Cirugía congénitos

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Use of a customized 3D-printed external splint for the correction of a severe pectus excavatum in a 3-month-old kitten

Congenital cardiac surgery - Lun, 03/28/2022 - 10:00

Open Vet J. 2022 Jan-Feb;12(1):148-155. doi: 10.5455/OVJ.2022.v12.i1.18. Epub 2022 Feb 27.

ABSTRACT

BACKGROUND: Pectus excavatum is a rare congenital or developmental deformity of the chest wall that has been reported in both dogs and cats. The clinical symptoms vary in severity and are correlated with the grade of the deformity. The most severe cases are at a very high risk of intra- and post-operative complications that could be fatal.

CASE DESCRIPTION: A 3-month-old kitten was presented for severe dyspnea and exercise intolerance. After the radiographic diagnosis of severe pectus excavatum, a splint was designed based on the computed tomography scan of the kitten. A locking mechanism was applied on a dedicated pocket on the splint and secured with commercial glue. Five sutures were placed, the most caudal three with a surgical approach to the corresponding sternebra. The three caudal traction sutures were progressively tensioned during the first 2 weeks, and then tied. The splint was removed 1 month postoperatively; neither surgical nor splint-associated complications were observed. The kitten well tolerated the splint and the owner reported no further episodes of dyspnea or exercise intolerance. Vertebral and frontosagittal indexes were 3.2 and 9.1 at presentation, respectively, and 10.2 and 2.0 at 4 months postoperatively.

CONCLUSION: The use of a patient-specific 3D-printed external splint associated with a progressive correction of the pectus excavatum can be a better solution for the treatment of severe cases of pectus excavatum, where a sudden distension of the rib cage could cause re-expansion injuries.

PMID:35342728 | PMC:PMC8956236 | DOI:10.5455/OVJ.2022.v12.i1.18

Categorías: Cirugía congénitos

Termination of Macroreentrant Atrial Arrhythmias by Pacing Stimuli without Global Propagation

Congenital cardiac surgery - Lun, 03/28/2022 - 10:00

Heart Rhythm. 2022 Mar 24:S1547-5271(22)01635-6. doi: 10.1016/j.hrthm.2022.03.1220. Online ahead of print.

ABSTRACT

BACKGROUND: Electrical stimulation during ventricular tachycardia resulting in tachycardia termination without global propagation (TWGP) is a well-recognized phenomenon. However, there is a paucity of literature showing a similar phenomenon in atrial arrhythmias.

OBJECTIVE: The purpose of the study was to evaluate the significance of TWGP in atrial arrhythmias.

METHODS: Electrophysiology (EP) studies performed during 2000-2019 at Methodist Hospital, Indiana University were reviewed retrospectively. Thirty-four patients were identified in whom stimulation during atrial tachycardia/flutter resulted in TWGP.

RESULTS: Of the 34 patients, 12 (29%) had cavotricuspid isthmus (CTI) dependent atrial flutter and 22 (71%) had other atrial arrhythmias during which TWGP was seen. The mean age of the population was 53 ± 13 years; 68% were male. Prior catheter ablation either for atrial fibrillation, atrial flutter or other atrial tachyarrhythmias had been performed in 70.5%, and 44% had previously undergone cardiac surgery involving the atria. Congenital heart disease was present in 20.5%; 3 patients were post lung transplant. The mean cycle length of atrial arrhythmia in which TWGP was seen was 317 ± 76 ms. The sites at which TWGP was seen reproducibly were highly specific for successful termination of the arrhythmias with radiofrequency energy. The arrhythmia circuits were 12 CTI dependent atrial flutter, 11 left atrial macroreentrant AT (MRAT), 1 involving both left and right atrium, and 8 were other right atrial MRAT.

CONCLUSION: Termination of macroreentrant atrial arrhythmias by pacing stimuli without global propagation identifies a narrow diastolic isthmus at which catheter ablation is highly effective.

