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Rev. bras. cir. cardiovasc ; 36(1): 48-56, Jan.-Feb. 2021. tab, graf
Article in English | LILACS | ID: biblio-1155787


Abstract Objective: To evaluate the efficacy of hybrid transthoracic periventricular device closure of ventricular septal defects (VSDs) in a single center. Methods: All patients who underwent hybrid transthoracic periventricular device closure of VSDs between January 2018 and December 2019 were retrospectively analyzed. The preoperative, operative and postoperative findings and clinical follow-ups were reviewed. Results: A total of 59 patients underwent the procedure. Transesophageal echocardiographic guidance was used in all procedures. The procedure was successful in 57 procedures (97%). The procedures of two patients were changed to open-heart surgery during the same intervention due to severe aortic insufficiency (the device was not deployed) and significant residual shunt after device deployment. One major complication (1.7%) was observed after the procedure. The patient's device was dislodged within 12 hours after the procedure, and this patient underwent device extraction and VSD patch closure due to significant residual shunt. Eight (14%) minor complications were observed after the procedure, and three of them persisted during follow-up. Three of these eight complications were incomplete right bundle branch block, one of which resolved during follow-up; two were mild residual shunts, one of which resolved during follow-up; two were mild new-onset tricuspid valve insufficiencies; and one was mild new-onset mitral valve insufficiency; all valvular insufficiencies were resolved during follow-up. Conclusions: Hybrid transthoracic periventricular device closure of VSD seems to be a good alternative approach due to its procedural success and low risk rates. The best advantage of the procedure is the possibility of switching to open-heart surgery, if necessary.

Humans , Male , Female , Infant , Septal Occluder Device , Heart Septal Defects, Ventricular/surgery , Heart Septal Defects, Ventricular/diagnostic imaging , Cardiac Catheterization , Retrospective Studies , Follow-Up Studies , Treatment Outcome , Echocardiography, Transesophageal
Rev. Pesqui. (Univ. Fed. Estado Rio J., Online) ; 13: 717-723, jan.-dez. 2021. ilus, tab
Article in English, Portuguese | LILACS, BDENF | ID: biblio-1178355


Objetivo: Analisar características clínico-epidemiológicas de crianças portadoras de cardiopatia congênita residentes do município de Rio das Ostras referenciadas para unidades especializadas no estado do Rio de Janeiro. Método: Pesquisa descritiva, transversal realizada em duas unidades hospitalares no município do Rio de Janeiro, através da técnica documental retrospectiva por meio de dados nos prontuários. A coleta ocorreu entre setembro de 2018 a fevereiro de 2019. Resultados: Foram analisados 48 prontuários, com maior proporção entre os escolares (33,3%); do sexo masculino (58,3%); Em relação as cardiopatias, verificou-se com maior proporção as acianóticas (62,5%); destacando a comunicação interatrial com (14,6%); seguida da comunicação interventricular (12,5%) e coarctação da aorta (12,5%). Conclusão: A identificação dessas crianças no município de Rio das Ostras e a distribuição destas pelo território nacional são informações imprescindíveis para o planejamento e implementação de programas e políticas públicas que atendam as reais demandas deste segmento populacional

Objetivo: Analizar las características clínicas y epidemiológicas de los niños con cardiopatía congénita que viven en la ciudad de Rio das Ostras remitidos a unidades especializadas en el estado de Río de Janeiro. Método: Investigación descriptiva, transversal realizada en dos hospitales de la ciudad de Río de Janeiro, a través de una técnica documental retrospectiva a través de datos en registros médicos. La recolección se realizó entre septiembre de 2018 y febrero de 2019. Resultados: Se analizaron 48 registros médicos, con una mayor proporción entre los estudiantes (33.3%); hombre (58,3%); Con respecto a la enfermedad cardíaca, hubo una mayor proporción de acianóticos (62.5%); destacando la comunicación interauricular con (14,6%); seguido de comunicación interventricular (12.5%) y coartación aórtica (12.5%). Conclusión: La identificación de estos niños en la ciudad de Rio das Ostras y su distribución en todo el territorio nacional son información esencial para la planificación e implementación de programas y políticas públicas que satisfagan las demandas reales de este segmento de la población

