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2.
Rev. ecuat. pediatr ; 22(3): 1-7, 30 de diciembre del 2021.
Article in Spanish | LILACS | ID: biblio-1352458

ABSTRACT

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.


Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.


Subject(s)
Humans , Child, Preschool , Craniofacial Abnormalities , Heart Defects, Congenital , Noonan Syndrome , Congenital Abnormalities , Genes
3.
Enferm. foco (Brasília) ; 12(3): 615-621, dez. 2021. tab, ilus
Article in Portuguese | LILACS, BDENF | ID: biblio-1352938

ABSTRACT

Objetivo: Identificar produções científicas sobre os cuidados paliativos com crianças cardiopatas hospitalizados. Metodologia: Trata-se de uma revisão integrativa para a identificação de produções científicas nacionais e internacionais sobre cuidados paliativos com crianças cardiopatas realizada em 2019, para a seleção dos artigos científicos foram utilizados os seguintes descritores: criança; cardiopatia congênita; cuidados paliativos; assistência ao paciente; enfermagem e cardiologia. Do material obtido, 67 artigos procederam-se a leitura, destacando-se oito artigos aos quais responderam ao critério de elegibilidade. Resultados: Os cuidados paliativos iniciam no diagnóstico e continuam mesmo que o paciente receba ou não um tratamento curativo. Com a progressão da doença, há o aumento na carga de trabalho da enfermagem dos quais se estendem até o luto. A integração entre o tratamento curativo e paliativo melhora a coordenação e evita a fragmentação dos cuidados, levando o máximo possível de bem estar físico, emocional, social e espiritual para a criança e seu familiar. Conclusão: Apesar do aumento de publicações brasileiras em cuidados paliativos pediátricos, ainda há escassez de literatura científica sobre a assistência à criança cardiopata em cuidados paliativos. (AU)


Objective: To identify scientific productions on palliative care with hospitalized children with heart disease. Methods: This is an integrative review for the identification of national and international scientific productions about palliative care with children with heart disease, conducted in 2019. To selection of the scientific articles the following descriptors were used: child; congenic cardiopatics; palliative care; patient care; nursing and cardiology. From the material obtained, 67 articles were read, highlighting eight articles which met the eligibility criteria. Results: Palliative care are approached at diagnosis and continues even if the patient receives curative treatment or not, with the progression of the disease, there is an increase in palliative care assistance, from which they extend to mourning, the integration between curative and palliative treatment improves care coordination, avoids fragmentation of care, bringing as much physical, emotional, social and spiritual well-being as possible to the child and family. Conclusion: Despite the increase in Brazilian publications on pediatric palliative care, scientific studies on child care in palliative care are still scarce considering other diseases besides cancer and reporting the importance of the entire health team for the humanization of care. (AU)


Objetivo: Identificar producciones científicas sobre cuidados paliativos con niños hospitalizados con enfermedades del corazón. Métodos: Esta es una revisión integradora para la identificación de producciones científicas nacionales e internacionales sobre cuidados paliativos con niños con enfermedades cardíacas, realizada en 2019. Para la selección de los artículos científicos, se utilizaron los siguientes descriptores: niño; enfermedad cardíaca congénita; cuidados paliativos; cuidado del paciente; enfermería y cardiología. Del material obtenido, se leyeron 67 artículos, destacando ocho artículos que cumplían con los criterios de elegibilidad. Resultados: Los cuidados paliativos comienzan en el momento del diagnóstico y continúan incluso si el paciente recibe tratamiento curativo o no, con la progresión de la enfermedad, hay un aumento en la asistencia de cuidados paliativos, desde el cual se extienden hasta el duelo, la integración entre El tratamiento curativo y paliativo mejora la coordinación de la atención, previene la fragmentación de la atención y brinda el mayor bienestar físico, emocional, social y espiritual posible al niño y la familia. Conclusión: A pesar del aumento en las publicaciones brasileñas sobre cuidados paliativos pediátricos, los estudios científicos sobre el cuidado infantil en cuidados paliativos aún son escasos considerando otras enfermedades además del cáncer e informando la importancia de todo el equipo de salud para la humanización de la atención. (AU)


Subject(s)
Child , Palliative Care , Cardiology , Nursing , Heart Defects, Congenital
4.
Rev. colomb. anestesiol ; 49(4): e400, Oct.-Dec. 2021. graf
Article in English | LILACS, COLNAL | ID: biblio-1341243

ABSTRACT

The accompanying images demonstrate giant pulmonary artery aneurysms in a patient with idiopathic pulmonary arterial hypertension (Image 1). In addition to the main pulmonary artery, both the left and right pulmonary arteries are aneurysmal and are compressing the lung parenchyma (Image 2).


