qualidade.

Objetivo: caracterizar el perfil demográfico y clínico de niños y adolescentes con tetralogía de Fallot y sus complicaciones clínicas. Materiales y método: estudio exploratorio, descriptivo, cuantitativo, transversal, basado en la iniciativa Fortalecimiento del Reporte de Estudios Observacionales en Epidemiología (STROBE), que incorpora el análisis de las historias clínicas electrónicas de niños y adolescentes en seguimiento por consulta externa en cardiología y cirugía cardiovascular pediátrica en el nordeste de Brasil. Se recolectaron datos de 2017 a 2019, analizando variables demográficas, clínicas y complicaciones. Además, se realizó el cálculo de la mediana, el rango intercuartílico y las frecuencias absolutas y relativas. Resultados: de los 670 niños y adolescentes tratados con cardiopatía congénita, 104 (15,5%) fueron diagnosticados con tetralogía de Fallot, la mayoría eran de sexo masculino (59,6%) entre 10 y 19 años (49%). Se evidenciaron complicaciones como ictus isquémico (6,7%), endocarditis (2,9%) e insuficiencia cardíaca (1,9%). Conclusiones: es necesario que los servicios y los profesionales de la salud, especialmente en enfermería, estén preparados para identificar los signos y síntomas de la tetralogía de Fallot y así reconocer posibles complicaciones relacionadas con esta cardiopatía congénita, con el fin de promover una atención de la salud con calidad.

Objective: To characterize the demographic and clinical profile of children and adolescents with tetralogy of Fallot and their clinical complications. Materials and method: Exploratory, descriptive, quantitative, cross-sectional study, based on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) initiative. This study involved the analysis of electronic medical records of children and adolescents under follow-up at a reference outpatient clinic in cardiology and pediatric cardiovascular surgery in northeastern Brazil. Data were collected from 2017 to 2019. Demographic and clinical variables and complications were evaluated, and the median, interquartile range, absolute and relative frequencies were calculated. Results: Out of 670 children and adolescents treated with congenital heart disease, 104 (15.5%) were diagnosed with tetralogy of Fallot. Most of these were male (59.6%) aged between 10 and 19 (49%). Among the complications identified we can mention ischemic stroke (6.7%), endocarditis (2.9%), and heart failure (1.9%). Conclusions: It is necessary that health services and professionals, especially nurses, are prepared to identify the signs and symptoms of tetralogy of Fallot and recognize the possible complications related to this congenital heart disease in order to promote quality health care.

Terminal deletion of the short arm of chromosome 6 (6P25 3P 243): a literature review and case report of a Brazilian child / Deleção terminal do braço curto do cromossomo 6 (6p25 3p 243): uma revisão de literatura e relato de caso de uma criança brasileira

Introduction: Deletion syndromes are rare events in clinical practice. A chromosomal deletion occurs when seg-ments of genetic information are missing on a particular chromosome or more. The absence of some genes implies varied phenotypes, which detailed explanation is not fully elucidated yet. Objective: Report the case of a child with a terminal segment deletion of 8,9 Mb on the short arm of chromosome 6 (in 6p25.3p24.3) Methods: This case report was approved by the Ethics and Research Committee of the institution. For its preparation, the exam data provided by the patient's family were added from prenatal to early childhood and the discussion with professionals related to the case. Results: B.A.G., a two-year-old female child, the only daughter of non-consanguineous par-ents, no family history of similar diseases. She was born by premature cesarean section (GA: 35 weeks), presenting Dandy-Walker malformation, Fallot tetralogy, head circumference in the 97th percentile, and syndromic facies, with hypertelorism, low implantation of the ears, and opacity of both lenses. Conclusion: Deletions on chromosome 6 are a very rare genetic alteration. Until 2004, there were only 43 cases in the medical literature, excluding ring chromosome 6 anomalie31. Regarding the terminal deletions of the short arm, this case specifically - 6p24pter - was associated with developmental delay, brain malformations, abnormalities in the anterior chamber of the eye, hearing loss, and abnormalities in the ear, micrognathia, and heart diseases (AU)

