RESUMO
Gaucher type 3C disease with porcelain aorta can cause severe hemodynamic impairment. We report the first case, to our knowledge, of a 13-year-old Mexican girl with a GBA1 homozygous c.1342G>C [p.Asp448His] (commonly known as p.D409H) pathogenic variant who underwent extensive aortic replacement. She has been on enzyme replacement therapy and is alive 5 years after surgery. (Level of Difficulty: Intermediate.).
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OBJECTIVE: To evaluate the pulmonary venous flow in children with dilated cardiomyopathy and to establish its correlation with mitral Doppler flow and with the functional class. METHODS: It is a descriptive and transversal study in which we evaluated the pulmonary venous flow and its correlation with mitral Doppler flow and the functional class in 14 children with dilated cardiomyopathy. RESULTS: Nine patients were female. The mean age was 5.58 years and the mean follow up was 17 months. The functional class was I in 7 patients, II in 4 and III in 3. When diastolic function was evaluated using mitral Doppler flow it was abnormal in 9 of 14 patients, while the pulmonary venous flow was altered in all 14 patients since S/D ratio was abnormal in all. S wave was reduced in 12 patients; D wave was elevated in 8 patients, A reverse wave was elevated in 4 patients and in 8 the A reverse wave length was higher than mitral A wave length. CONCLUSIONS: Systolic function of the left ventricle is reduced in children with dilated cardiomyopathy. Diastolic function is also frequently abnormal in this group of patients. Pulmonary venous flow identifies better the abnormal diastolic function and correlates better with functional class than mitral Doppler flow.
Assuntos
Cardiomiopatia Dilatada/diagnóstico por imagem , Cardiomiopatia Dilatada/fisiopatologia , Circulação Pulmonar , Veias Pulmonares/fisiopatologia , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Fluxo Sanguíneo Regional , UltrassonografiaRESUMO
OBJECTIVE: To present our experience in the echocardiographic diagnosis of anomalous origin of one pulmonary artery from the ascending aorta (AOPA). To analyze its clinical presentation, treatment and outcomes with special emphasis in the echocardiographic data. METHOD: We reviewed restrospectively the clinical, hemodynamic data, and surgical findings of patients with an echocardiographic diagnosis of AOPA studied in the Hospital Infantil of Mexico "Federico Gomez" from 1991 to 2002. RESULTS: The study includes 12 children with AOPA; Seven were males. The average age at diagnosis was two months; 4 in neonatal period, 3 under 1 year and 5 older than 1 year. The diagnosis was established prospectively by echocardiography in all patients and it was confirmed by angiography in 8 and at surgery in 9. Ten had anomalous origin of right pulmonary artery. The associated anomalies were patent ductus arteriosus in 6, ventricular septal defect in 2 and aortopulmonary window, atrioventricular discordance, double outlet right ventricle and tetralogy of Fallot in one case each. Nine underwent corrective surgery of all the anomalies. One patient died on the sixth postoperative day; the remaining are in good condition without stenosis at the site of the anastomosis. Surgery was refused in one. One patient was not candidate to surgery due to advanced obstructive pulmonary vascular disease (OPVD) and one case is awaiting surgery. CONCLUSION: The diagnosis of AOPA may be established with precision through echocardiography. Cardiac catheterization is seldom needed to confirm morphology but is mandatory in older children with suspected of OPVD.
