[Cardiovascular manifestations in pediatric multisystem inflammatory syndrome associated with COVID-19 in a tertiary care pediatric center in Mexico City]. / Alteraciones cardiovasculares en el síndrome inflamatorio multisistémico pediátrico asociado a COVID-19 en un hospital pediátrico de tercer nivel de la Ciudad de México.

Objective: The objective is to expose the cardiovascular alterations in patients diagnosed with pediatric inflammatory multisystem syndrome (PIMS) associated with COVID-19 during the SARS-CoV-2 pandemic, in order to understand the disease, its evolution, and optimal management upon diagnosis. Method: Retrospective, observational, cross-sectional analytical study of patients diagnosed with PIMS according to the criteria of the World Health Organization at the National Institute of Pediatrics, from March 2020 to December 2021. Results: During the study period, 77 patients with PIMS were diagnosed. The results showed correlation between the shock state and alteration of laboratory markers (platelets 144217.29 ± 139321.6 µL [p < 0.001], procalcitonin 27.37 ± 38.37 ng/ml [p = 0.05] and ferritin 1937.87 ± 2562.63 [p < 0.001]). The ventricular function in patients with shock was significantly lower compared to those without shock (49.6 ± 9.1% vs. 58.1 ± 8.4 %; t-Student p < 0.001), as well as injury to the left coronary artery (p = 0.02). There is a correlation between NT-proBNP and ventricular dysfunction (Kruskal-Wallis p = 0.007). Statistical significance was found in the association between death, elevation of inflammatory markers and ventricular dysfunction (p < 0.001). Conclusions: The cardiovascular alterations observed, in order of frequency, were pericardial effusion (25.7%), myocarditis (15%), mild ventricular dysfunction (13.5%) and small coronary aneurysm with predominance of the left coronary artery and the anterior descending one.

Objetivo: Exponer las alteraciones cardiovasculares en los pacientes diagnosticados con síndrome inflamatorio multisistémico pediátrico (PIMS) asociado a COVID-19 durante la pandemia por SARS-CoV-2 con el fin de comprender la enfermedad, su evolución y el manejo óptimo al diagnóstico. Método: Estudio retrospectivo, observacional, transversal y analítico de pacientes con diagnóstico de PIMS de acuerdo con los criterios de la Organización Mundial de la Salud en el Instituto Nacional de Pediatría, de marzo de 2020 a diciembre de 2021. Resultados: Durante el periodo de estudio se diagnosticaron 77 pacientes con PIMS. Los resultados demostraron una correlación entre el estado de choque y la alteración de los marcadores de laboratorio (plaquetas 144217.29 ± 139321.6 µl [p < 0.001], procalcitonina 27.37 ± 38.37 ng/ml [p = 0.05] y ferritina 1937.87 ± 2562.63 [p < 0.001]). La función ventricular en los pacientes con choque se registró significativamente menor en comparación con aquellos sin choque (49.6 ± 9.1 % vs. 58.1 ± 8.4 %; t de Student p < 0.001), así como lesión en la arteria coronaria izquierda (p = 0.02). Existe una correlación entre el NT-proBNP y la disfunción ventricular (Kruskal-Wallis p = 0.007). Se encontró significancia estadística en la asociación entre fallecimiento, elevación de los marcadores inflamatorios y disfunción ventricular (p < 0.001). Conclusiones: Las alteraciones cardiovasculares observadas fueron, en orden de frecuencia, derrame pericárdico (25.7%), miocarditis (15%), disfunción ventricular leve (13.5%) y aneurisma pequeño coronario con predominio de la arteria coronaria izquierda y la descendente anterior.

[Diagnosis and treatment in a series of patients with cardiac corrected transposition of the great arteries (double discordance)]. / Diagnóstico y tratamiento en una serie de pacientes con transposición corregida de las grandes arterias (doble discordancia cardiaca).