PMID:35341994 | DOI:10.1016/j.hrthm.2022.03.1220

Categorías: Cirugía congénitos

COVID-19 FAQs in Pediatric Cardiac Surgery: 2022 Perspective and Updates

Congenital cardiac surgery - Lun, 03/28/2022 - 10:00

World J Pediatr Congenit Heart Surg. 2022 Mar 28:21501351221085966. doi: 10.1177/21501351221085966. Online ahead of print.

NO ABSTRACT

PMID:35341384 | DOI:10.1177/21501351221085966

Categorías: Cirugía congénitos

Novel use of a Synovis coupler device for a surgical lymphovenous anastomosis for the treatment of refractory chylothorax in a patient with central lymphatic flow disorder

Congenital cardiac surgery - Lun, 03/28/2022 - 10:00

Clin Case Rep. 2022 Mar 20;10(3):e05636. doi: 10.1002/ccr3.5636. eCollection 2022 Mar.

ABSTRACT

Refractory post-operative chylothorax in congenital heart disease is difficult to treat. We present a case of intractable neonatal chylothorax after cardiac surgery due to central lymphatic flow disorder that was treated by creating a lymphovenous anastomosis of the thoracic duct to the left external jugular vein for definitive treatment.

PMID:35340646 | PMC:PMC8935127 | DOI:10.1002/ccr3.5636

Categorías: Cirugía congénitos

Artificial Roofing for Recurrent Pulmonary Vein Stenosis

Congenital cardiac surgery - Dom, 03/27/2022 - 10:00

Ann Thorac Surg. 2022 Mar 23:S0003-4975(22)00368-X. doi: 10.1016/j.athoracsur.2022.02.074. Online ahead of print.

NO ABSTRACT

PMID:35339444 | DOI:10.1016/j.athoracsur.2022.02.074

Categorías: Cirugía congénitos

Women in Thoracic Surgery 2020 Update-Subspecialty and Work-Life Balance Analysis

Congenital cardiac surgery - Dom, 03/27/2022 - 10:00

Ann Thorac Surg. 2022 Mar 23:S0003-4975(22)00370-8. doi: 10.1016/j.athoracsur.2022.02.076. Online ahead of print.

ABSTRACT

BACKGROUND: While women comprise nearly half of medical school graduates, they remain underrepresented in cardiothoracic (CT) surgery. To better understand ongoing barriers, we aimed to delineate issues relevant to the CT subspecialities, emphasizing personal life.

METHODS: An anonymous REDCap survey link was emailed to female diplomats of the American Board of Thoracic Surgeons (ABTS). The survey included questions on demographics, professional accolades, practice details, and personal life. Survey responses were compared across subspecialities using chi-squared testing.

RESULTS: Of 354 female ABTS diplomats, we contacted 309, and 176 (57%) completed the survey. By subspecialty, 42% practice thoracic, 26% adult cardiac, and 10% congenital cardiac; 19% report a mixed practice. The subspecialties differed in length of training (congenital the longest), practice location (mixed practice less urban), and academic rank (thoracic most full professors at 17%), but were largely similar in their personal lives. Among all respondents, 65% are in a committed relationship, but 40% felt that being a CT surgeon negatively impacted their ability to find a partner. 60% have children, but 31% of those with children reported using assisted reproductive technology, surrogacy, or adoption. The number with leadership roles (e.g. division chief, committee chair of national organization) did not differ among subspecialities, but was low, ranging from 0 to <30%.

CONCLUSIONS: Women remain underrepresented in CT surgery, particularly in the academic rank of full professor and in leadership positions. We advocate for scholarship and mentorship opportunities to encourage women to enter the field, increased female leadership, and policies to enable families.

PMID:35339440 | DOI:10.1016/j.athoracsur.2022.02.076

Categorías: Cirugía congénitos

The First Case of <em>Granulicatella adiacens</em> Identified from a Resected Heart Valve by Next Generation Sequencing (NGS) in Poland

Congenital cardiac surgery - Sáb, 03/26/2022 - 10:00

Pathogens. 2022 Feb 25;11(3):295. doi: 10.3390/pathogens11030295.