Assuntos
Aorta/anormalidades , Cardiopatias Congênitas/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Adolescente , Aorta/diagnóstico por imagem , Aorta/cirurgia , Aortografia , Cateterismo Cardíaco , Pré-Escolar , Ecocardiografia Doppler , Feminino , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Resultado do Tratamento , Procedimentos Cirúrgicos Vasculares/métodosRESUMO
BACKGROUND AND AIMS: Currently, obesity has become a worldwide health problem affecting even children and yet little is known about its role as a determinant of high blood pressure in this age group. The aim of this epidemiological study was to determine the relationship between the increment of body mass index (BMI) and waist circumference (WC) on systolic blood pressure (SBP) and diastolic blood pressure (DBP) in children and teenagers. METHODS: The study was performed in Mexico City schools. Overweight was established if BMI ranged from >or=85(th) to <95(th) percentiles and obesity if BMI was >or=95(th) percentile. WC was classified in two categories, one ranging between the 75(th) and 89.9(th) percentiles and >90(th) percentile. Blood pressure was measured four times during one visit by the auscultatory method. High blood pressure was defined if the levels were >or=90(th) percentile according to the guidelines of the 2004 North American Task Force. RESULTS: Ages of the study population ranged from 5-8 (n = 474), 9-12 (n = 643) and 13-17 (n = 912) years, respectively. The levels of blood pressure and prevalence of high blood pressure were higher in overweight and obese children and adolescents. In both genders, the prevalence of SBP and DBP increased directly correlated with increments in age, BMI and WC, although prevalence and odd ratios of high blood pressure were higher in individuals with increased WC in comparison to BMI. CONCLUSIONS: Increases in WC and BMI are parameters directly associated with high blood pressure in children and adolescents.
Assuntos
Índice de Massa Corporal , Hipertensão/epidemiologia , Obesidade/complicações , Circunferência da Cintura , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão/etiologia , Modelos Logísticos , Masculino , México/epidemiologiaRESUMO
INTRODUCTION AND OBJECTIVES: Lifetime prognosis following successful repair of aortic coarctation can be affected by a number of late complications. The objective of this study was to assess left ventricular function in these patients and to identify factors that predispose to functional abnormalities. METHODS: The study involved patients who had undergone repair of aortic coarctation and who had a pressure gradient pound 15 mmHg after repair and normal systemic blood pressure. Echocardiographic data collected before repair and the results of the most recent postoperative left ventricular function studies were analyzed. RESULTS: The study involved 40 patients and 31 controls. Their mean age at repair was 6.9 years and the mean follow-up period was 4.25 years. During follow-up, the ejection fraction and the shortening fraction were observed to increase in 82.5% and 67.5% of patients, respectively. The myocardial performance index was abnormal in 47.5% of patients. The highest myocardial performance indices were observed in patients with arterial hypertension at diagnosis, in those who were aged over 4 years when they underwent repair, and in those with the most abnormal left ventricles before repair. CONCLUSIONS: Measurement of the myocardial performance index showed that global left ventricular function was abnormal in 47.5% of patients after successful repair of aortic coarctation despite functional parameters being normal or elevated.
Assuntos
Coartação Aórtica/fisiopatologia , Coartação Aórtica/cirurgia , Função Ventricular Esquerda/fisiologia , Adolescente , Coartação Aórtica/diagnóstico por imagem , Pressão Sanguínea/fisiologia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Prognóstico , Resultado do Tratamento , UltrassonografiaRESUMO
Introducción. La leucemia aguda linfoblástica (LAL) es la neoplasia maligna más frecuente en los niños y constituye el 25% de todos los tipos de cáncer. Actualmente, la supervivencia en estos niños es superior al 70% debido al mejor entendimiento de su fsiopatología, al desarrollo de nuevos agentes de quimioterapia y a la mejoría de los cuidados de soporte y manejo de las complicaciones propias de la enfermedad y secundarias al tratamiento. Caso clínico. Reportamos un caso de septicemia y pericarditis purulenta por estafilococo dorado en el cuadro inicial de una LAL. La pericarditis en el curso de una leucemia en niños es una manifestación inusual y puede representar la muerte del paciente. Hay 18 casos reportados en el mundo de niños con leucemia y pericarditis. En 6 de ellos se encuentra una etiología infecciosa incluyendo S. aureus, Phytum insidiosum, Candida sp., S. pneumoniae y dos por Aspergillus. Conclusiones. Éste es el segundo caso de pericarditis purulenta por estafilococo reportado en la literatura. Representa el tercer caso de infltración pericárdica publicado en nuestro hospital. Es importante resaltar que la vía de entrada del estafilococo pudo ser mediante un procedimiento de acupuntura previo al diagnóstico. Estos recursos de medicina alternativa son ampliamente utilizados por nuestra población.