Objective: The atrio-ventricular and ventricle-arterial double discordance (DD) or corrected transposition of the great arteries is a rare heart disease, it occurs in 0.02-0.07 of every 1,000 live newborns. The objective of the study is to describe the diagnosis, treatment and evolution of a series of patients with DD. Method: A retrospective and descriptive study was carried out, reviewing the records of patients diagnosed with DD in the last 22 years. Descriptive statistics were performed. Numerical variables were obtained using means and standard deviation and categorical variables using frequencies and percentages. Results: Thirty patients were studied in 22 years with a ratio of 1.5:1 for men, with a mean age of 20 months. The situs was solitus in 24/29 patients (82.7%). Ventricular septal defect was the most frequent lesion in 25/29 (86.2%) Tricuspid insufficiency in 70%. Four patients diagnosed with pulmonary atrial hypertension. With atrio-ventricular block 20%. One with Wolff-Parkinson-White syndrome. Surgical treatment was carried out in 70% of patients. Eight with Glenn procedure (26.6%) and 4 with Fontan surgery (13.3%). Follow-up ranged from 1 month to 17 years. Five died (16.6%). Of the 25 patients in follow-up, 18 patients (72%) had normal ventricular function, 5 with Grade II Ross classification (20%) and 2 in Grade III (8%). Conclusions: The quality of life of these patients is improving and there is still controversy in the literature about the ideal time to perform the most appropriate surgical procedure.

Objetivo: La doble discordancia auriculo-ventricular y ventrículo-arterial (DD) o transposición corregida de las grandes arterias, se presenta en 0.02-0.07 de cada 1,000 recién nacidos vivos. El objetivo del estudio es describir el diagnóstico, tratamiento y evolución de pacientes con DD. Método: Se realizó un estudio retrospectivo y descriptivo, revisando los registros de pacientes con DD en los últimos 22 años. Se realizó estadística descriptiva. Las variables numéricas se obtuvieron mediante medias y desviación estándar y las categóricas mediante frecuencias y porcentajes. Resultados: Se estudiaron 30 pacientes con una relación de 1.5:1 para el varón, con una edad media de 20 meses. El situs fue solitus en 24/29 pacientes (82.7%). La comunicación interventricular fue la lesión más frecuente en 25/29 pacientes (86.2%), insuficiencia tricuspídea en el 70%. Cuatro pacientes con diagnóstico de hipertensión arterial pulmonar. Con bloqueo atrio-ventricular un 20%. Uno con síndrome de Wolff-Parkinson-White. El tratamiento quirúrgico se realizó en el 70% de los pacientes. Con procedimiento de Glenn 8 (26.6%) y 4 cirugías de Fontan (13.3%). El seguimiento fue de 1 mes a 17 años. Cinco fallecieron (16.6%). De los 25 restantes, 18 pacientes (72%) con función ventricular normal, 5 con clasificación de Ross grado II (20%) y 2 en G III (8%). Conclusiones: La calidad de vida de estos pacientes está mejorando, aún existe controversia sobre el momento ideal para realizar el procedimiento más adecuado quirúrgico.

Congenital pulmonary vein stenosis and bronchopulmonary vascular malformation / Estenosis congénita de venas pulmonares y malformación vascular broncopulmonar

The objective is demonstrate the diagnostic process and evolution of a patient with a diagnosis of congenital pulmonary vein stenosis and broncho-pulmonary vascular malformation. One year old female patient with repeated bronchopneumonia, acrocyanosis, split S2, cardiomegaly, pulmonary hypertension, with a clinical diagnosis of atrial septal defect. The echocardiogram demonstrated left sided vein pulmonary stenosis. The cardiac catheterization demonstrated arterial-venous fistulas apical on the right lung. Magnetic Resonance image and angiography showed an aberrant arterial vessel parallel to the abdominal aorta which flow the right pulmonary lobe. The cardiac tomography angiography reported confluence of right-sided pulmonary veins. A lobectomy is performed. Patient died in post-operative due to massive pulmonary hemorrhaging. This is the first patient mentioned in written literature with pulmonary vein stenosis associated with pulmonary sequestration, with normal venous connection. Echocardiography represents the specific standard study ideal for initial diagnostic for patients with pulmonary vein stenosis.