Objective: To analyze the clinical and epidemiological characteristics of children with congenital heart disease living in the city of Rio das Ostras referred to specialized units in the state of Rio de Janeiro. Method: Descriptive, cross-sectional research conducted in two hospitals in the city of Rio de Janeiro, through retrospective documentary technique through data in medical records. The collection took place between September 2018 and February 2019. Results: 48 medical records were analyzed, with a higher proportion among students (33.3%); male (58.3%); Regarding heart disease, there was a greater proportion of acyanotic (62.5%); highlighting interatrial communication with (14.6%); followed by interventricular communication (12.5%) and aortic coarctation (12.5%). Conclusion: The identification of these children in the city of Rio das Ostras and their distribution throughout the national territory are essential information for the planning and implementation of programs and public policies that meet the real demands of this population segment

Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Young Adult , Health Policy , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/epidemiology , Aortic Coarctation , Heart Septal Defects, Atrial , Heart Septal Defects, Ventricular
Rev. bras. cir. cardiovasc ; 35(5): 660-655, Sept.-Oct. 2020. tab
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1137323


Abstract Objective: The aim of this study was to evaluate whether sufentanil can reduce emergence delirium in children undergoing transthoracic device closure of ventricular septal defect (VSD) after sevoflurane-based cardiac anesthesia. Methods: From February 2019 to May 2019, 68 children who underwent transthoracic device closure of VSD at our center were retrospectively analyzed. All patients were divided into two groups: 36 patients in group S, who were given sufentanil and sevoflurane-based cardiac anesthesia, and 32 patients in group F, who were given fentanyl and sevoflurane-based cardiac anesthesia. The following clinical data were recorded: age, sex, body weight, operation time, and bispectral index (BIS). After the children were sent to the intensive care unit (ICU), pediatric anesthesia emergence delirium (PAED) and face, legs, activity, cry, consolability (FLACC) scale scores were also assessed. The incidence of adverse reactions, such as nausea, vomiting, drowsiness and dizziness, was recorded. Results: There was no significant difference in age, sex, body weight, operation time or BIS value between the two groups. Extubation time (min), PEAD score and FLACC scale score in group S were significantly better than those in group F (P<0.05). No serious anesthesia or drug-related side effects occurred. Conclusions: Sufentanil can be safely used in sevoflurane-based fast-track cardiac anesthesia for transthoracic device closure of VSD in children. Compared to fentanyl, sufentanil is more effective in reducing postoperative emergence delirium, with lower analgesia scores and greater comfort.

Humans , Male , Female , Child , Anesthetics, Inhalation , Emergence Delirium , Anesthesia, Cardiac Procedures , Heart Septal Defects, Ventricular/surgery , Adjuvants, Anesthesia/therapeutic use , Methyl Ethers , Retrospective Studies , Sufentanil/therapeutic use , Sevoflurane
Rev. bras. cir. cardiovasc ; 35(4): 593-596, July-Aug. 2020. tab, graf
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1137291


Abstract The standard treatment of transposition of the great arteries is the arterial switch operation (ASO). Despite successful surgical correction, patients cannot tolerate extubation after the operation. Major aortopulmonary collaterals (MAPCAs) are one of the rare causes of prolonged mechanical ventilation due to significant hemodynamic effects. We report a 28-day-old newborn with transposition of the great arteries and a ventricular septal defect (VSD) who underwent ASO and VSD closure. After postoperative extubation failed twice, four large MAPCAs were revealed during heart catheterization. After transcatheter closure of these four MAPCAs, the patient was extubated and discharged 27 days after the procedure.