Introdução: As síndromes de deleção são eventos raros na prática clínica. A deleção cromossômica ocorre quando segmentos de informação genética são perdidos em um ou mais cromossomos. A ausência de alguns genes implica em fenótipos variados, cuja explicação detalhada ainda não está totalmente elucidada. Objetivo: Relatar o caso de uma criança com deleção de segmento terminal de 8,9 Mb do braço curto do cromossomo 6 (em 6p25.3p24.3) Métodos: Esse relato de caso foi aprovado pelo Comitê de Ética e Pesquisa da Instituição. Para sua elaboração, foram adicionados os dados de exames fornecidos pela família do paciente desde o pré-natal até a primeira infância e a discussão com profissionais relacionados ao caso. Descrição do Caso: B.A.G., criança de dois anos, sexo femi-nino, filha única de pais não consanguíneos, sem antecedentes na família de doenças similares. Nasceu por cesárea prematura (IG 35 semanas), apresentando Síndrome de Dandy-Walker, tetralogia de Fallot, perímetro cefálico no percentil 97 e fácie sindrômica, com hipertelorismo, baixa implantação das orelhas e opacidades do cristalino bi-lateralmente. Conclusão: As deleções no cromossomo 6 são alterações genéticas de grande raridade. Até 2004, existiam apenas 43 casos na literatura médica, excluindo a anomalia do cromossomo 6 em anal 31. No que se refere às deleções terminais do braço curto, a do caso em questão - 6p24-pter - foram associadas o atraso no desenvol-vimento, malformações cerebrais, anormalidades na câmara anterior do olho, perda auditiva, anormalidades no ouvido, micrognatia e cardiopatias (AU)

Clinical Characteristics of Patients with Tetralogy of Fallot who Underwent an Invasive Procedure for Arrhythmias

Introduction: Tetralogy of Fallot (TOF) is a cyanotic congenital heart disease that has an incidence of sudden cardiac death of 0.2% per year, being arrhythmias the main cause of its occurrence. Objective: To compare characteristics of TOF patients referred for electrophysiological study (EPS) against those that were not (No-EPS). Method: Retrospective cohort with 215 patients (57.2% men; age = 29 ± 4) with corrected TOF (median of three years, ranging from 0.33 to 51) that underwent EPS between 2009-2020. The primary outcome was composed of death, implantable cardiac defibrillator (ICD) requirement and hospitalization. Results: Pre-syncope (EPS = 4.7%, No-EPS = 0%; p = 0.004), syncope (EPS = 7.1%, No-EPS = 1.7%; p = 0.056) and palpitations (EPS = 31%, No-EPS = 5.8%; p < 0.001) were symptoms that justified electrophysiological investigation. ICD was implanted in 24% of EPS and 0.6% of No-EPS (p=0.001). Twenty-six percent of the EPS group presented non-sustained ventricular tachycardia, while 0% in No-EPS (p = 0.012). The EPS group had more atrial fibrillation or atrial Flutter (35.7% vs. 6.9%; p < 0.001). The EPS patients had a wider QRS duration than the no-EPS group (171.12 ± 29.52 ms vs. 147 ± 29.77 ms; p < 0.001). Also, 26.2% of EPS performed ablation to correct macroreentrant atrial tachycardias. The incidence of primary outcome (death + ICD requirement + hospitalization) was higher in patients in the EPS group compared to the No-EPS group (p = 0.001). However, the total of seven deaths occurred during the clinical follow-up, but without differences between the groups (EPS = 4.7% vs. No-EPS = 2.8%; p = 0.480). Conclusion: EPS group had a profile of greater risk, more complex heart disease, and a greater occurrence of the primary outcome when compared to the No-EPS group.