El objetivo es mostrar el diagnóstico y la evolución de una paciente con estenosis de venas pulmonares y secuestro pulmonar. Se trata de una niña de 1 año de edad, con bronconeumonías de repetición, acrocianosis, 2R intenso, cardiomegalia, hipertensión venocapilar pulmonar, con diagnóstico clínico de comunicación interauricular. El ecocardiograma mostró estenosis de venas pulmonares izquierdas. El cateterismo cardiaco detectó fístulas arteriovenosas en la región apical del pulmón derecho. La imagen de resonancia magnética y la angiografía mostraron un vaso arterial aberrante paralelo a la aorta abdominal y con flujo dirigido al lóbulo pulmonar derecho. La angiotomografía reportó confluencia de las venas pulmonares del lado derecho. Se realizó lobectomía derecha. La paciente falleció en el posoperatorio debido a una hemorragia masiva pulmonar. Esta paciente es la primera descrita en la literatura con estenosis de venas pulmonares congénita asociada a secuestro pulmonar. La ecocardiografía es el estudio diagnóstico ideal inicial en los pacientes con estenosis congénita de venas pulmonares.

[Frecuencia de cardiopatías congénitas y adquiridas en 4,544 niños. Estudio basado en ecocardiografía]. / Frequency of 4,544 children with congenital and acquired heart disease. Echocardiographic study

Objective: To aim the incidence of congenital and acquired heart disease in our institution. Material and methods: A retrospective, transverse, descriptive and comparative study was conducted, from August 2001 to July 2011, in which we evaluated echocardiograms of patients between the ages of newborn to 18 years of age. They were grouped by heart disease. In the last statistical analysis, we obtained the frequency of occurrence and the proportional value of each cardiopathy. Results: In the last 10 years, we founded 4,544 patients with heart disease. The 14 most common cardiopathies represented 89% of the statistic. The congenital heart disease most frequent was persistent ductus arteriosus with 896 patients (19%), and the acquired heart disease most frequent was myocarditis with 116 patients (2.5%). The tetralogy of Fallot was most frequent congenital heart disease with cyanosis. Conclusions: The frequencies of congenital and acquired heart disease are different in difference geographic and ethnics areas.

Objetivo: Mostrar la frecuencia de las cardiopatías congénitas y adquiridas en nuestra institución. Material y métodos: Se realizó un estudio retrospectivo, transversal y descriptivo donde se revisaron las libretas de los estudios ecocardiográficos, realizados en pacientes cuyas edades fueron de recién nacidos a 18 años y se agruparon por tipos de cardiopatías. En el análisis estadístico obtuvimos la frecuencia de ocurrencia, el valor de la proporción de cada cardiopatía. Resultados: En los últimos 10 años ingresaron 4,544 pacientes con cardiopatía. Las 14 cardiopatías más frecuentes correspondieron al 89.21% de la estadística. La cardiopatía más frecuente fue la persistencia del conducto arterioso con 896 pacientes (19%) y la cardiopatía adquirida más frecuente fue la miocardiopatía, con 116 pacientes (2.5%). La tetralogía de Fallot fue la cardiopatía cianógena más frecuente, con 139 pacientes (3%), a diferencia de otros países. Conclusiones: La frecuencia de cardiopatías congénitas y adquiridas es variable en diferentes áreas étnicas y geográficas.

Supravalvular aortic stenosis associated to infectious endocarditis and cerebral vascular disease in a patient with Williams-Beuren Syndrome.

The Williams-Beuren syndrome is a rare genetic disease characterized by: (a) typical facial features; (b) psychomotor retardation with a specific neurocognitive profile; (c) cardiovascular condition and (d) likely transient hypocalcemia in infancy. The objective of this study was to describe the clinic evolution and diagnosis of patient with this syndrome that was associated with endocarditis caused by Streptococcus parasanguis in the ascending aorta and an aneurism located in the fronto-temporal area, which produced a parenchymal hematoma in the left lobe, and subarachnoid hemorrhage. He was treated with ceftriaxone and dicloxacillin. Then we proceeded to correct the aneurysm and perform vegetation resection in aortic arteries with supravalvular aortic stenosis correction. The evolution after one year has been favorable and is currently without neurologic sequelae. A 5-year-old male patient presented a diagnosis of supravalvular aortic stenosis. After cardiac catheterization was performed, he presented a fever and right side paresis. The echocardiogram showed multiple vegetations in the ascendant aortic arch and the supraortic arteries. The blood cultures reported S. parasanguis. The magnetic resonance showed a subarachnoid hemorrhage with an aneurysm and a hematoma.