Humans , Infant, Newborn , Transposition of Great Vessels/surgery , Arterial Switch Operation/adverse effects , Heart Septal Defects, Ventricular/surgery , Retrospective Studies , Treatment Outcome , Airway Extubation
Rev. bras. cir. cardiovasc ; 35(3): 254-264, May-June 2020. tab, graf
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1137274


Abstract Objective: Description of adult congenital heart disease (CHD) outpatient characteristics has not been reported and several aspects regarding these patients require attention. We describe the 12-year experience of a Brazilian unit. Methods: The main characteristics of 1168 patients were reviewed annotating for each patient age, gender, city of residence, main diagnosis, functional class at last examination, defect complexity and in-hospital referral pattern. Results: Increasing workload was documented. Among the CHD patients, 663 (57%) were between 14 and 30 years old and 920 (79%) lived in the referral region. Referrals were made by hospital cardiologists for 611 (52%) patients, while 519 (45%) were referred by pediatric cardiologists. Regarding CHD severity, 637 (55%) had a defect of mild complexity. Of the patients analyzed, 616 (53%) had undergone an intervention, mainly atrial septal defect (ASD) closure, correction of tetralogy of Fallot, ventricular septal defect (VSD) closure and relief of coarctation of the aorta (CoAo). The main diagnosis of the 552 (47%) patients not submitted to an intervention were ASD, VSD, aortic stenosis, complex CHD and pulmonary stenosis. Regarding functional class, 1016 (87%) were in class I and 280 (24%) were lost to follow-up. Seventy-three patients had died, mainly due to cardiac death. Conclusion: In a unit were complex pediatric congenital heart surgery started twenty years ago, an increasing adult CHD workload was documented. Referral came predominantly from cities around the unit, most patients had low complexity defects and were in functional class I, a significant loss of follow-up was documented, and the death of patients was mainly due to the heart defect.

Humans , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Heart Defects, Congenital , Heart Septal Defects, Ventricular , Outpatients , Brazil , Ambulatory Care Facilities
Rev. bras. cir. cardiovasc ; 35(3): 323-328, May-June 2020. tab
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1137257


Abstract Objective: To assess the effectiveness and safety of fast-track cardiac anesthesia using the short-acting opioid sufentanil in children undergoing intraoperative device closure of ventricular septal defect (VSD). Methods: This retrospective clinical study included 65 children who underwent intraoperative device closure of VSD between January 2017 and June 2017. Patients were diagnosed with isolated perimembranous VSD by transthoracic echocardiography. Then, they were divided into two groups, group F (n=30), whose patients were given sufentanil-based fast-track cardiac anesthesia, and group C (n=35), whose patients were given conventional cardiac anesthesia. Perioperative clinical data were analyzed. Results: No significant differences were found between the preoperative clinical parameters and intraoperative hemodynamic indices between the two groups. In group C, compared with group F, the postoperative duration of mechanical ventilation, the length of stay in the intensive care unit, the length of hospital stay, and the hospital costs were significantly increased. Conclusion: In this retrospective study at a single center, sufentanil-based fast-track cardiac anesthesia was shown to be a safe and effective technique for minimally-invasive intraoperative device closure of VSD in children, which was performed with reduced in-hospital costs.

Humans , Male , Female , Infant , Child, Preschool , Septal Occluder Device , Anesthesia, Cardiac Procedures , Heart Septal Defects, Ventricular/surgery , Heart Septal Defects, Ventricular/diagnostic imaging , Cardiac Surgical Procedures , Cardiac Catheterization , Retrospective Studies , Treatment Outcome , Sufentanil
Arq. bras. med. vet. zootec. (Online) ; 72(3): 807-813, May-June, 2020. ilus, tab
Article in Portuguese | LILACS, VETINDEX | ID: biblio-1129483


