Clinical Characteristics and Outcomes in Adults With Moderate-to-Severe Complexity Congenital Heart Disease Undergoing Palliation or Surgical Repair.

Background: Congenital heart disease (CHD) survival rate has improved dramatically due to advances in diagnostic and therapeutic techniques. However, concerning the unrepaired CHD population of moderate and severe complexity, the data regarding risk predictors and surgical outcomes are scarce. Our aim was to describe the surgical results and predictors of in-hospital outcomes in adult patients with moderate-to-severe complexity CHD that were not repaired in childhood. Methods: We conducted a retrospective cohort study that included 49 adult patients with moderate-to-complex CHD who were treated in a single medical centre. Clinical and echocardiographic variables were obtained on admission, after surgical procedures and during follow-up. Results: Most of the patients were female (66%). Left ventricular ejection fraction and right ventricular outflow tract fractional shortening were within the normal range. The median pulmonary artery systolic pressure was 37 (27-55) mm Hg. The median time was 118 (80-181) minutes for extracorporeal circulation and 76 (49-121) minutes for aortic cross-clamping. The most frequent complication was postoperative complete atrioventricular block (12.2%). In-hospital survival rate was 87.7%. The development of low cardiac output syndrome with predominant right ventricle failure in the postoperative period was the most important predictor of in-hospital death (P = 0.03). Conclusions: Deciding to treat adults with CHD is challenging in moderate and severe unrepaired cases. Adequate clinical, functional, and imaging evaluation is essential to determine each patient's suitability for surgical management and to achieve the best clinical outcome for this population.

Contexte: Grâce aux avancées réalisées en matière de techniques diagnostiques et thérapeutiques, la survie des patients atteints d'une cardiopathie congénitale s'est considérablement améliorée. Cependant, en ce qui concerne les personnes atteintes d'une cardiopathie congénitale non corrigée présentant une complexité modérée ou extrême, les données portant sur les facteurs de risque prédictifs ainsi que sur les résultats chirurgicaux sont rares. Notre objectif était de décrire les résultats chirurgicaux ainsi que les facteurs prédictifs des résultats obtenus en milieu hospitalier chez les patients adultes atteints d'une cardiopathie congénitale présentant une complexité modérée ou extrême qui n'a pas été corrigée pendant l'enfance. Méthodologie: Nous avons mené une étude de cohorte rétrospective comprenant 49 patients adultes atteints d'une cardiopathie congénitale modérée ou complexe qui ont reçu leurs traitements dans un seul centre médical. Les variables cliniques et échocardiographiques ont été obtenues au moment de l'admission, après les interventions chirurgicales et pendant la période de suivi. Résultats: Les patients étaient en majorité des femmes (66 %). La fraction d'éjection du ventricule gauche ainsi que la fraction de raccourcissement de la voie d'éjection ventriculaire droite sont demeurées dans les limites de la normale. La pression systolique médiane de l'artère pulmonaire a été de 37 mmHg (27-55 mmHg). Le temps médian écoulé pour la circulation extracorporelle a été de 118 minutes (80-181 minutes) et pour le clampage de la crosse aortique, de 76 minutes (49-121 minutes). Le bloc auriculo-ventriculaire postopératoire complet a été la complication la plus fréquente (12,2 %). Le taux de survie en milieu hospitalier a été de 87,7 %. Le développement du syndrome du faible débit cardiaque accompagné d'une insuffisance prédominante du ventricule droit durant la période postopératoire a constitué le principal facteur prédictif de décès à l'hôpital (p = 0,03). Conclusion: Il est difficile de traiter les adultes qui présentent une cardiopathie congénitale modérée ou sévère non corrigée. Il est essentiel que les évaluations cliniques, fonctionnelles et par imagerie soient réalisées de façon adéquate pour déterminer si une prise en charge chirurgicale convient aux patients et pour garantir les meilleurs résultats cliniques chez ces derniers.

Epigenetic Evaluation of the TBX20 Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects.

The TBX20 gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). The purpose of this study was to assess the association between DNA methylation status and congenital septal defects. The DNA methylation of seven CpG sites in the TBX20 gene promoter was analyzed through pyrosequencing as a quantitative method in 48 patients with congenital septal defects and 104 individuals with patent ductus arteriosus (PDA). The average methylation was higher in patients than in PDA (p < 0.001). High methylation levels were associated with a higher risk of congenital septal defects (OR = 4.59, 95% CI = 1.57-13.44, p = 0.005). The ROC curve analysis indicated that methylation of the TBX20 gene could be considered a risk marker for congenital septal defects (AUC = 0.682; 95% CI = 0.58-0.77; p < 0.001). The analysis of environmental risk factors in patients with septal defects and PDA showed an association between the consumption of vitamins (OR = 0.10; 95% CI = 0.01-0.98; p = 0.048) and maternal infections (OR = 3.10; 95% CI = 1.26-7.60; p = 0.013). These results suggest that differences in DNA methylation of the TBX20 gene can be associated with septal defects.