Las imágenes adjuntas muestran aneurismas gigantes de la arteria pulmonar en un paciente con hipertensión arterial pulmonar idiopática (Imagen 1). Además de la arteria pulmonar principal, tanto la arteria pulmonar izquierda como la derecha son aneurismáticas y están comprimiendo el parénquima pulmonar (Imagen 2).


Subject(s)
Humans , Pulmonary Artery , Radiology , Aneurysm , Familial Primary Pulmonary Hypertension , Parenchymal Tissue , Heart Defects, Congenital
5.
Arch. pediatr. Urug ; 92(2): e211, dic. 2021. tab
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1278304

ABSTRACT

Introducción: las cardiopatías congénitas (CC) son patologías frecuentes en pediatría. Son causa de importante morbimortalidad en la infancia. Son pacientes complejos, que requieren abordaje integral, en equipo interdisciplinario. Objetivos: describir las características epidemiológicas, clínicas y evolutivas de niños portadores de CC asistidos en la Unidad de Cardiología del HP-CHPR durante el año 2015, así como su estado nutricional y los factores que pudieran influir en este. Material y método: estudio descriptivo, retrospectivo, a través de la revisión de historias clínicas de pacientes portadores de CC, hospitalizados en la Unidad de Cardiología del HP-CHPR en 2015. Se describieron características epidemiológicas y clínicas de los pacientes. Resultados: en el período evaluado egresaron 63 pacientes, que representaron una tasa de 6,58/1.000 egresos hospitalarios. Tenían un promedio de edad de 23,8 meses. Un total de 8 pacientes fueron diagnosticados en el período prenatal, 54 presentaban CC no cianóticas. Habían sido sometidos a tratamiento quirúrgico 24 niños, 13 con cirugía correctiva. Se diagnosticó desnutrición en 43%. Esta fue más prevalente en portadores de CC cianótica, de defectos complejos, y de cromosomopatías u otras malformaciones. Conclusión: los niños con CC representaron un pequeño porcentaje de quienes requirieron hospitalización en el HP-CHPR. El porcentaje de desnutrición fue elevado. Este estudio confirma la importante morbimortalidad de los niños pequeños portadores de CC. Es importante reconocer el mayor riesgo de estos pacientes y actuar en forma individualizada y oportuna.


Introduction: congenital heart disease (CHD) is a frequent pathology among children. It may cause significant morbidity and mortality during childhood. These are complex patients, who require a comprehensive approach and an interdisciplinary team. Objective: to describe the epidemiological, clinical and evolutionary characteristics of children with CHD assisted in the Cardiology Department of the Children Hospital-CHPR in 2015. Material and Methods: descriptive, retrospective study, review of clinical records of patients with CHD, hospitalized in the Cardiology Department of the Children's Hospital PRHC in 2015. Epidemiological and clinical characteristics of patients were described. Results: 63 patients were hospitalized during the evaluated period, a total rate of 6.58/1.000 discharges. They had an average age of 23.8 months. Eight patients were diagnosed in the prenatal period, 54 presented non-cyanotic CHD. Twenty-four children had undergone surgical treatment, 13 had had corrective surgery. Malnutrition was diagnosed in 43% and it was more prevalent in cyanotic CHD carriers, complex defects, and chromosomopathies or other malformations. Conclusion: CHD represented a small percentage of the children who required hospitalization at the PH-PRHC. The percentage of malnutrition was high. The study confirmed the significant morbidity and mortality of these patients. It is important to recognize the highest risk of these patients and act in a customized and timely fashion.