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Congenital heart defects (CHD) are found in ~50 % of Down syndrome (DS) patients. Genetic variants have been implicated, including CRELD1 mutations, but no previous study has examined the candidate genes, NKX2-5 and GATA4, in DS patients with secundum atrial defects (ASDII) and ventricular septal defects (VSD). Furthermore, CRELD1 mutations have not yet been studied in Mexican DS patients with atrioventricular septal defects (AVSD). Mexican DS patients (n = 148) with standard trisomy 21 were classified as follows: group I, normal heart; group II, VSD, ASDII, or both; and group III, AVSD. Mexican healthy controls (n = 113) were also included. Sequence analysis was performed on NKX2-5 and GATA4 in all three groups, and on CRELD1 in only group III. Statistical differences in the percentages of functional variants were analyzed by Fisher's exact test. Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). The p.Glu21Gln and R25C were also documented in 0.88 % of the controls. No significant difference was observed between the DS groups and healthy controls. Germline mutations in the NKX2-5, GATA4, and CRELD1 genes do not appear to be associated with CHD in Mexican DS patients. Our findings also support the notion that the R25C variant of NKX2-5 is a polymorphism, as it was not significantly different between our DS patients and controls.

[Cardiac malformations in patients with pentalogy of Cantrell and ectopia cordis]. / Malformaciones cardiacas en pacientes con pentalogía de Cantrell y ectopia cordis.

We studied 21 patients who presented with a diagnosis of pentalogy of Cantrell. Their mean age was 40 days. All patients presented with congenital heart disease. Six presented with ectopia cordis. Every patient was subjected to echocardiography. Double outlet right ventricle, an atrial septal defect and dextrocardia were seen in 5 patients (24%). Four patients survived. Seventeen died, 12 from sepsis or septic shock. Autopsies were performed on 10 patients. All of the ectopia cordis patients died. Pentalogy of Cantrell is uncommon, and its association with ectopia cordis indicates poor prognosis. Full English text available from: www.revespcardiol.org.

Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.

In this study, we have identified and evaluated the cardiovascular anomalies associated with Williams-Beuren syndrome in children.In a retrospective, lineal, and observational study, we reviewed the files of children who were seen from 1980 through 2005 (25 years) after a clinical diagnosis of Williams-Beuren syndrome.Forty children were diagnosed with this syndrome at the National Institute of Pediatrics in Mexico City. Of these, 32 (80%) were found to have congenital heart defects. The male-to-female ratio was 1.3:1 and ages ranged from 6 months to 15 years (mean, 4.4 years) at the time of diagnosis. All of the patients had morphologic and genetic characteristics typical of the syndrome.We emphasize the cardiovascular aspects from a clinical point of view. Supravalvular aortic stenosis was our most frequent finding, in 18 of 32 patients (56%); gradient differences in these patients ranged from 14 to 81 mmHg. Five patients showed combined lesions, the most frequent being supravalvular aortic stenosis in combination with pulmonary artery brachial stenosis, or with atrial and ventricular defects. Patients with incomplete atrioventricular defect and bicuspid aortic valve, as were seen at our hospital, have not to our knowledge been reported in other studies.One of the patients was scheduled for balloon dilation; another was scheduled for surgery; a 3rd patient was operated on twice for the placement of an aorto-aortic bridge; another underwent ventricular septal defect closure; and yet another underwent aortoplasty, this last dying shortly after surgery.

[Cyanosis, a clinical sign of methemoglobinemia]. / Cianosis como manifestación de metahemoglobinemia.

OBJECTIVE: to present clinical and laboratory characteristics for diagnosing methemoglobinemia. METHODS: a retrospective revision of last 28 years medical records at the Pediatric National Institute in patients with diagnosis of methemoglobinemia. We review medical drug ingestion, symptoms, oxymetry, gasometry, blood levels of methemoglobin, treatment and evolution. RESULTS: five male patients an one female aged five months to 15 years were studied. Five cases were acquired and one was congenital. Cyanosis was the predominant clinical manifestation. Methemoglobin blood level was between 25 and 50%. The treatment was with intravenous methylene blue with good results in all cases. CONCLUSIONS: children with cyanosis who do not have cardiac or pulmonary disease, may have methemoglobinemia. It is necessary to know which drugs develop methemoglobinemia to make the diagnosis of congenital disease in children in order to give the early treatment.