O desenvolvimento de novas ferramentas, como a ecocardiografia bidimensional feature tracking (2D-FTI), permite diagnosticar, de forma precoce, se há disfunção miocárdica em doenças cardíacas, inclusive as congênitas. O defeito septal ventricular (DSV) é a alteração congênita mais observada em felinos, no entanto pouco se sabe sobre a disfunção cardíaca nessa cardiopatia, especialmente em animais assintomáticos. O objetivo deste estudo foi avaliar, por meio do 2D-FTI, a deformação miocárdica ventricular esquerda pela mensuração dos índices ecocardiográficos strain (St) e strain rate (StR) radial, circunferencial e longitudinal, em gatos saudáveis e com DSV. Foram avaliados 12 gatos saudáveis e seis gatos com DSV para obtenção de St e StR em diversos segmentos miocárdicos. No sentido longitudinal, houve diferença estatística (P<0,05) para os segmentos septal basal, mediano e apical epicárdicos (P=0,0017; P<0,0001; P=0,0288), lateral mediano epicárdico (P=0,0327), septal mediano endocárdico (P=0,0035), lateral mediano endocárdico (P=0,0461), St epicárdico (P=0,0250) e St global (P=0,0382). Também houve diferença no segmento lateral mediano circunferencial endocárdico (P=0,0248), lateral mediano radial (St: P=0,0409; StR: P=0,0166) e posterior mediano radial (P=0,0369). O estudo evidenciou que, mesmo em animais assintomáticos com DSV, há redução na deformação miocárdica ventricular principalmente no sentido longitudinal, demonstrando maior vulnerabilidade dessas fibras.(AU)

The development of new tools, such as two-dimensional feature tracking (2D-FTI), allows early diagnosis of myocardial dysfunction in heart diseases including congenital heart disease. The ventricular septal defect (VSD) is the most frequently observed congenital abnormality in cats, however, little is known about cardiac dysfunction, especially in asymptomatic animals. The objective of this study was to evaluate the left ventricular myocardial deformation through 2D-FTI by the measurement of the radial, circumferential and longitudinal echocardiographic strain (St) and strain rate (StR) indices. Twelve healthy cats and six cats with VSD were evaluated to obtain St and StR in several myocardial segments. In the longitudinal direction, there was a statistical difference (P<0.05) for the epimyocardial basal septal, mid-septal, apical septal (P=0.0017; P<0.0001; P=0.0288), epimyocardial mid-lateral (P=0.0327), endomyocardial mid-septal (P=0.0035), endomyocardial mid-lateral (P=0.0461), St epimyocardial (P=0.0250) and St global (P=0.0382). There was also difference in the circumferential endomyocardial mid-lateral segment (P=0.0248), radial mid-lateral (St: P=0.0409; StR: P=0.0166) and radial mid-posterior (P=0.0369). The study showed that even in asymptomatic animals with VSD there is a reduction in ventricular myocardial deformation mainly in the longitudinal direction, demonstrating the fragility of these fibers.(AU)

Animals , Cats , Heart Defects, Congenital/veterinary , Heart Septal Defects, Ventricular/veterinary , Heart Septal Defects, Ventricular/diagnostic imaging , Echocardiography/veterinary
Arch. argent. pediatr ; 118(1): e22-e25, 2020-02-00. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1095684


La endocarditis infecciosa es infrecuente pero potencialmente mortal. Las presentaciones atípicas retrasan el diagnóstico. El compromiso neurológico es habitual en la endocarditis de la válvula mitral, aunque infrecuente en la endocarditis de la válvula tricúspide. Si bien se han informado algunos casos e el del lado derecho con síntomas neurológicos en adultos, en la bibliografía no se ha descripto en niños. Se presenta una niña de 9 años con comunicación interventricular (CIV) congénita con fiebre, cefalea y rigidez de nuca. Sus síntomas clínicos y los hallazgos en el líquido cefalorraquídeo respaldaron el diagnóstico de meningitis aséptica. El día 3 del tratamiento con ceftriaxona, se resolvieron los síntomas; tras nueve días, reingresó con fiebre y rigidez de nuca. Un ecocardiograma mostró endocarditis de la válvula tricúspide. Recibió tratamiento antibiótico durante 6 semanas. Se realizó una cirugía cardíaca para la CIV y la insuficiencia de la válvula tricúspide.

Infective endocarditis (IE) is a rare but a potentially life-threatening infectious disease. Atypical presentations cause delays in the diagnosis. Neurological involvement such as meningitis or meningismus, are especially common in mitral valve endocarditis, but unusual in tricuspid valve endocarditis. Although few cases of right-sided IE have been reported with neurological symptoms in adults, children have not been described in literature. A nine-year-old girl with congenital ventricular septal defect (VSD) was admitted with fever, headache and neck stiffness. Her clinical symptoms and cerebrospinal fluid findings supported the aseptic meningitis. On ceftriaxone therapy day 3, her complaints were resolved; nine days later she was admitted with fever and neck stiffness again. Further investigation for fever source with echocardiogram revealed a tricuspid valve endocarditis. Antibiotic therapy was completed after 6 weeks. Cardiac surgery was performed for VSD and tricuspid valvular insufficiency.