Introdução: as cardiopatias congênitas (CC) são patologias comuns em pediatria. Elas são uma causa significativa de morbidade e mortalidade na infância. Os pacientes são complexos e requerem uma abordagem integral e uma equipe interdisciplinar. Objetivos: descrever as características epidemiológicas, clínicas e evolutivas de crianças com CC atendidas na Unidade de Cardiologia do Hospital Pediátrico PHPR durante o ano de 2015, descrever seu estado nutricional e os fatores que poderiam influenciá-lo. Material e métodos: estudo descritivo, retrospectivo, feito por meio da revisão de prontuários de pacientes com CC, internados na Unidade de Cardiologia do HP-CHPR em 2015. Foram descritas as características epidemiológicas e clínicas dos pacientes. Resultados: no período avaliado, 63 pacientes receberam alta hospitalar, representando uma taxa de 6,5/1.000 altas hospitalares. Eles tinham uma idade média de 23,8 meses. Oito pacientes foram diagnosticados no período pré-natal, 54 apresentavam CC não cianótica. 24 crianças tinham sido submetidas a tratamento cirúrgico, 13 tinham recebido cirurgia corretiva. 43% foram diagnosticadas com desnutrição, a qual foi mais prevalente em portadores de CC cianótica, defeitos complexos e malformações cromossômicas ou outras. Conclusão: os CCs representaram um pequeno percentual de crianças que necessitaram de internação no HP-CHPR. O percentual de desnutrição foi alto. Este estudo confirma a morbidade e mortalidade significativas de crianças pequenas com CC. É importante reconhecer o risco aumentado desses pacientes e agir de forma individualizada e oportuna.


Subject(s)
Humans , Male , Female , Pregnancy , Infant , Child, Preschool , Child , Adolescent , Malnutrition/complications , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/epidemiology , Hospitalization , Prenatal Diagnosis , Epidemiology, Descriptive , Retrospective Studies , Malnutrition/diagnosis , Malnutrition/epidemiology , Heart Defects, Congenital/surgery , Heart Defects, Congenital/classification
6.
Rev. colomb. cardiol ; 28(4): 378-382, jul.-ago. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1351936

ABSTRACT

Resumen El túnel aorto-ventricular derecho es una anomalía congénita que consiste en un canal que conecta la aorta ascendente a la cavidad del ventrículo derecho. El diagnóstico se corrobora, en la mayoría de los casos, por ecocardiografía. El cierre quirúrgico se considera el tratamiento de elección y solo se han reportado dos casos previos en los que se ha logrado el cierre mediante intervencionismo. Se presenta el caso de una lactante con diagnóstico de túnel aorto-ventricular derecho, tratada por intervención percutánea con dispositivo de cierre percutáneo, que tuvo buena evolución clínica. La paciente, además, presentó un ductus permeable, el cual fue tratado en una segunda oportunidad por intervencionismo. La factibilidad de la técnica de cierre por procedimiento percutáneo y su baja tasa de complicaciones en comparación con el cierre por cirugía abierta pueden hacer de este el procedimiento de elección en la mayoría de los casos para esta infrecuente condición.


Abstract The aorto-right ventricular tunnel is a congenital anomaly that consists of a channel that connects the ascending aorta to the right ventricular cavity. The diagnosis is usually made by transthoracic echocardiography. Surgical closure is usually considered the treatment of choice and only two previous cases have been reported in which closure has been achieved by percutaneous intervention. We report a case of an infant with a diagnosis of aorto-right ventricular tunnel treated using a percutaneous device with good clinical evolution. The patient had also a patent ductus which was later treated by interventionism. The feasibility of the technique and its low rate of complications compared to the closure by open surgery can make it the procedure of choice in most cases for this rare condition.