Background. Acute lymphoblastic leukemia (ALL) represents the most common cause of childhood cancer, accounting for 25% of all malignancies. Overall survival has improved remarkably due to the better understanding of its pathophysiology, the creation of new chemotherapy regimes and the improvement of the supportive care and the management of the disease complications as well as to complications secondary to treatment. Case report. We report a case of septicemia and purulent pericarditis secondary to Staphylococcus aureus in the initial presentation of ALL. Pericarditis in the course of leukemia in children is an unusual presentation. There are 18 cases reported worldwide of children with leukemia and pericarditis. In six cases an infectious etiology was found including S. aureus, Candida sp, Phytum insidiosum, S. pneumonia and two by Aspergillus. Conclusions. This is the second case of purulent pericarditis secondary to S. aureus reported in the literature. It represents the third case of pericardial infltration of leukemia reported by our hospital. It is important to note that S. aureus may have entered the bloodstream through an acupuncture procedure performed prior to diagnosis. These alternative resources are widely used in the Mexican population.
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OBJECTIVE: To evaluate the pulmonary venous flow in children with dilated cardiomyopathy and to establish its correlation with mitral Doppler flow and with the functional class. METHODS: It is a descriptive and transversal study in which we evaluated the pulmonary venous flow and its correlation with mitral Doppler flow and the functional class in 14 children with dilated cardiomyopathy. RESULTS: Nine patients were female. The mean age was 5.58 years and the mean follow up was 17 months. The functional class was I in 7 patients, II in 4 and III in 3. When diastolic function was evaluated using mitral Doppler flow it was abnormal in 9 of 14 patients, while the pulmonary venous flow was altered in all 14 patients since S/D ratio was abnormal in all. S wave was reduced in 12 patients; D wave was elevated in 8 patients, A reverse wave was elevated in 4 patients and in 8 the A reverse wave length was higher than mitral A wave length. CONCLUSIONS: Systolic function of the left ventricle is reduced in children with dilated cardiomyopathy. Diastolic function is also frequently abnormal in this group of patients. Pulmonary venous flow identifies better the abnormal diastolic function and correlates better with functional class than mitral Doppler flow.
Assuntos
Pré-Escolar , Feminino , Humanos , Masculino , Cardiomiopatia Dilatada , Cardiomiopatia Dilatada , Circulação Pulmonar , Veias Pulmonares , Estudos Transversais , Fluxo Sanguíneo RegionalRESUMO
Introducción. El objetivo del presente trabajo es presentar la experiencia del Hospital Infantil de México Federico Gómez en el cierre transcateterismo del conducto arterioso persistente (PCA). Material y métodos. Se seleccionaron 29 pacientes de 2-12 años de edad con PCA que fueron estudiados por ecocardiografía bidimensional para oclusión con espirales de Gianturco.Resultados. En todos excepto en 2 se implantó el oclusor; 28/29 conductos eran infundibuliformes con diámetro de su boca pulmonar de 1.1 a 3.0 mm (media 1.94 ñ 0.49 mm). La oclusión total se logró en 26/27 procedimientos. En 2 casos se llevaron a cabo procedimientos transcateterismo adicionales: una biopsia miocárdica y una valvuloplastia pulmonar. La selección ecocardiográfica fue correcta en todos los casos excepto en 1 que resultó ser tubular a la angiografía y en otro con hipertensión arterial pulmonar moderada que disminuyó de inmediato después del cierre con el oclusor. De los 29 intentos de oclusión, en el paciente que presentaba un conducto arterial tubular se retiró el oclusor, otro presentó embolia de éste y en un tercero se demostró un cortocircuito mínimo 3 meses después. El primero se cerró quirúrgicamente con éxito y los 2 restantes evolucionan sin problemas en espera de su cierre definitivo. En los 26 restantes se logró la oclusión total del conducto sin complicaciones. Durante el seguimiento entre 5 y 22 meses (media 13.1 meses), ningún paciente presenta déficit de pulso femoral ni otros eventos adversos.Conclusión. Esta experiencia apoya la premisa que tras una evaluación ecocardiográfica cuidadosa de niños con PCA, un grupo importante de ellos es candidato al cierre percutáneo de éste con altas posibilidades de éxito.