DNA Methylation Levels of the TBX5 Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients.

The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the TBX5 gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the TBX5 gene promoter were evaluated using pyrosequencing analysis in 35 patients with congenital septal defects and 48 controls. Average methylation levels were higher in individuals with congenital septal defects than in the controls (p < 0.004). In five CpG sites, we also found higher methylation levels in patients than in the controls (p < 0.05). High methylation levels were associated with congenital septal defects (OR = 3.91; 95% CI = 1.02-14.8; p = 0.045). The analysis of Receiver Operating Characteristic (ROC) showed that the methylation levels of the TBX5 gene could be used as a risk marker for congenital septal defects (AUC = 0.68, 95% CI = 0.56-0.80; p = 0.004). Finally, an analysis of environmental factors indicated that maternal infections increased the risk (OR = 2.90; 95% CI = 1.01-8.33; p = 0.048) of congenital septal defects. Our data suggest that a high DNA methylation of the TBX5 gene could be associated with congenital septal defects.

Cierre transcatéter de la ventana aortopulmonar. ¿Vale la pena un método de cierre alternativo a la cirugía? / Transcatheter device closure of aortopulmonary window. Is there a need for an alternative strategy to surgery?

No disponible

Outcomes of Delayed Sternal Closure in Pediatric Heart Surgery: Single-Center Experience.

BACKGROUND: Delayed sternal closure (DSC) after cardiac surgery is a therapeutic option in the treatment of the severely impaired heart in pediatric cardiac surgery. METHODS: A single-center retrospective review of all bypass surgeries performed over a 10-year period (2003-2012). RESULTS: Of a total of 2325 patients registered in our database, the DSC group included 259 cases (11%), and the remaining 2066 cases (89%) constituted the control group (PSC). RACHS-1 risk was higher for the DSC group (74% had a score of 3 or 4) than for the PSC group (82% had a score of 2 or 3). The most frequent diagnosis for the DSC group was transposition of the great arteries (28%). We found out that hemodynamic instability was the main indication observed in patients aged ≤ 8 years (63%), while bleeding was the principal indication for patients aged ≥ 8 years (94%) (p ≤ 0.001). The average time between surgery and sternal closure was 2.3 ± 1.4 days. Overall mortality rates were higher for patients of the DSC group (22%) than for the PSC group (8.7%) (OR: 0.4 (95% CI: 0.4 to 0.5), p < 0.05). There were six patients with DSC who developed mediastinitis (2.3%). The risk of mediastinitis was significantly higher when DSC was performed 4 days after the primary surgery. CONCLUSIONS: DSC is an important management strategy for congenital cardiac surgery in infants and children. The prolonged sternal closure time is associated with an increased rate of postoperative mediastinitis.

Estimulación endocárdica de niños con peso inferior a 10 kilogramos / Endocardial pacing in infants and young children weighing less than 10 kilograms

No disponible

Common Arterial Trunk Repair by Means of a Handmade Bovine Pericardial-Valved Woven Dacron Conduit.

BACKGROUND: Surgical repair of common arterial trunk (CAT) by means of a homograft conduit has become a standard practice. We report our experience in the correction of this heart disease with a handmade bovine pericardial-valved woven Dacron conduit as an alternative procedure to homografts, with a focus on early, mid-term, and long-term results. METHODS: We designed a retrospective study that included 15 patients with a mean age of 1.5 years (range: three months to eight years), who underwent primary repair of simple CAT. Right ventricular outflow tract was reconstructed in all the cases with this handmade graft that was explanted at the time of its biological stenotic degeneration. A peeling procedure was performed at this time, in order to reconstruct the right ventricle-to-pulmonary artery continuity. RESULTS: Overall mortality was 13.3% (one death at the early postoperative primary repair and the other at the mid-term postoperative peeling reoperation). Actuarial survival rate was 93.3%, 86.7%, and 86.7% at 5, 10, and 15 years, respectively. All of the 14 survivors developed stenosis of the handmade conduit at the mid-term period (8 ± 3 years), but after the peeling procedure, 13 survivors remain asymptomatic to date. CONCLUSIONS: Primary repair of common arterial trunk using a handmade conduit can be performed with very low perioperative mortality and satisfactory mid-term and long-term results, which can be favorably compared with those reported with the use of homografts. When graft obstruction develops, peeling procedure is a good option because it does not affect the overall survival, although long-term outcomes warrant further follow-up.