Subject(s)
Humans , Aortico-Ventricular Tunnel , Heart Defects, Congenital
7.
Medicina (B.Aires) ; 81(2): 282-285, June 2021. graf
Article in English | LILACS | ID: biblio-1287281

ABSTRACT

Abstract Total anomalous pulmonary venous drainage is a rare and diverse anomaly, accounting for 1% to 3% of patients with congenital heart disease. Newborns with diagnosis of an obstructed total anomalous pulmonary venous dainage are extremely ill soon after birth and often present with severe cyanosis, pulmonary hypertension and low cardiac output requiring urgent surgical intervention. Transcatheter palliative stenting of the obstructive vertical vein can be an acceptable alternative as a bailout intervention before complete surgical correction is undertaken. This report of two cases highlights the feasibility, safety and effectiveness of the inter ventional palliative procedure and confirms that this technique can be an acceptable and attractive bridge in the algorithm of medical decisions during the evaluation of these critical patients.


Resumen El drenaje venoso pulmonar anómalo total es una enfermedad poco frecuente y de presentación diversa y se observa en el 1% a 3% de las cardiopatías congénitas. Si se asocia a obstrucción, se convierte en una afección grave en el recién nacido, mostrando cianosis intensa, hipertensión arterial pulmonar y bajo gasto cardíaco con indicación de intervención quirúrgica de urgencia. El implante de stent por cateterismo de forma paliativa para aliviar la obstrucción puede ser una alternativa aceptable de tratamiento como intervención de rescate antes de la corrección quirúrgica definitiva. Presentamos dos casos de intervención percutánea paliativa mostrando que esta técnica puede ser eficaz como puente al tratamiento quirúrgico definitivo para ser incorporado en la toma de decisiones de estos pacientes críticos.


Subject(s)
Humans , Infant, Newborn , Pulmonary Veins/surgery , Pulmonary Veins/diagnostic imaging , Heart Defects, Congenital , Hypertension, Pulmonary , Stents , Drainage
8.
Rev. colomb. cardiol ; 28(2): 146-152, mar.-abr. 2021. tab
Article in Spanish | LILACS, COLNAL | ID: biblio-1341276

ABSTRACT

Resumen Objetivo: Determinar las cardiopatías congénitas más diagnosticadas a través de cateterismo cardíaco en una población pediátrica de la costa norte colombiana durante el período de 2007 a 2016. Materiales y métodos: Estudio descriptivo, retrospectivo y multicéntrico, cuya población corresponde al total de pacientes de 0 a 18 años en quienes se realizó cateterismo cardíaco diagnóstico o terapéutico, o ambos, en diferentes ciudades de la costa norte colombiana en el período de 2007 a 2016. Para la tabulación de la información se utilizó el programa Epi Info 7.0. La muestra se integró con 4,245 pacientes. Resultados: El género predominante fue el femenino (53.5%), con una media de edad de 3.9 ± 4.9 años y una mayor prevalencia de 1 a 11 meses de vida (40.6%). Conclusiones: La comunicación interventricular fue la cardiopatía congénita más diagnosticada mediante cateterismo cardíaco (29.2%), seguida por el conducto arterioso persistente (23.1%), comunicación interauricular (11.7%), tetralogía de Fallot (6.8%), estenosis pulmonar (6.7%), transposición de grandes vasos (3.5%), atresia pulmonar con comunicación interventricular (2.5%), canal AV total (2.4%), doble salida ventricular derecha (2.4%), coartación de aorta (1%), insuficiencia mitral (0.98%), atresia tricuspídea (0.96%), atresia pulmonar sin comunicación interventricular (0.73%), doble salida ventricular derecha (0.5%) y otras malformaciones (4.2%).


Abstract Objective: To determine the most frequent congenital heart diseases diagnosed by cardiac catheterization in the pediatric population of the north coast of Colombia, during the period 2007 to 2016. Materials and methods: Descriptive, retrospective and multicentric study; the population corresponds to the total number of patients between 0 and 18 years of age in which diagnostic and therapeutic cardiac catheterization was performed in different cities of the Colombian north coast in the period 2007 to 2016. Epi Info 7.0 software was used for tabulation of information. Total sample was conformed of 4.245 patients. Results: The sex mostly involved was the female with 53.5%, a mean age of 3.9 ± 4.9 years, with a higher prevalence between 1 and 11 months of life with 40.6%. Conclusions: The ventricular septal defect was the most frequent congenital heart disease diagnosed by cardiac catheterization with 29.2%, followed in frequency by the persistent conducto with 23.1%, the atrial septal defect 11.7%, tetralogy of Fallot with 6.8%, pulmonary stenosis with 6.7%, transposition of large vessels 3.5%, pulmonary atresia with ventricular septal defect 2.5%, total AV channel 2.4%, double right ventricular outlet 2.4%, coarctation of aorta on 1 %, mitral insufficiency 0.98%, tricuspid atresia 0.96%, pulmonary atresia without ventricular septal defect 0.73%, double right ventricular outlet 0.5% and other malformations 4.2%.