Síndrome de Klippel-Feil: una enfermedad musculoesquelética, con malformaciones cardiovasculares asociadas / Klippel-feil syndrome, a skeletal muscle disease associated to cardiovascular anomalies

Introducción. El síndrome de Klippel-Feil (SKF) es un padecimiento de herencia autosómica dominante con penetrancia reducida y expresión variable, en el cual la tríada clínica inicial es de cuello corto, disminución en la movilidad del cuello e implantación baja del cabello posterior. Se asocia a otras malformaciones congénitas, entre ellas a cardiopatía (4-14%). El diagnóstico de la cardiopatía se debe realizar por el conocimiento de la asociación con este síndrome y con el apoyo del ecocardiograma. Material y métodos. Estudio retrospectivo, lineal, descriptivo y observacional de los niños con SKF atendidos durante los últimos 22 años en el Instituto Nacional de Pediatría, SS. Se analizaron las anomalías cardiovasculares, género, edad, tipo de herencia, datos clínicos y evolución. El diagnóstico clínico se realizó por el ortopedista y el cardiológico apoyado por ecocardiograma. Resultados. De los 46 pacientes, 24 correspondieron al género femenino y 22 al masculino. Las edades oscilaron entre un mes y 14 años.Todos los casos fueron de presentación esporádica. Las características clínicas más frecuentes fueron musculoesqueléticas, renales y cardiacas. Fueron valorados por el servicio de cardiología 19 pacientes, de los cuales 7 presentaron malformaciones cardiovasculares (7/46). Las cardiopatías que se presentaron fueron: comunicación interauricular (CIA), estenosis pulmonar (EP), comunicación interventricular (CIV) y dextrocardia, una paciente presentó además hipertensión arterial pulmonar primaria. Conclusiones. La proporción de cardiopatías en el SKF en nuestro hospital fue de 0.5. Las cardiopatías más frecuentes fueron la CIA, CIV y la EP. Hasta el momento ninguno de los pacientes ha fallecido.

Introduction. Klippel-Feil syndrome is a hereditary autosomal dominant disease with reduced penetrance and variable expression. It is characterized by multiple malformations but the 3 more constant are short neck, diminished mobility of the same and low implantation of posterior hair, associated to other congenital malformations as cardiopathy (4-14%).The diagnosis of cardiopathy must be done, first by knowledge of the association with this syndrome and after by clinical suspicion plus echocardiogram. Material and methods. In a study of 22 years in the National Institute of Pediatrics, we found 46 cases with Klippel-Feil syndrome of which 7 had cardiovascular anomalies.These were diagnosed with echocardiogram. Results. Of the 46 cases, 19 were evaluated by cardiologists; of these 7 (15%) had cardio-pulmonary malformations. Other malformations included: interauricular septal defect (ASD), interventricular septal defect (VSD), pulmonary stenosis (EP) and dextrocardia and one patient presented primary pulmonary hypertension.As of this communication, all patients are living. Conclusion. In this series, the proportion of cardiovascular anomalies was 15%. We conclude that all patients with Klippel-Feil syndrome should have a thorough cardiological evaluation including an echocardiogram.

[Heart malformations in children with Down syndrome]. / Malformaciones cardíacas en los niños con síndrome de Down.

INTRODUCTION AND OBJECTIVES: A longitudinal, retrospective, observational descriptive study was done at the National Institute of Pediatrics in Mexico City to determine the incidence, type of heart disease and clinical course in patients with Down syndrome (DS), and to compare the findings with data from other countries. Down syndrome is a disease caused by trisomy of chromosome 21. The frequency of presentation in one in 650 live births. Frequency in the general population is about 1%. Cardiac malformation is the main cause of mortality in the first 2 years of life. PATIENTS AND METHOD: In a 5-year period 275 patients (aged neonate to 13 years) were diagnosed with DS. Diagnosis was based on echocardiogram, catheterization, genetics, surgical exploration or necropsy. Age, sex, clinical manifestations, mother's age, type of heart defect were recorded. RESULTS: Of the 275 children with DS, 160 had congenital heart disease. The most frequent cardiopathies were interauricular septal defect (IASD), interventricular septal defect (IVSD) and patent ductus arteriousus (PDA) (90%). In contrast to the data from other countries, only 14 patients (8%) had atrioventricular septal defect (AVSD). Twenty-five patients died (15%) from sepsis and cardiogenic shock. CONCLUSIONS: At our institute 58% of the children with DS had congenital heart malformation. The most frequent cardiopathies were different from those reported in other countries.