ABSTRACT

In this report, we describe the course and successful treatment of a case of complicated infective endocarditis (IE). A patient presented with a high-grade, irregular fever with chills lasting at least 2 months along with dyspnoea, chest pain, fatigue, weight loss, and night sweats during the previous 3 months. As well as cardiac congenital disorders, he was found to have Granulicatella adiacens infective aortic valve endocarditis, presumably transmitted from the oral cavity niche. Validated metagenomic 16S rDNA next generation sequencing was used to perform taxonomic identification, allowing for specific adequate antibiotic therapy instead of empiric therapy. This paper highlights the critical role of rapid taxonomic identification of nutritionally variant streptococci and the benefit of proper IE treatment in avoiding relapses or fatal complications.

PMID:35335619 | PMC:PMC8950401 | DOI:10.3390/pathogens11030295

Categorías: Cirugía congénitos

Magnetic resonance lymphangiography in post-Fontan palliation patients with MR non-conditional cardiac electronic devices: An institutional experience

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Clin Imaging. 2022 Feb 23;86:43-52. doi: 10.1016/j.clinimag.2022.02.016. Online ahead of print.

ABSTRACT

Magnetic resonance imaging (MRI) is a routinely used imaging modality for the diagnosis and treatment planning of many health conditions in children and adults. Yet, its use has been limited in many institutions for patients with cardiac implantable electronic devices (CIEDs) due to safety concerns. Current evidence relates primarily to devices with transvenous leads. However, patients with complex cardiac anatomy and palliative surgery procedures often require epicardial pacemakers. To date, very few studies have addressed MRI safety considerations with non-conditional CIEDs or abandoned epicardial leads in infants, and to our knowledge, this is the first report that shows Fontan palliation patients who underwent Dynamic Contrast enhanced MR Lymphangiography (DCMRL) with these types of devices. We present our institutional experience with five cases where a DCMRL was safely performed in three children and two adults with Fontan palliation to evaluate their lymphatic anatomy and guide interventional procedures. Regarding our brief experience, we concluded that DCMRL may be considered in post-Fontan patients with non-conditional CIEDs, including epicardial leads, seeking the best diagnostic and treatment options available. Institutional protocols must be revised in advance to perform this technique in a controlled setting.

PMID:35334301 | DOI:10.1016/j.clinimag.2022.02.016

Categorías: Cirugía congénitos

Protective continuous ventilation strategy during cardiopulmonary bypass in children undergoing surgery for congenital heart disease: a prospective study

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Interact Cardiovasc Thorac Surg. 2022 Mar 25:ivac084. doi: 10.1093/icvts/ivac084. Online ahead of print.

ABSTRACT

OBJECTIVES: The aim of this study was to evaluate if a 'protective' (low-tidal/low-frequency) ventilation strategy can shorten the postoperative ventilation time and minimize acute lung injury in children with congenital heart disease (CHD) undergoing repair with cardiopulmonary bypass (CPB).

METHODS: This is a single-centre prospective, interventional study, including children with CHD under the age of 5 years, undergoing open-heart surgery with a CPB >60 min, in hypothermia, haemodynamically stable, and without evident genetic abnormalities. Assist-control ventilation (tidal volume of 4 ml/kg, 10 breaths/min, positive end-expiratory pressure 5 cmH2O and FiO2 0.21) was applied in a cohort of patients during CPB. We compared clinical outcomes and in fully ventilated versus non-ventilated (control) patients. Propensity score was used to weigh ventilated and control groups to correct for the effect of other confounding clinical variables. Clinical and ventilation parameters and lung inflammatory biomarkers in tracheal aspirates were measured. The primary outcome was the postoperative intubation time of more or less than 48 h.