Subject(s)
Humans , Female , Adult , Heart Defects, Congenital , Cardiac Catheterization , Cardiovascular Abnormalities
9.
Rev. colomb. cardiol ; 28(1): 102-103, ene.-feb. 2021.
Article in Spanish | LILACS, COLNAL | ID: biblio-1341268

ABSTRACT

Al editor: Hemos leído con sumo interés el artículo recientemente publicado en su revista por Ramírez-Escobar, et al., titulado "La pulsioximetría como herramienta para la tamización de cardiopatías congénitas críticas. Una revisión narrativa". A raíz de los datos señalados en los resultados del estudio quisiéramos realizar las siguientes puntualizaciones. En primer lugar, coincidimos con los autores en la importancia y la utilidad del uso de lo pulsioximetría como herramienta de tamizaje para la detección principalmente de cardiopatías congénitas críticas en neonatos, considerando que las cardiopatías congénitas son la malformación mayor más común que se presenta al nacimiento, con una incidencia cercana al 1 % de la población mundial (6 a 13 por 1.000 nacidos vivos), y de estas el 25 % son cardiopatías críticas, definidas como las condiciones que requieren cirugía o intervención en el primer año de vida1. Otro dato que queremos resaltar es que hoy en día no existen puntos de corte de hemoglobina para recién nacidos en altura, tema de suma importancia puesto que, como lo demuestra un estudio realizado en la Ciudad de México por Orosco A., et al., se encontró que el 4 % de niños tuvieron un tamizaje cardiológico falso-positivo, más alto que lo informado en la literatura, 0.14 %, motivo por el cual plantea que el algoritmo recomendado para el tamizaje cardiológico debe ser modificado antes de su aplicación masiva en ciudades de altura2. Además, según un estudio realizado por Wright, et al., las tasas de falla de detección de oximetría de pulso a altitud moderada son significativamente más altas que a nivel del mar; adicionalmente, también señala que se requieren estudios más grandes con algoritmos alternativos a altitudes moderadas3, por lo cual este tema abre nuevas prioridades en investigación en nuestro país.


Subject(s)
Oximetry , Heart Defects, Congenital , Mass Screening , Narration
10.
Rev. colomb. cardiol ; 28(1): 98-101, ene.-feb. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1341267

ABSTRACT

Resumen El origen anómalo de la arteria coronaria izquierda desde la arteria pulmonar o, por su sigla en inglés, síndrome de ALCAPA (Anomalous origin of the Left Coronary Artery from the Pulmonary Artery), también conocido como síndrome Bland-White-Garland es una rara cardiopatía congénita; sin embargo, es una de las causas más comunes de falla cardiaca, isquemia e infarto de miocardio en niños, que, en ausencia de tratamiento, alcanza una tasa de mortalidad del 35 al 85 % en el primer año de vida. Hay dos tipos de síndrome de ALCAPA, aquel que se presenta en infantes y el que ocurre en adultos. El segundo tipo es raro y puede manifestarse como infarto de miocardio, disfunción ventricular izquierda e insuficiencia mitral, o isquemia silente que podría llevar a muerte súbita. Se presenta el caso de una paciente de 30 años, con cardiopatía dilatada y disfunción ventricular severa, secundaria a síndrome de ALCAPA, y el caso de un paciente de 61 años con cuadro de dolor torácico en quien se documentó el mismo síndrome.