Intervenção Paliativa Endovascular no Lactente com Tetralogia de Fallot: Uma Série de Casos / Palliative Endovascular Intervention in Infants with Tetralogy of Fallot: A Case Series

Resumo Fundamento Tendo em vista os casos de lactentes sintomáticos com Tetralogia de Fallot (TF), baixo peso ao nascimento e anatomia complexa, o implante de stent na via de saída do ventrículo direito (VSVD) tem sido indicado alternativamente à cirurgia de Blalock-Taussig (BT). Objetivo Avaliar o implante endovascular de stent na VSVD como abordagem primária no lactente com TF e não candidato à cirurgia de BT, bem como relatar seus resultados a médio prazo e até a retirada do stent na cirurgia corretiva. Métodos Entre outubro de 2015 e abril de 2018, uma série de seis lactentes portadores de TF receberam stents para desobstrução da VSVD. Os parâmetros hemodinâmicos foram comparados em períodos pré e pós-implante. Resultados As medianas de idade e peso no momento do procedimento foram de 146,5 dias e 4,9 kg, respectivamente. O gradiente sistólico máximo diminuiu de 63,5 mmHg para 50,5 mmHg, enquanto o diâmetro dos ramos pulmonares direito e esquerdo aumentou de 3,5 mm para 4,9 mm e 4,3 mm, respectivamente. O índice de Nakata aumentou de 96,5 mm para 108,3 mm; assim como o peso, de 4,9 kg para 5,5 kg. A saturação de oxigênio aumentou de 83,5% para 93%. Houve um caso de migração do stent e dois óbitos, um deles devido à embolização do stent e o outro não teve relação com o procedimento. Conclusões O implante de stent na VSVD como procedimento paliativo na TF se mostra uma alternativa promissora para o tratamento de lactentes com má anatomia e baixo peso ao nascimento.

Abstract Background Endovascular stent placement in the right ventricular outflow tract (RVOT) has been an alternative to Blalock-Taussig (BT) surgery in the treatment of Tetralogy of Fallot (TOF) in symptomatic infants with low birth weight and complex anatomy. Objective To evaluate endovascular stent placement in the RVOT as a primary treatment for infants with TOF who are not candidates for BT surgery, and evaluate medium-term outcomes until the stent is removed during corrective surgery. Methods Six infants with TOF were treated with RVOT stenting from October 2015 to April 2018. Hemodynamic parameters were compared between the pre- and post-stenting periods. Results At the time of stenting, participants had a median age and weight of 146.5 days and 4.9 kg, respectively. Peak systolic gradient decreased from 63.5 mm Hg to 50.5 mm Hg, while the diameter of the left and right pulmonary arteries increased from 3.5 mm to 4.9 mm and 4.3 mm, respectively. The Nakata index increased from 96.5 mm to 108.3 mm; weight increased from 4.9 kg to 5.5 kg; and oxygen saturation, from 83.5% to 93%. There was one case of stent migration and two deaths, one caused by stent embolization and the other unrelated to study procedures. Conclusions RVOT stenting is a promising alternative for the palliative treatment of TOF in infants with low birth weight and complex anatomy.

Rabdomioma cardiaco en relación con tetralogía de Fallot y esclerosis tuberosa / Cardiac rhabdomyoma associated with tetralogy of Fallot and tuberous sclerosis

Resumen Los tumores cardiacos son inhabituales en la edad pediátrica; de ellos, el rabdomioma es el más prevalente. Su curso suele ser benigno. Los casos sintomáticos obedecen a su efecto mecánico obstructivo o a la presencia de arritmias. No es común su asociación con cardiopatías congénitas. Se presenta el caso de un lactante con rabdomiomas múltiples dentro del complejo de esclerosis tuberosa y portador de tetralogía de Fallot con estenosis infundibulovalvular grave, quien presentó crisis de hipoxia que requirió valvuloplastia pulmonar percutánea, la cual se complicó por arritmia supraventricular y tuvo un desenlace fatal.

Abstract Cardiac tumors are rare in pediatrics, and when they occur, rhabdomyomas are the most prevalent. They are generally benign; symptomatic cases are due to mechanical obstruction or arrhythmias. They are not commonly associated with congenital heart disease. We present the case of an infant with multiple rhabdomyomas as part of tuberous sclerosis complex, and tetralogy of Fallot with severe infundibular and valvular stenosis, who presented a hypoxic crisis requiring percutaneous pulmonary valvuloplasty which was complicated by supraventricular arrythmia and had a fatal outcome.