RESULTS: We included 140 children (53 ventilated, 87 non-ventilated) with different CHD. There were no deaths or adverse events in ventilated patients. Using a weighted generalized linear model, we found no sufficient evidence for an effect of intraoperative ventilation on postoperative intubation time [estimate 0.13 (95% confidence interval, -0.08; 0.35), P = 0.22].

CONCLUSIONS: Continuous low-tidal/low-frequency mechanical ventilation during CPB is safe and harmless. However, no significant advantages were found when compared to non-ventilated patients in terms of postoperative ventilation time.

PMID:35333340 | DOI:10.1093/icvts/ivac084

Categorías: Cirugía congénitos

Echocardiographic scores for biventricular repair risk prediction of congenital heart disease with borderline left ventricle: a review

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Heart Fail Rev. 2022 Mar 25. doi: 10.1007/s10741-022-10230-0. Online ahead of print.

ABSTRACT

The aim of this review is to highlight the strengths and limitations of major echocardiographic biventricular repair (BVR) prediction models for borderline left ventricle (LV) in complex congenital heart disease (CHD). A systematic search in the National Library of Medicine for Medical Subject Headings and free text terms including echocardiography, CHD, and scores, was performed. The search was refined by adding keywords for critical aortic stenosis (AS), borderline LV, complex left ventricular outflow tract (LVOT) obstruction, hypoplastic left heart syndrome/complex (HLHS/HLHC), and unbalanced atrio-ventricular septal defects (uAVSD). Fifteen studies were selected for the final analysis. We outlined what echocardiographic scores for different types of complex CHD with diminutive LV are available. Scores for CHD with LVOT obstruction including critical AS, HLHS/HLHC, and aortic arch hypoplasia have been validated and implemented by several studies. Scores for uAVSD with right ventricle (RV) dominance have also been established and implemented, the first being the atrioventricular valve index (AVVI). In addition to AVII, both LV/RV inflow angle and LV inflow index have all been validated for the prediction of BVR. We conclude with a discussion of limitations in the development and validation of each of these scores, including retrospective design during score development, heterogeneity in echocardiographic parameters evaluated, variability in the definition of outcomes, differences in adopted surgical and Interventional strategies, and institutional differences. Furthermore, scores developed in the past two decades may have little clinical relevance now. In summary, we provide a review of echocardiographic scores for BVR in complex CHD with a diminutive LV that may serve as a guide for use in modern clinical practice.

PMID:35332415 | DOI:10.1007/s10741-022-10230-0

Categorías: Cirugía congénitos

Surgical resection for congenital lung malformation: Lessons learned from thoracotomy to biportal thoracoscopy under one-lung ventilation

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

J Formos Med Assoc. 2022 Mar 21:S0929-6646(22)00105-X. doi: 10.1016/j.jfma.2022.03.003. Online ahead of print.

ABSTRACT

BACKGROUND: The purpose of this study is to compare the clinical characteristics and surgical outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in children with congenital lung malformations (CLMs) in a tertiary referring center and to report our modified biportal VATS setting.

METHODS: This is a single-center retrospective chart review study including children who underwent surgical resection for CLMs between January 2007 and December 2020. Patient characteristics and surgical outcomes were compared between open and thoracoscopy, as well as conventional VATS and biportal VATS. Biportal setting included an anterior utility wound and a camera trocar wound with one-lung ventilation.

RESULTS: A total of 100 patients were identified. Twenty patients received thoracotomy, and 80 patients received VATS (67 conventional and 13 biportal VATS). The median age at operation was 0.4 months in the thoracotomy group and 4.7 months in the VATS group. More patients in the thoracotomy group had preoperative symptoms, comorbidities, and emergent operations. The patients who underwent thoracotomy had significantly longer postoperative ICU stays, chest tube durations, hospital stays, and more complications. The pathological analysis revealed 67 congenital pulmonary airway malformations, 27 pulmonary sequestration, 6 hybrid lesions, and one accompanying pleuropulmonary blastoma. Compared to conventional VATS, the ICU stay was shorter in the biportal VATS group, with comparable operative durations, hospital stay and complications.