Abstract The anomalous origin of the left coronary artery from the pulmonary artery or its acronym ALCAPA syndrome (Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery), also known as Blande-Whitee-Garland syndrome, is a rare congenital heart disease. However, one of the most common causes of heart failure, ischemia and myocardial infarction in children, which in the absence of treatment, reaches a mortality rate of 35 to 85% in the first year of life. There are two types of ALCAPA syndrome, that occurs in infants and adults. The presentation of the second type is rare and can manifest as myocardial infarction, left ventricular dysfunction and mitral insufficiency, or silent ischemia that could lead to sudden death. We present the case of a 30-year-old patient with dilated cardiomyopathy and severe ventricular dysfunction, secondary to the ALCAPA syndrome, another case of a 61-year-old patient with chest pain where the mentioned syndrome was documented.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Bland White Garland Syndrome , Ventricular Dysfunction , Coronary Vessels , Heart Defects, Congenital , Mitral Valve Insufficiency
11.
Rev. colomb. cardiol ; 28(1): 74-79, ene.-feb. 2021. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1341263

ABSTRACT

Resumen El potasio es, sin lugar a duda, uno de los componentes más importantes del balance hidroelectrolítico, además de ser uno de los exámenes de laboratorio más solicitados en el ámbito clínico. La hipercalemia se define por un valor sérico mayor a 5.5 mEq/L y su principal diagnóstico diferencial es la pseudohipercalemia o hipercalemia espuria. Esta se define como elevación del potasio solo en componente sérico y no plasmático con una diferencia mínima de 0.5 mEq/L. Entre las causas de pseudohipercalemia se encuentran factores mecánicos, químicos, contaminantes, temperatura y tiempo de procesamiento de la muestra. Se reporta el caso de un paciente masculino de 22 años de edad, con antecedentes de cardiopatía cianosante, que cursa con elevación espuria de potasio en suero, con aumento aislado severo del hematocrito y trombocitopenia concomitante, que luego mostraría valores normales en plasma.


Abstract Potassium is, without a doubt, one of the most important components of hydroelectrolitic balance, as well as being one of the most requested laboratory exams in the clinical setting. Hyperkalemia is defined as serum value above 5.5 mEq/L, and its main differential diagnosis is pseudohyperkalemia or spurious hyperkalemia. This conditioned is defined as an elevation of potassium levels exclusively in serum and not in plasma, with a minimal difference of 0.5 mEq/L between these measurements. Some of the causes of pseudohyperkalemia include mechanical factors, chemicals, contaminants, temperature and the time of sample processing. It is reported the case of a 22-year-old male with history of cyanotic heart disease that presented with a spurious elevation of serum potassium, with a severe increment in hematocrit and concomitant thrombocytopenia, that would later show normal levels in plasma.


Subject(s)
Humans , Male , Young Adult , Polycythemia , Thrombocytopenia , Diagnosis, Differential , Heart Defects, Congenital
12.
Rev. colomb. cardiol ; 28(1): 53-59, ene.-feb. 2021. tab
Article in Spanish | LILACS, COLNAL | ID: biblio-1341260

ABSTRACT

Resumen Objetivo: Describir la prevalencia de las cardiopatías congénitas en dos hospitales de Cali entre 2011-2017. Método: Se realizó un estudio retrospectivo de una cohorte de 54.193 nacimientos en dos hospitales de Cali, que incluyó recién nacidos desde el 1.º de enero 2011 hasta el 31 de diciembre de 2017 captados en el programa de vigilancia y seguimiento de defectos congénitos. Inicialmente se hizo un análisis descriptivo de los pacientes con cardiopatías y luego se analizó la relación de algunas variables con un chi-cuadrado (C2) con una significancia de p-valor < 0,05. Resultados: La prevalencia en esta cohorte fue de 2,42 por 1.000 nacimientos. De los 131 pacientes con cardiopatías congénitas, 73 (55,73%) eran de sexo masculino; 91 (69,47%) nacieron con peso adecuado para la edad gestacional y 31 (23,66%) fueron pretérmino. De las madres, 30,53% se encontraban entre 25 y 29 años y 42% eran primigrávidas. Respecto a las cardiopatías congénitas, la más frecuente fue la comunicación interventricular con 52 (32,30%) casos; 105 (80,15%) tenían una sola cardiopatía congénita y 62 (47,33%) tenían cardiopatías aisladas. Las variables de peso para edad gestacional, edad materna y edad gestacional mostraron una relación estadísticamente significativa. Conclusiones: Las cardiopatías congénitas son de gran interés en salud pública dada su morbi-mortalidad y por ser causa de muerte en menores de un año en Colombia. Por lo tanto, se debe continuar trabajando en estrategias que mejoren su vigilancia, así como el diagnóstico prenatal, el tratamiento y el nivel de complejidad adecuado para cada paciente.