A Rare Associated Anomaly in Tetralogy of Fallot: Scimitar Syndrome in an Infant

Abstract Pulmonary venous connections may be infrequently abnormal in patients with tetralogy of Fallot (TOF). A special subgroup of partial anomalous pulmonary venous return,"scimitar cyndrome", and its coexistence with TOF is less frequently reported. It may proceed unnoticed, as cyanosis already predominates in the clinical picture. This uncommon association must be kept in mind for patients with TOF who have an accessory flow in the inferior vena cava, especially when all pulmonary venous return to the left atrium is not clearly seen.

Divertículo de Meckel en asociación a onfalocele y tetralogía de Fallot: reporte de caso y revisión de la literatura / Meckel's diverticulum in association with omphalocele and tetralogy of Fallot: Case report and literature review

El onfalocele o exónfalos se definen como un defecto congénito de la pared abdominal, que consiste en la herniación de las vísceras abdominales a través del anillo umbilical. Esta entidad rara vez se asocia a la comunicación del divertículo de Meckel con el saco del onfalocele. Teniendo en cuenta la escasa prevalencia de dicha entidad, compartimos el reporte de caso de un paciente recién nacido, con diagnóstico de onfalocele menor, en quien se sospechaba ruptura del saco, sin embargo, de manera intraoperatoria se encontró que la aparente ruptura del saco, correspondía a la comunicación con un divertículo de Meckel. El caso además se asoció con hallazgos ecocardiográficos de tetralogía de Fallot

Omphalocele or exomphalos are defined as a congenital defect of the abdominal wall, which consists of the herniation of the abdominal viscera through the umbilical ring. This entity is rarely associated with the communication of Meckel's diverticulum with the omphalocele sac. Considering the low prevalence of this entity, we report the case of a newborn with a diagnosis of minor omphalocele, in whom rupture of the sac was suspected; however, intraoperatively it was found that the apparent rupture of the sac corresponded to a communication with a Meckel's diverticulum. The case was also associated with echocardiographic findings of tetralogy of Fallot

Short-term outcome of polytetrafluoroethylene membrane valve versus transannular pericardial patch reconstruction of right ventricular outflow tract in tetralogy of fallot: a randomized controlled trial

Abstract Introduction: Reconstruction of right ventricular outflow tract during primary repair of tetralogy of Fallot often requires the placement of a transannular patch which results in pulmonary regurgitation (PR). We compared the short-term outcomes of bicuspid polytetrafluoroethylene membrane valve versus transannular pericardial patch reconstruction of the right ventricular outflow tract. Methods: Thirty consecutive patients undergoing primary repair of tetralogy of Fallot were randomly allocated to two groups - polytetrafluoroethylene valve (PTFEV) group (n=15) and transannular pericardial patch (TAP) group (n=15). The two groups had similar preoperative demographic characteristics. We compared the short-term clinical and echocardiographic outcomes between these groups. The transthoracic echocardiographic follow-up was performed at one week, one month and six months after surgery. Results: The PTFEV group had significantly lower central venous pressure in the immediate postoperative period compared to the TAP group (7.60±2.06 vs. 10.13±1.73, P=0.002). Extubation time was significantly shorter in the PTFEV group compared to the TAP group (12.93±7.55 hrs vs. 22.23±15.11 hrs, P=0.04). PR in the PTFEV group was absent in five patients at 24 hours post-surgery. At the study endpoint, PR was absent in six, trivial in one and mild in eight patients in the PTFEV group compared to TAP group, where all 15 patients had severe PR. Conclusion: The bicuspid polytetrafluoroethylene membrane valves significantly decrease the central venous pressure in the immediate postoperative period, facilitate early extubation and, thus, prevent ventilator-related comorbidities. They achieve a high degree of pulmonary competence and do not increase the right ventricular outflow tract gradient in short-term follow-up.