[Comparison between patients undergoing Fontan operation with or without cardiopulmonary bypass]. / Comparación de pacientes sometidos a cirugía de Fontan con y sin derivación cardiopulmonar.

Fontan operation is the final palliative stage of patients with univentricular hearts. Cardiopulmonary bypass (CPB) decreases ventricular performance and increases pulmonary artery pressures in the post operative recovery period. It seems that Fontan operation performed without CPB decreases short term morbidity and intra hospitalary length of stay. OBJETIVE: Compare outcome in Fontan patients who have undergone surgery with or without CPB. METHOD: This is a retrospective review of patients undergoing Fontan operation from january 2009 to december 2012. Patients were grouped according to CPB use and comparative analyses were done. RESULTS: Ten patients were operated without CPB use. There was a discrepancy between age in both groups, being younger in the no CPB group. Around 80% of patients in both groups had a staged procedure. A 18mm graft was used in half of the cases; a fenestration was created in all cases. Length of stay was equal in both groups, there was less need of pharmacologic support and nitric oxide use in patients without CPB use. No deaths were reported also in this group. At folllow up, most patients had a class i functional status. CONCLUSIONS: In our experience, Fontan operation without CPB has similar outcomes compared with CPB use.

Aortic iatrogenic perforation during transseptal puncture and successful occlusion with Amplatzer ductal occluder in a case of mitral paravalvular leak closure.

Complications of transseptal puncture are significant and potentially life threatening. Aortic perforation is one of these complications and it needs to be repaired immediately. We report the case of a 48-year-old female with a history of rheumatic mitral valve disease. She underwent three previous mitral valve replacements. Her last echocardiogram reported an anterolateral leak in the mitral prosthesis. Catheterization was performed. During the procedure, when attempting to perform transseptal puncture, catheterization was complicated by a forcefully puncture of the aortic root by the Brockenbrough needle followed by an immediately advancement of an 8-Fr Mullins sheath. We decided to leave the 8-Fr sheath in the aortic root recognizing the danger of removing the sheath and finally we advanced a 6/4 mm Amplatzer ductal occluder (ADO I) through the Mullins sheath and under fluoroscopy and TEE guidance we achieved a successful deployment of the device and closure of the perforation. Subsequently, the paravalvular leak was closed with an Amplatzer Vascular Plug (AVP III 10/5 mm). There are only three cases of a similar technique for the same injury in which the authors describe successful closing of aortic perforation with percutaneous closure devices. Our case is the first described during a mitral paravalvular leak closure. It is also the first to describe a different technique of leaving the Mullins sheath in the aortic root and advancing the Amplatzer device through it to achieve successful closure of the aortic perforation. We preferred the percutaneous closure over open-heart repair. © 2015 Wiley Periodicals, Inc.

Amplatzer® Vascular Plug III, para cierre de fuga paravalvular mitral residual: imagen de ecocardiograma transesofágico tridimensional / Amplatzer® Vascular Plug III, for closing residual mitral paravalvular leak: three-dimensional transesophageal echocardiography image

La fuga paravalvular es una complicación relevante después del cambio valvular quirúrgico. Tradicionalmente la cirugía ha sido considerada el tratamiento de elección, sin embargo, conlleva una elevada morbimortalidad, así como un incremento en el riesgo de desarrollar fuga paravalvular recurrente. El tratamiento percutáneo de la fuga paravalvular se presenta como una atractiva alternativa. Dicho tratamiento ha sido posible por la capacidad actual de integrar múltiples modalidades de imagen que han ayudado a definir la anatomía del defecto y a planificar y guiar el procedimiento de cierre percutáneo, resultando en mejores desenlaces. El Amplatzer® Vascular Plug III (St. Jude Medical) es el primer dispositivo específicamente diseñado para el cierre percutáneo de la fuga paravalvular con resultados prometedores. Presentamos la imagen ecocardiográfica transesofágica tridimensional del resultado exitoso de cierre percutáneo de una fuga paravalvular mitral residual con un dispositivo Amplatzer® Vascular Plug III (St. Jude Medical), después de un procedimiento inicial de cierre percutáneo con un dispositivo Amplatzer® Duct Occluder (St. Jude Medical).

Paravalvular leak is a significant complication after surgical valve replacement. Traditionally, redo surgery has been considered the treatment of choice, but is associated with high morbidity and mortality as well as increase risk of developing new leaks. Percutaneous treatment of paravalvular leak appears as an attractive alternative. Such treatment has been made possible by the current ability to integrate multiple imaging modalities that have helped to define the anatomy of the defect and planning and guiding the percutaneous closure procedure, thus resulting in better outcomes. The Amplatzer® Vascular Plug III (St. Jude Medical) is the first device specifically designed for percutaneous closure of paravalvular leak with promising results. We present the three-dimensional transesophageal echocardiographic images of a successful outcome of percutaneous closure of a residual mitral paravalvular leak with an Amplatzer® Vascular Plug III device (St. Jude Medical), after an initial procedure of percutaneous closure with an Amplatzer® duct occluder (St. Jude Medical).