Abstract Objective: To describe the prevalence of congenital heart disease in two hospitals of Cali in between 2011 and 2017. Method: A retrospective study of a cohort of 54,193 births was carried out in two hospitals of Cali, which included newborns from January 1, 2011 to December 31, 2017, captured through the surveillance program and monitoring of birth defects. Initially, a descriptive analysis of patients with congenital heart disease was performed, and the association of some variables with a chi-square (C2) with a p-value significance <0.05. Results: The prevalence in this cohort was 2.42 x 1,000 births. Of the 131 patients with congenital heart disease, 73 (55.73%) were male; 91 (69.47%) were born with adequate weight for gestational age and 31 (23.66%) were preterm. Of the mothers, 30.53% were between 25 and 29 years old and 42% were primigravid. Regarding CC, the most frequent was interventricular communication with 52 (32.30%) cases; 105 (80.15%) had only one congenital heart disease and 62 (47.33%) had isolated heart disease. The variables of weight for gestational age, maternal age and gestational age, showed a statistically significant association. Conclusions: Congenital cardiopathy is of great interest in public health, given their morbi-mortality and as a cause of death in children under 1 year old in Colombia. Therefore, we must continue to work on strategies that improve surveillance, as well as prenatal diagnosis, treatment and the level of complexity appropriate to each patient.


Subject(s)
Humans , Male , Female , Infant, Newborn , Congenital Abnormalities , Heart Defects, Congenital , Infant, Premature , Infant, Very Low Birth Weight
13.
Rev. bras. cir. cardiovasc ; 36(1): 133-136, Jan.-Feb. 2021. tab, graf
Article in English | LILACS | ID: biblio-1155803

ABSTRACT

Abstract Infantile scimitar syndrome (SS) is a rare congenital heart disease and has high mortality. Guidelines have not been established, but surgery is indicated in symptomatic patients. Despite the various surgical approaches, outcomes continue to be disappointing. We present our surgical experience with an infantile SS patient who had stenotic pulmonary veins contralateral to the hypoplastic lung with complicated anatomy. There are few cases with this complex pathology in the literature. Moreover, our patient was the first transplant-free survivor with this complexity in the literature.


Subject(s)
Humans , Infant , Pulmonary Veins/surgery , Pulmonary Veins/diagnostic imaging , Scimitar Syndrome/surgery , Scimitar Syndrome/complications , Scimitar Syndrome/diagnostic imaging , Heart Defects, Congenital , Constriction, Pathologic , Stenosis, Pulmonary Vein/surgery , Stenosis, Pulmonary Vein/etiology , Stenosis, Pulmonary Vein/diagnostic imaging
14.
Article in Chinese | WPRIM | ID: wpr-879626

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.


Subject(s)
Blepharophimosis , Child , Congenital Hypothyroidism , Facies , Female , Heart Defects, Congenital , Histone Acetyltransferases/genetics , Humans , Intellectual Disability , Joint Instability , Mutation , Phenotype
15.
Article in Chinese | WPRIM | ID: wpr-879583

ABSTRACT

OBJECTIVE@#To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.@*METHODS@#Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.@*RESULTS@#Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.@*CONCLUSION@#Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 9 , Craniofacial Abnormalities , DNA Copy Number Variations , Female , Genetic Testing , Heart Defects, Congenital , Humans , Intellectual Disability/genetics , Mutation
16.
Article in Chinese | WPRIM | ID: wpr-879546

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation.@*METHODS@#Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis.@*RESULTS@#The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was predicted to be pathogenic by Mutation Taster. The patient was ultimately diagnosed with Marfan syndrome.@*CONCLUSION@#Above finding has enriched the spectrum of genetic variants associated with Marfan syndrome. WES has provided a powerful tool for the diagnosis of rare diseases.