Caracterización de la fisiología restrictiva del ventrículo derecho mediante flujo 4D / 4-D flow characterization of right ventricular restrictive physiology

Abstract: Right ventricular restrictive physiology (RVRP) occurs in diverse clinical scenarios, most frequently after repair of Tetralogy of Fallot (TOF). Cardiac magnetic resonance (CMR) can comprehensively evaluate RVRP using 4D flow along with anatomical and fibrosis characterization. Also, RVRP is associated with less pulmonary regurgitation and fewer right ventricle enlargement; its long term protective role is debated. RVRP is a challenging and relevant diagnosis, which hallmark is the presence of antegrade pulmonary arterial Flow in late diastole throughout the respiratory cycle. Also, other hemodynamic findings could aid such us flow in; caval veins, suprahepatic, coronary sinus and tricuspid valve. Obtaining all these flow curves is virtually impossible by echocardiography. CMR with 4DF is a unique and powerful technique enabling this comprehensive hemodynamic evaluation as depicted in this case.

Informe de caso y revisión bibliográfica: Tetralogía de Fallot / Case report and bibliographic review: Tetralogy of Fallot

La Tetralogía de Fallot es la enfermedad cardiaca congénita cianótica más común y requiere una corrección quirúrgica temprana; se presenta el caso de una paciente que a los seis meses es sometida a cirugía paliativa de derivación sistémico pulmonar con fistula Blalock Taussing modificada con in-jerto de Goretex, su cuadro no mejora con el paso de los años debiéndose realizar cirugía de corrección total. Al ingreso presenta disnea de medianos esfuerzos, astenia, cianosis peribucal y distal que ceden con el reposo; en tórax presencia de cicatriz infra axilar compatible con cirugía paliativa previa, corazón: R1 y R2 rítmicos, normo fonéticos, presencia de soplo holosistólico en foco pulmonar y soplo infraclavicular izquierdo de fístula sistémico pulmo-nar. En la radiografía de tórax se observa aumento de índice cardiotorácico e hilios vasculares, el ecocardiograma pre quirúrgico transtorácico reporta estenosis infundibular por hipertrofia severa del miocardio, gradiente máximo de 90 mm/Hg. La cirugía de corrección total de Tetralogía de Fallot luego de procedimientos paliativos previos, con control por ecocardiograma transesofágico transoperatorio mejora la calidad de vida del paciente.

Tetralogy of Fallot is the most common cyanotic congenital heart disease and requires early surgical correction, this is a case of a patient who at six months undergoes palliative pulmonary systemic bypass surgery with modified Bla-lock Taussing fistula with Goretex graft, his condition does not improve with the passing of the years and a total correction surgery must be performed.Upon admission, the patient presents: dyspnea of medium efforts, asthenia, peribucal and distal cyanosis that yield with rest; in thorax presence of infra axillary scar compatible with previous palliative surgery, heart: rhythmic R1 and R2, phonetic norm, presence of holosystolic murmur in pulmonary focus and left infraclavicular murmur of pulmonary systemic fistula.The chest radiograph shows an increase in cardiothoracic index and vascu-lar congenital and prominent hilum, transthoracic pre-surgical echocardio-graphy is performed where infundibular stenosis is observed due to severe myocardial hypertrophy, maximum gradient of 90 mm / Hg.Tetralogy of Total Fall correction surgery after previous palliative procedures, with transoperative transesophageal echocardiogram control, improves the patient's quality of life.

Cardiopatías congénitas asociadas a la microdeleción 22q11. 2, en un hospital pediátrico / Congenital heart defects associated with a 22q11. 2 microdeletion at a pediatric hospital