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Humanos , Masculino , Feminino , Pré-Escolar , Permeabilidade do Canal Arterial , Cateterismo Cardíaco , EcocardiografiaRESUMO
Objetivo: Presentar nuestra experiencia en el diagnóstico ecocardiográfico del origen anómalo de una rama de la arteria pulmonar naciendo de la aorta ascendente (OAAP) y analizar su presentación clínica, tratamiento y evolución con especial énfasis en los aspectos ecocardiográficos. Método: Revisamos retrospectivamente los expedientes clínicos, estudios de gabinete y hallazgos transoperatorios de los pacientes con diagnóstico ecocardiográfico de OAAP estudiados en el Hospital Infantil de México "Federico Gómez" de 1991 al 2002. Resultados: El estudio incluye 12 niños con OAAP. Siete fueron hombres. La edad media de presentación fue de 2 meses. Cuatro pacientes se diagnosticaron en la etapa neonatal, 3 en el primer año y 5 después del año. El diagnóstico se estableció prospectivamente por ecocardiografía en todos y se confirmó al cateterismo en 8 y a la cirugía en 9. El origen aórtico de la rama derecha se encontró en 10 casos y de la izquierda en 2. Las anomalías asociadas fueron PCA en 6, CIV en 2 y ventana aortopulmonar, discordancia atrioventricular, doble vía de salida ventricular derecha y tetralogía de Fallot en 1 caso respectivamente. Se operaron 9 casos. Un paciente falleció en el 6o día postoperatorio. Los restantes se encuentran en buenas condiciones sin estenosis en el sitio de la anastomosis. La cirugía no fue aceptada en un caso. Un paciente no fue candidato a cirugía por enfermedad vascular pulmonar (EVP) avanzada y otro está en espera de cirugía. Conclusiones: El diagnóstico del OAAP puede establecerse con exactitud mediante ecocardiografía. El cateterismo cardiaco rara vez es necesario para confirmar la morfología, pero es obligado en niños mayores con sospecha de EVP.
Objective: To present our experience in the echocardiographic diagnosis of anomalous origin of one pulmonary artery from the ascending aorta (AOPA). To analyze its clinical presentation, treatment and outcomes with special emphasis in the echocardiographic data. Method: We reviewed restrospectively the clinical, hemodynamic data, and surgical findings of patients with an echocardiographic diagnosis of AOPA studied in the Hospital Infantil of Mexico "Federico Gomez" from 1991 to 2002. Results: The study includes 12 children with AOPA; Seven were males. The average age at diagnosis was two months; 4 in neonatal period, 3 under 1 year and 5 older than 1 year. The diagnosis was established prospectively by echocardiography in all patients and it was confirmed by angiography in 8 and at surgery in 9. Ten had anomalous origin of rigth pulmonary artery. The associated anomalies were patent ductus arteriosus in 6, ventricular septal defect in 2 and aortopulmonary window, atrioventricular discordance, double outlet right ventricle and tetralogy of Fallot in one case each. Nine underwent corrective surgery of all the anomalies. One patient died on the sixth postoperative day; the remaining are in good condition without stenosis at the site of the anastomosis. Surgery was refused in one. One patient was not candidate to surgery due to advanced obstructive pulmonary vascular disease (OPVD) and one case is awaiting surgery. Conclusion: The diagnosis of AOPA may be established with precision through echocardiography. Cardiac catheterization is seldom needed to confirm morphology but is mandatory in older children with suspected of OPVD. (Arch Cardiol Mex 2003; 73:115-123).