Subject(s)
Child , Exons , Fibrillin-1/genetics , Heart Defects, Congenital , Humans , Marfan Syndrome/genetics , Mutation , Sequence Deletion , Whole Exome Sequencing
17.
Frontiers of Medicine ; (4): 91-100, 2021.
Article in English | WPRIM | ID: wpr-880951

ABSTRACT

Congenital heart disease (CHD) is the most common birth defect worldwide. Long non-coding RNAs (lncRNAs) have been implicated in many diseases. However, their involvement in CHD is not well understood. This study aimed to investigate the role of dysregulated lncRNAs in CHD. We used Gene Expression Omnibus data mining, bioinformatics analysis, and analysis of clinical tissue samples and observed that the novel lncRNA SAP30-2:1 with unknown function was significantly downregulated in damaged cardiac tissues from patients with CHD. Knockdown of lncRNA SAP30-2:1 inhibited the proliferation of human embryonic kidney and AC16 cells and decreased the expression of heart and neural crest derivatives expressed 2 (HAND2). Moreover, lncRNA SAP30-2:1 was associated with HAND2 by RNA immunoprecipitation. Overall, these results suggest that lncRNA SAP30-2:1 may be involved in heart development through affecting cell proliferation via targeting HAND2 and may thus represent a novel therapeutic target for CHD.


Subject(s)
Basic Helix-Loop-Helix Transcription Factors , Cell Proliferation , Heart Defects, Congenital/genetics , Histone Deacetylases , Humans , RNA, Long Noncoding/genetics , Transcription Factors
18.
Article in English | WPRIM | ID: wpr-880678

ABSTRACT

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.


Subject(s)
Abnormalities, Multiple , Child , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Humans , Mutation , Proto-Oncogene Proteins B-raf/genetics
19.
Article in Chinese | WPRIM | ID: wpr-879892

ABSTRACT

OBJECTIVE@#To study the association between maternal reduced folate carrier (@*METHODS@#A hospital-based case-control study was conducted. The mothers of 683 infants with CHD who attended the Department of Cardiothoracic Surgery, Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group. The mothers of 740 healthy infants without any deformity who attended the hospital during the same period of time were enrolled as the control group. A questionnaire survey was performed to collect the exposure data of subjects. Venous blood samples of 5 mL were collected from the mothers for genetic polymorphism detection. A multivariate logistic regression analysis was used to evaluate the association of @*RESULTS@#After control for confounding factors, the multivariate logistic regression analysis showed that maternal @*CONCLUSIONS@#Maternal


Subject(s)
Case-Control Studies , Child , Female , Genetic Predisposition to Disease , Genotype , Heart Defects, Congenital/genetics , Humans , Infant , Polymorphism, Single Nucleotide , Reduced Folate Carrier Protein/genetics , Risk Factors
20.
Article in Chinese | WPRIM | ID: wpr-879813

ABSTRACT

OBJECTIVE@#To study the effect of calorie-enriched formula on postoperative catch-up growth in infants with cyanotic congenital heart disease (CHD).@*METHODS@#A total of 100 infants with cyanotic CHD who underwent surgical operation from January to December, 2017, were randomly divided into a high-calorie group (receiving calorie-enriched formula after surgery) and a conventional group (receiving standard formula after surgery), with 50 infants in each group. All infants were followed up for 6 months. The observation indices included body height, body weight, prealbumin, and N-terminal pro-brain natriuretic peptide before surgery, at the time of ventilator weaning and extubation after surgery, and at 1, 3, and 6 months after surgery. Height-for-age Z-score (HAZ), weight-for-age Z-score (WAZ), and weight-for-height Z-score (WHZ) were also assessed. Adverse reactions were recorded for both groups.@*RESULTS@#There were 25 cases (50%) and 21 cases (42%) of malnutrition in the high-calorie group and the conventional group respectively before surgery (@*CONCLUSIONS@#Compared with the standard formula, calorie-enriched formula can better help with postoperative catch-up growth in infants with cyanotic CHD.


Subject(s)
Body Weight , Energy Intake , Heart Defects, Congenital/surgery , Humans , Infant , Malnutrition , Nutritional Status , Prospective Studies
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