Introducción: El síndrome de deleción 22q11.2, también llamado síndrome Velo-Cardio-Facial (VCFS/del22q11.2) o síndrome de DiGeorge, es una entidad causada por una anomalía cromosómica, deleción en la región q11.2 (brazo largo) del cromosoma 22. Se trata de una enfermedad multisistémica de expresión variable que afecta el aparato cardiovascular, la inmunidad, las funciones endocrinológicas, la cavidad oral, el desarrollo neurocognitivo, con una expresión facial particular. La prevalencia estimada es de 1:2000/4000. Objetivos: Identificar y describir las cardiopatías congénitas más frecuentemente asociadas a pacientes con síndrome de microdeleción 22q11.2. Materiales y métodos: Estudio descriptivo, transversal y retrospectivo que analiza los pacientes con diagnóstico de microdeleción 22q11.2 atendidos en el Hospital Garrahan desde Octubre de 1998 hasta Febrero 2018. El criterio diagnóstico fueron signos clínicos compatibles y la presencia de la microdeleción 22q11.2 por técnica de FISH o MLPA. Resultados: Población: 321 pacientes, 151 Femeninos (47%) 170 Masculinos (53%). Rango etario: 0 a 197 meses (1 día a 16,4 años). Mediana de edad al diagnóstico clínico: 31 meses. El 74,4% (239/321) de los pacientes evaluados con microdeleción 22q11.2 tuvieron cardiopatías congénitas asociadas a facies peculiar. Las cardiopatías congénitas más frecuentemente asociadas fueron conotroncales. De los pacientes con cardiopatías congénitas el 68,6% requirió cirugía cardiovascular. Fallecieron 24 pacientes (10%) con cardiopatías congénitas asociadas y en el 93% la causa de muerte estuvo relacionada a la afección cardiológica. Conclusiones: Los pacientes con microdeleción 22q11.2 se asocian con un alto porcentaje de cardiopatías congénitas, la gran mayoría son complejas (conotroncales) y requieren resolución quirúrgica en los primeros años de vida. Es de vital importancia la evaluación multidisciplinaria de este grupo especial de pacientes con cardiopatía asociada a otras alteraciones extra cardíacas para el diagnóstico precoz y tratamiento oportuno (AU)

Introduction: 22q11.2 deletion syndrome, also called velocardiofacial syndrome (VCFS/del22q11.2) or DiGeorge syndrome, is a condition caused by chromosomal abnormality, a deletion in the q11.2 region (long arm) of chromosome 22. VCFS is a multisystem disease of variable expression that affects the cardiovascular, immune, and endocrine systems, the oral cavity, neurocognitive development, and is associated with specific facial features. The estimated prevalence is 1:2000/4000. Objectives: To identify and describe the most common congenital heart defects associated with 22q11.2 micro-deletion syndrome. Materials and methods: Descriptive, cross-sectional, and retrospective study analyzing patients diagnosed with a 22q11.2 microdeletion seen at Garrahan Hospital from October 1998 to February 2018. Diagnostic criteria were compatible clinical signs and the presence of a 22q11.2 microdeletion identified by FISH or MLPA. Results: Population: 321 patients, 151 female (47%) and 170 Male (53%). Age range: 0 to 197 months (1 day to 16.4 years). Median age at clinical diagnosis: 31 months. Overall, 74.4% (239/321) of patients with a 22q11.2 microdeletion had congenital heart defects associated with a peculiar facies. The most commonly associated congenital heart defects were conotruncal. Of the patients with congenital heart defects, 68.6% required cardiovascular surgery. Of the patients with congenital heart defects 24 patients died (10%) and in 93% the cause of death was related to the heart disease (p 0.002). Conclusions: A high percentage of patients with a 22q11.2 microdeletion have congenital heart defects, which are complex (conotruncal) in the majority, requiring surgical treatment in the first years of life. Multidisciplinary evaluation of this special group of patients with heart defects associated with other extracardiac disorders is essential for an early diagnosis and timely treatment (AU)

The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.

RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralogia de Fallot e 100 com comunicação interventricular) e 100 indivíduos livres de defeitos cardíacos congênitos foram recrutados, e uma análise quantitativa de PCR em tempo real foi utilizada para replicar a associação de duas variações de número de cópia de defeitos cardíacos congênitos, em uma população chinesa da etnia Han. RESULTADOS: Uma supressão em PRKAB2 e duplicação em PPM1K foram encontradas em dois pacientes com tetralogia de Fallot, respectivamente; todas essas regiões estavam duplicadas nos pacientes com comunicação interventricular e nos 100 indivíduos livres de defeitos cardíacos congênitos. CONCLUSÃO: Nós replicado a variações no número de cópias de genes candidatos de doença PRKAB2 e PPM1K com tetralogia de Fallot em uma população chinesa da etnia Han; em pacientes com comunicação interventricular, não foram encontradas mutações nesses dois genes. Estes resultados indicam que a mesma genética de população molecular existe nestes dois genes em diferentes etnias. Isso mostra que esses dois genes são possivelmente candidatos a genes específicos de tetralogia de Fallot.