[Amplatzer® Vascular Plug III, for closing residual mitral paravalvular leak: three-dimensional transesophageal echocardiography image]. / Amplatzer® Vascular Plug III, para cierre de fuga paravalvular mitral residual: imagen de ecocardiograma transesofágico tridimensional.

Paravalvular leak is a significant complication after surgical valve replacement. Traditionally, redo surgery has been considered the treatment of choice, but is associated with high morbidity and mortality as well as increase risk of developing new leaks. Percutaneous treatment of paravalvular leak appears as an attractive alternative. Such treatment has been made possible by the current ability to integrate multiple imaging modalities that have helped to define the anatomy of the defect and planning and guiding the percutaneous closure procedure, thus resulting in better outcomes. The Amplatzer® Vascular Plug III (St. Jude Medical) is the first device specifically designed for percutaneous closure of paravalvular leak with promising results. We present the three-dimensional transesophageal echocardiographic images of a successful outcome of percutaneous closure of a residual mitral paravalvular leak with an Amplatzer® Vascular Plug III device (St. Jude Medical), after an initial procedure of percutaneous closure with an Amplatzer® duct occluder (St. Jude Medical).

Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect.

BACKGROUND: The relevance of TBX20 gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect of TBX20 mutations in human congenital heart diseases. In these studies, all missense mutations associated with atrial septal defect (ASD) were found in the DNA-binding T-box domain, none in the transcriptional activator domain. METHODS: We search for TBX20 mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing. RESULTS: We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD. CONCLUSIONS: This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. These findings could have implications for diagnosis, genetic screening, and patient follow-up.

Cierre percutáneo de la comunicación interauricular con el dispositivo Amplatzer®: 15 años de experiencia / Percutaneous closure of atrial septal defects with the Amplatzer® device: 15 years of experience

Introducción: El cierre percutáneo de la comunicación interauricular es una alternativa al tratamiento quirúrgico. Objetivos: Comunicar los resultados del cierre percutáneo de la comunicación interauricular con el dispositivo Amplatzer®. Método: Se incluyeron los pacientes sometidos a hemodinamia de septiembre de 1997 a diciembre de 2011. Resultados: Se procedió al cierre del defecto en 721 pacientes y en 85 no se cerró por considerarse no apto anatómicamente. El diámetro expandido del defecto fue de 23 ± 6.7 mm (límites, 5-42). Todos los dispositivos se colocaron con éxito. En 15 casos (2.1%) se cambió el dispositivo por considerarse inestable y en 6 (0.8%) se presentó embolización en las primeras 24 h, 4 fueron rescatados y recolocados (éxito final con intención de tratamiento 719/806-89.2%). El control inmediato mostró oclusión completa en 247 pacientes (34.3%), fuga intradispositivo en 395 (54.9%), ligera en 75 (10.4%) y moderada en 2 (0.3%). Se hace seguimiento en 626 pacientes (87.1%) durante 33 ± 27.5 meses, presentándose cefalea en 54 (8.6%), arritmias supraventriculares nuevas en 10 (1.6%), complicaciones en el sitio de punción en 4 (0.6%) y accidente vascular cerebral en uno (0.1%). Conclusión: El diseño del dispositivo Amplatzer® permite el cierre de la comunicación interauricular con una técnica sencilla y con seguridad para el paciente.

Introduction: Percutaneous closure of atrial septal defects is an alternative to surgical treatment. Objectives: We report the results of percutaneous closure of atrial septal defects with the Amplatzer® device. Method: We include patients taken to the catheterization laboratory from September 1997 to December 2011. Results: We proceeded with defect closure in 721 patients and in 85 the defect was considered not suitable for closure. The stretched diameter of the defect was 23 ± 6.7 mm (limits, 5-42). All devices were positioned successfully. In 15 cases (2.1%) the device was changed due to instability and in 6 (0.8%) the device embolized within the first 24 h, 4 were retrieved and repositioned (final success with intention to treat 719/806-89.2%). Immediate control showed complete closure in 247 patients (34.3%), leak through the device in 395 (54.9%), mild residual leak in 75 (10.4%) and moderate in 2 (0.3%). We have follow-up in 626 patients (87.1%) for 33 ± 27.5 months, with headache in 54 (8.6%), new supraventricular arrhythmia in 10 (1.6%), puncture site complications in 4 (0.6%), and stroke in one (0.1%). Conclusion: The design of the Amplatzer® device allows effective closure of atrial septal defects with a simple technique and patient safety.