CONCLUSIONS: VATS for CLMs is associated with better postoperative recovery and fewer complications. Biportal VATS is also a safe and feasible approach.

PMID:35331621 | DOI:10.1016/j.jfma.2022.03.003

Categorías: Cirugía congénitos

Natural and Modified History of Atrioventricular Valve Regurgitation in Patients With Fontan Circulation

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

J Am Coll Cardiol. 2022 Mar 12:S0735-1097(22)00458-2. doi: 10.1016/j.jacc.2022.02.022. Online ahead of print.

ABSTRACT

BACKGROUND: Atrioventricular valve (AVV) regurgitation is increasingly prevalent in patients with a Fontan circulation.

OBJECTIVES: We sought to determine the impact of ventricular dominance and AVV operation on outcomes in patients with a Fontan circulation and ≥moderate AVV regurgitation.

METHODS: We conducted a retrospective study, including propensity score matching analysis, of 1,703 patients who survived Fontan operation in Australia and New Zealand from 1987 to 2021.

RESULTS: Patients undergoing AVV operation were more likely to have right ventricular (RV) dominance or an atrioventricular septal defect. In the entire cohort, death or transplantation after Fontan operation was significantly higher in patients who underwent AVV operation before or at Fontan completion compared with those who did not (20 years: 18%; 95% CI: 8%-26% vs 13%; 95% CI: 10%-15%; P = 0.03). After propensity score matching, including for RV dominance, there was no significant difference in death or transplantation between the groups (20 years: 18%; 95% CI: 8%-26% vs 16%; 95% CI: 10%-22%; P = 0.41). Only patients with RV dominance who developed ≥moderate AVV regurgitation after Fontan operation were at increased risk of death or transplantation (HR: 2.8; 95% CI: 1.4-5.3; P < 0.01). In patients with left ventricular dominance, there was no significant difference in death or transplantation between patients with ≥moderate AVV regurgitation compared with those with <moderate regurgitation (P = 0.8).

CONCLUSIONS: RV dominance, but not AVV surgery itself, was associated with poor outcomes. Moderate or greater AVV regurgitation after Fontan operation is associated with a significantly increased risk of death or transplantation, only in patients with RV dominance.

PMID:35331598 | DOI:10.1016/j.jacc.2022.02.022

Categorías: Cirugía congénitos

Lead Extraction at a Pediatric/Congenital Heart Disease Center: The Importance of Patient Age at Implant

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

JACC Clin Electrophysiol. 2022 Mar;8(3):343-353. doi: 10.1016/j.jacep.2021.11.008. Epub 2022 Jan 31.

ABSTRACT

OBJECTIVES: This study sought to evaluate the safety and efficacy of transvenous lead extraction (TLE) at a single pediatric/congenital heart disease (CHD) center.

BACKGROUND: Data on TLE in pediatric and CHD patients are limited.

METHODS: Retrospective cohort study evaluating TLE from 2008 to 2019.

RESULTS: A total of 113 patients underwent TLE with 162 leads removed (including 38 high-voltage leads). Median age at lead implantation was 13 years (range 0.6-61.8 years), with a median age at extraction of 21.6 years (6.4-64.3 years). Median lead age was 7.2 years (1.0-35.3 years). Successful extraction occurred in 110 (97%) patients, 159 (98%) leads. Complex extraction was needed for 120 leads; 52 (44%) using laser alone, 27 (23%) mechanical sheath alone, and 21 (18%) using both. Femoral extraction was used for 19 (16%) leads. Risk factors for complex extraction were ≥2 leads extracted (odds ratio: 3.36; 95% confidence interval [CI]: 1.2-9.36; P = 0.021), lead within the right ventricle (odds ratio: 2.8; 95% CI: 1.2-6.5; P = 0.017), and a combination of younger patient age at implant and older lead age at extraction, with patients ≤12 years of age at implant and leads ≥7 years of age having an odds ratio: of 10.1 (95% CI: 2.21-45.9; P = 0.003). Major complications occurred in 5 (4.4%) of patients, with no mortality, but a high incidence of tricuspid valve injury.