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Adolescente , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Aorta/anormalidades , Cardiopatias Congênitas , Artéria Pulmonar/anormalidades , Aortografia , Aorta/cirurgia , Aorta , Cateterismo Cardíaco , Ecocardiografia Doppler , Cardiopatias Congênitas , Cardiopatias Congênitas/cirurgia , Artéria Pulmonar , Artéria Pulmonar , Estudos Retrospectivos , Resultado do Tratamento , Procedimentos Cirúrgicos Vasculares/métodosRESUMO
Introducción. El síndrome hipereosinofílico (SHE) es un desorden leucoproliferativo caracterizado por sobreproducción sostenida de eosinófilos sin causa definida. Es característico de la enfermedad la afección de diferentes órganos incluyendo el corazón. Es una entidad rara en adultos y aún más en edad pediátrica.Caso clínico. Masculino de 6 años de edad con SHE y cardiopatía adquirida caracterizada por insuficiencia mitral grave secundaria a fibrosis de la valva posterior. El diagnóstico se realizó por ecocardiografía y se corroboró por biopsia miocárdica. En espera de recambio de válvula mitral el paciente falleció secundario a insuficiencia cardiaca grave. Conclusión. En este paciente el ecocardiograma permitió el adecuado diagnóstico de la lesión cardiaca, siendo la imagen muy característica, que por experiencia no se ha visto en otros tipos de miocardiopatías. Dada la poca frecuencia de esta entidad la biopsia miocárdica sigue estando indicada para confirmar y estadificar la lesión.
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Humanos , Masculino , Criança , Insuficiência da Valva Mitral/diagnóstico , Síndrome Hipereosinofílica/diagnóstico , EosinofiliaRESUMO
Introducción. La embolización transcateterismo de vasos intratorácicos anormales y de otras malformaciones vasculares (hemangioendotelioma hepático), es un recurso accesible y efectivo para su tratamiento, con un bajo índice de complicaciones. Se describe la experiencia de 11 niños entre 43 días y 14 años de edad manejados con técnicas de oclusión vascular durante el cateterismo. Material y métodos. De junio de 1991 a agosto de 1998, 9 niños con anomalías vasculares sintomáticas que complicaban el manejo de la cardiopatía subyacente y 2 con hemangioendotelioma hepático e insuficiencia cardiaca (IC) grave, fueron sometidos a oclusión de la circulación anormal usando partículas de gelfoam en 1 y espirales metálicas (Coils) en el resto. Resultados. Como parte del manejo del síndrome de cimitarra en 4 casos se logró la oclusión total de la circulación vicariante pulmonar de la aorta descendente. De 2 casos con hemangioendotelioma hepático, en 1 se logró la oclusión completa de las arterias nutricias. En 2 escolares con cardiopatía cianótica y hemoptisis grave recurrente secundaria a fístulas arteriovenosas intratorácicas se intentó la oclusión de los vasos anómalos, lográndolo por completo en 1 con la aplicación de múltiples coils y en forma temprana en el otro aplicando partículas de gelfoam, falleciendo antes de poder repetir el procedimiento. En 2 casos con ventrículo derecho hipoplásico (VDH) se concluyeron conexiones ventrículo-coronarias y en 1 caso con atresia pulmonar e IC por hiperflujo de colaterales aórticas, se embolizaron 2 de ellas logrando su mejoría clínica. Conclusiones. El abordaje transcateterismo es el único recurso viable en el manejo de las fístulas sistémico-pulmonares sintomáticas y de elección para ocluir arterias sistémicas de distribución anormal. Es necesaria mayor experiencia para el manejo de anomalías coronaria en VDH