Humans , Female , Child , Tricuspid Valve Insufficiency , Endocarditis/diagnostic imaging , Meningitis, Aseptic/cerebrospinal fluid , Staphylococcus aureus , Heart Septal Defects, Ventricular
Rev. bras. cir. cardiovasc ; 35(1): 117-119, Jan.-Feb. 2020. tab, graf
Article in English | LILACS | ID: biblio-1092476


Abstract Congenital mitral valve stenosis is a rare and severe disease, usually associated with other heart defects. The appropriate intervention depends on the site and mechanism of valvular obstruction and the aim is to avoid or delay valve replacement since it is associated with significant morbidity and mortality. Early single-stage complete repair is associated with better prognosis. We report the case of a 20-month-old child with a supravalvar mitral ring combined with a ventricular septal defect; pulmonary arterial systolic pressure before the surgery was 79 mmHg. The patient underwent a successful surgical repair with good clinical resolution.

Humans , Infant , Heart Defects, Congenital , Heart Septal Defects, Ventricular , Mitral Valve Stenosis , Prognosis , Systole
Rev. Assoc. Med. Bras. (1992) ; 65(6): 786-790, June 2019. tab, graf
Article in English | LILACS | ID: biblio-1012975


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.

Humans , Tetralogy of Fallot/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics , AMP-Activated Protein Kinases/genetics , DNA Copy Number Variations , Heart Septal Defects, Ventricular/genetics , Reference Values , Case-Control Studies , Genetic Association Studies , Real-Time Polymerase Chain Reaction
Rev. bras. cir. cardiovasc ; 34(3): 344-351, Jun. 2019. tab, graf
Article in English | LILACS | ID: biblio-1013473


Abstract Objectives: To compare the advantages and disadvantages of perventricular and percutaneous procedures for treating isolated ventricular septal defect (VSD). Methods: A total of 572 patients with isolated VSD were selected in our hospital between January 2015 and December 2016. The patients' median age and weight were five years (1-26 years) and 29 kg (9-55 kg), respectively. The median diameter of VSD was 6.0 mm (5-10 mm). Patients were divided into two groups. In group A, perventricular device closure was performed in 427 patients; in group B, 145 patients underwent percutaneous device closure. Results: Four hundred twelve patients in group A and 135 patients in group B underwent successful closure. The total occlusion rate was 98.5% (immediately) and 99.5% (3-month follow-up) in group A, which were not significantly different from those in group B (97.7% and 100%, respectively). Patients in group A had longer intensive care unit (ICU) stay than those in group B, but patients in group B experienced significantly longer operative times than those in group A. The follow-up period ranged from 8 months to 1.5 year (median, 1 year). During the follow-up period, late-onset complete atrioventricular block occurred in two patients. No other serious complications were noted in the remaining patients. Conclusion: Both procedures are safe and effective treatments for isolated VSD. The percutaneous procedure has obvious advantages of shorter ICU stay and less trauma than the perventricular procedure. However, the perventricular procedure is simpler to execute, results in a shorter operative time, and avoids X-ray exposure.

Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Adult , Young Adult , Septal Occluder Device/standards , Heart Septal Defects, Ventricular/surgery , Aortic Valve Insufficiency/surgery , Time Factors , Angiography/methods , Echocardiography/methods , Retrospective Studies , Treatment Outcome , Statistics, Nonparametric , Equipment Design , Atrioventricular Block/surgery , Operative Time , Heart Septal Defects, Ventricular/diagnostic imaging , Cardiac Surgical Procedures/instrumentation , Cardiac Surgical Procedures/methods , Length of Stay
Rev. bras. cir. cardiovasc ; 34(3): 335-343, Jun. 2019. tab
Article in English | LILACS | ID: biblio-1013465