CONCLUSIONS: TLE can be performed successfully and safely in a pediatric and CHD center. Patient age at lead implantation, not age at extraction, is an important predictor of needing a complex extraction, with younger patients at implant and older leads at extraction having the highest risk.

PMID:35331429 | DOI:10.1016/j.jacep.2021.11.008

Categorías: Cirugía congénitos

Eisenmenger Syndrome: JACC State-of-the-Art Review

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

J Am Coll Cardiol. 2022 Mar 29;79(12):1183-1198. doi: 10.1016/j.jacc.2022.01.022.

ABSTRACT

Although major breakthroughs in the field of pediatric cardiology, cardiac surgery, intervention, and overall care improved the outlook of congenital heart disease, Eisenmenger syndrome (ES) is still encountered and remains a complex clinical entity with multisystem involvement, including secondary erythrocytosis, increased thrombotic and bleeding diathesis, high arrhythmogenic risk, progressive heart failure, and premature death. Clearly, care for ES is best delivered in multidisciplinary expert centers. In this review, we discuss the considerable recent progress in understanding the complex pathophysiology of ES, means of prognostication, and improvement in clinical outcomes achieved with pulmonary arterial hypertension-targeted therapies. Additionally, we delineate areas of uncertainty in various aspects of care, discuss gaps in current evidence, and review current status in less privileged countries and propose initiatives to reduce disease burden. Finally, we propose the application of emerging technologies to enhance the delivery and quality of health care related to ES and beyond.

PMID:35331414 | DOI:10.1016/j.jacc.2022.01.022

Categorías: Cirugía congénitos

The Role of 3D Printing in Planning Complex Medical Procedures and Training of Medical Professionals-Cross-Sectional Multispecialty Review

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Int J Environ Res Public Health. 2022 Mar 11;19(6):3331. doi: 10.3390/ijerph19063331.

ABSTRACT

Medicine is a rapidly-evolving discipline, with progress picking up pace with each passing decade. This constant evolution results in the introduction of new tools and methods, which in turn occasionally leads to paradigm shifts across the affected medical fields. The following review attempts to showcase how 3D printing has begun to reshape and improve processes across various medical specialties and where it has the potential to make a significant impact. The current state-of-the-art, as well as real-life clinical applications of 3D printing, are reflected in the perspectives of specialists practicing in the selected disciplines, with a focus on pre-procedural planning, simulation (rehearsal) of non-routine procedures, and on medical education and training. A review of the latest multidisciplinary literature on the subject offers a general summary of the advances enabled by 3D printing. Numerous advantages and applications were found, such as gaining better insight into patient-specific anatomy, better pre-operative planning, mock simulated surgeries, simulation-based training and education, development of surgical guides and other tools, patient-specific implants, bioprinted organs or structures, and counseling of patients. It was evident that pre-procedural planning and rehearsing of unusual or difficult procedures and training of medical professionals in these procedures are extremely useful and transformative.

PMID:35329016 | PMC:PMC8953417 | DOI:10.3390/ijerph19063331

Categorías: Cirugía congénitos

Overview of Lung Ultrasound in Pediatric Cardiology

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Diagnostics (Basel). 2022 Mar 21;12(3):763. doi: 10.3390/diagnostics12030763.