Tetralogía de Fallot y ecocardiografía / Case report: echocardiography in Fallot tetralogy

Tetralogy of Fallot is the most frequent cyanotic congenital heart disease. This is a case report of a pediatric patient who underwent her surgery with the monitorization of tranesopageal echocardiography

La tetralogía de Fallot es la cardiopatía congénita cianosante más frecuente. Se presenta un caso clínico de un paciente pediátrico que se monitorizó con ecocardiografía transesofágica intraoperatoria y se muestran las imágenes y los cambios en el manejo debido a la monitorización ecocardiográfica.

Caso Clínico: Tetralogía de Fallot Extrema / Case Report: Extreme Tetralogy of Fallot

INTRODUCCIÓN: La tetralogía de Fallot representa la cardiopatía congénita cianógena más frecuente después del primer año de vida, ocurre aproximadamente en 1 de cada 3 500 nacimientos y representa el 7 al 10% de todas las Enfermedades Cardiacas Congénitas. Su variante extrema que se acompaña de atresia pulmonar representa el 1 a 2% de las cardiopatías congénitas. Presentamos una Tetralogía de Fallot Extrema Ductus Dependiente de manejo complejo. CASO CLÍNICO: Se trata de un neonato a término de 12 días de vida, adecuado para la edad gestacional, sin factores de riesgo prenatales, ni antecedentes patológicos familiares, el cual es diagnosticado de Tetralogía de Fallot Extrema por ecocardiograma. EVOLUCIÓN: Paciente inicialmente tratado con infusión de prostaglandina E1. Posteriormente mediante fístula Blalock-Taussig izquierda. CONCLUSIONES: Para mejorar el pronóstico y sobrevida de un paciente con Tetralogía de Fallot Extrema el diagnóstico prenatal oportuno y el tratamiento apropiado es de vital importancia, sin embargo el tratamiento definitivo con derivaciones pulmonares sistémicas representan complicaciones con riesgo de mortalidad. El presente caso tuvo un desenlace desfavorable.

BACKGROUND: The Tetralogy of Fallot represents the most common cyanogenic heart disease after the first year of life. It occurs in 1 of 3 500 live births and accounts as 7 to 10% of all Congenital Heart Diseases. Its extreme variant is accompanied by pulmonary atresia and accounts 1 to 2% of the Congenital Heart Diseases. We present an Extreme Tetralogy of Fallot­ Ductus Dependent of complex management. CLINICAL CASE: A full term 12 day neonate, adequate for gestational age, without prenatal risk factors or pathologic family antecedents, is diagnosed with Extreme Tetralogy of Fallot by echocardiogram. EVOLUTION: The patient was treated initially with an infusion of prostaglandin E1. Then, a left Blalock-Taussig shunt was performed. CONCLUSIONS: To improve the prognosis and survival rates of patients with Extreme Tetralogy of Fallot , a timely diagnosis and treatment are of vital importance. Definitive treatment with systemic pulmonary shunts carries high risk complications. The present case had an unfavorable evolution.

When is the best time for corrective surgery in patients with tetralogy of fallot between 0 and 12 months of age?

Abstract Objective: To identify the best time for corrective surgery of tetralogy of Fallot (TF) in children aged 0-12 months and to report the most frequent complications during the first 3 years postoperatively. Methods: Systematic review of studies published between 2000 and 2017 on corrective surgery for TF. Articles were selected through search of electronic databases (PubMed, SciELO, Scopus, Lilacs, Google Scholar, and Cochrane). Length of stay in intensive care unit, duration of mechanical ventilation, and peri/postoperative complications were analyzed for data discussion and research interpretation. Conclusion: Definitive corrective surgery is the best alternative, and the earlier it is performed, the lower the occurrence of harmful effects and the greater the chances of cardiorespiratory recovery. This systematic review suggests that the best time to perform definitive corrective surgery for TF in the first year of life is during 3-6 months of age in children with no or mild symptoms. Children with severe symptoms should undergo surgery immediately.