Abstract Objective: To reveal the risk factors that can lead to a complicated course and an increased morbidity in patients < 1 year old after surgical ventricular septal defect (VSD) closure. Methods: We reviewed a consecutive series of patients who were admitted to our institution for surgical VSD closure who were under one year of age, between 2015 and 2018. Mechanical ventilation (MV) time > 24 hours, intensive care unit (ICU) stay longer than three days, and hospital stay longer than seven days were defined as "prolonged". Unplanned reoperation, complete heart block requiring a permanent pacemaker implantation, sudden circulatory arrest, and death were considered as significant major adverse events (MAE). Results: VSD closure was performed in 185 patients. The median age was five (1-12) months. There was prolonged MV time in 54 (29.2%) patients. Four patients (2.2%) required permanent pacemaker implantation. Hemodynamically significant residual VSD was observed in six (3.2%) patients. Extracorporeal membrane oxygenation-cardiopulmonary resuscitation was performed in one (0.5%) patient. Small age (< 4 months) (P-value<0.001) and prolonged cardiopulmonary bypass time (P=0.03) were found to delay extubation and to prolong MV time. Low birth weight at the operation was associated with MAE (P=0.03). Conclusion: Higher body weight during operation had a reducing effect on the MAE frequency and shortened the MV duration, ICU stay, and hospital stay. As a conclusion, for patients who are scheduled to undergo VSD closure, body weight should be taken into consideration.

Humans , Male , Female , Pregnancy , Infant , Postoperative Complications/etiology , Wound Closure Techniques/adverse effects , Heart Septal Defects, Ventricular/surgery , Time Factors , Body Weight , Cardiopulmonary Bypass/methods , Retrospective Studies , Risk Factors , Age Factors , Statistics, Nonparametric , Intensive Care Units , Length of Stay
Med. infant ; 26(2): 92-98, Junio 2019. tab, ilus
Article in Spanish | LILACS | ID: biblio-1009182


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)

Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Chromosomes, Human, Pair 22/genetics , Chromosome Deletion , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/genetics , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Tetralogy of Fallot/etiology , Tetralogy of Fallot/genetics , Cross-Sectional Studies , Retrospective Studies , Heart Defects, Congenital/surgery , Heart Septal Defects, Ventricular/etiology , Heart Septal Defects, Ventricular/genetics
S. Afr. j. child health (Online) ; 13(2): 56-62, 2019. ilus
Article in English | AIM, AIM | ID: biblio-1270359


Background. Intraventricular haemorrhage (IVH) is a serious complication in infants with a low birth weight (LBW). Objective. To study the prevalence, severity and outcomes of IVH in LBW infants admitted to a neonatal intensive care unit (NICU). Methods. This was a retrospective cohort study of LBW infants admitted to the NICU at a quarternary hospital between January and December 2012. Neonates with recorded cranial ultrasound scans were included and followed up to between 18 and 24 months of age for neurological outcomes. Results. An overall IVH prevalence of 44.3% (95% confidence interval 40 - 50) was observed in the study population (N=210). The prevalence of IVH in infants with a very low birth weight (VLBW) was 67.0%. Multivariable logistic regression showed risk factors for IVH to be VLBW, extreme prematurity, exposure to HIV, outborn delivery and receipt of a blood transfusion. Moderate to severe IVH was more common in VLBW and extremely premature infants. Severe IVH was associated with high mortality. At follow-up, 18.8% of the subjects showed signs of neurodevelopmental delay, while 6.3% were diagnosed with epilepsy. The overall all-cause mortality rate was 15.7% at discharge. Mothers' antenatal clinic attendance and caesarean delivery were protective factors. Conclusion. Improved perinatal care for women in preterm labour, especially in rural areas in South Africa, could lead to better outcomes in infants. A screening schedule could contribute to timeous detection of brain injury in at-risk babies to facilitate appropriate medical management and detection of lesions associated with adverse long-term neurodevelopmental outcomes

Cerebral Intraventricular Hemorrhage , Heart Septal Defects, Ventricular , Infant, Low Birth Weight , Infant, Premature , Prevalence , South Africa