ABSTRACT

Lung ultrasound (LUS) is increasing in its popularity for the diagnosis of pulmonary complications in acute pediatric care settings. Despite the high incidence of pulmonary complications for patients with pediatric cardiovascular and congenital heart disease, especially in children undergoing cardiac surgery, the use of LUS remains quite limited in these patients. The aim of this review is to provide a comprehensive overview and list of current potential applications for LUS in children with congenital heart disease, post-surgery. We herein describe protocols for LUS examinations in children, discuss diagnostic criteria, and introduce methods for the diagnosis and classification of pulmonary disease commonly encountered in pediatric cardiology (e.g., pleural effusion, atelectasis, interstitial edema, pneumothorax, pneumonia, and diaphragmatic motion analysis). Furthermore, applications of chest ultrasounds for the evaluation of the retrosternal area, and in particular, systematic search criteria for retrosternal clots, are illustrated. We also discussed the potential applications of LUS, including the guidance of interventional procedures, namely lung recruitment and drainage insertion. Lastly, we analyzed current gaps in knowledge, including the difficulty of the quantification of pleural effusion and atelectasis, and the need to differentiate different etiologies of B-lines. We concluded with future applications of LUS, including strain analysis and advanced analysis of diaphragmatic mechanics. In summary, US is an easy, accurate, fast, cheap, and radiation-free tool for the diagnosis and follow-up of major pulmonary complications in pediatric cardiac surgery, and we strongly encourage its use in routine practice.

PMID:35328316 | PMC:PMC8946933 | DOI:10.3390/diagnostics12030763

Categorías: Cirugía congénitos

Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Genes (Basel). 2022 Feb 24;13(3):411. doi: 10.3390/genes13030411.

ABSTRACT

Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of FOXC1. The family history is consistent with highly variable autosomal dominant symptoms including isolated glaucoma, iris hypoplasia, aniridia, cataract, hypothyroidism, and congenital heart anomalies. Whole-exome sequencing revealed a novel variant [c.313_314insA; p.(Tyr105*)] in FOXC1 that disrupts the α-helical region of the DNA-binding forkhead box domain. In vitro studies using a heterologous cell system revealed aberrant cytoplasmic localization of FOXC1 harboring the Tyr105* variant, likely precluding downstream transcription function. Meta-analysis of the literature highlighted the intrafamilial variability related to FOXC1 truncating alleles. This study highlights the clinical variability in ASD and signifies the importance of combining both clinical and molecular analysis approaches to establish a complete diagnosis.

PMID:35327965 | PMC:PMC8949076 | DOI:10.3390/genes13030411

Categorías: Cirugía congénitos

Extracorporeal Membrane Oxygenation in Congenital Heart Disease

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Children (Basel). 2022 Mar 9;9(3):380. doi: 10.3390/children9030380.

ABSTRACT

Mechanical circulatory support (MCS) is a key therapy in the management of patients with severe cardiac disease or respiratory failure. There are two major forms of MCS commonly employed in the pediatric population-extracorporeal membrane oxygenation (ECMO) and ventricular assist device (VAD). These modalities have overlapping but distinct roles in the management of pediatric patients with severe cardiopulmonary compromise. The use of ECMO to provide circulatory support arose from the development of the first membrane oxygenator by George Clowes in 1957, and subsequent incorporation into pediatric cardiopulmonary bypass (CPB) by Dorson and colleagues. The first successful application of ECMO in children with congenital heart disease undergoing cardiac surgery was reported by Baffes et al. in 1970. For the ensuing nearly two decades, ECMO was performed sparingly and only in specialized centers with varying degrees of success. The formation of the Extracorporeal Life Support Organization (ELSO) in 1989 allowed for the collation of ECMO-related data across multiple centers for the first time. This facilitated development of consensus guidelines for the use of ECMO in various populations. Coupled with improving ECMO technology, these advances resulted in significant improvements in ECMO utilization, morbidity, and mortality. This article will review the use of ECMO in children with congenital heart disease.

PMID:35327752 | PMC:PMC8947570 | DOI:10.3390/children9030380

Categorías: Cirugía congénitos

Non-Cardiac Cause of Death in Selected Group Children with Cardiac Pathology: A Retrospective Single Institute Study

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Children (Basel). 2022 Mar 2;9(3):335. doi: 10.3390/children9030335.

ABSTRACT

BACKGROUND: Pediatricians and pediatric surgeons often face children with cardiomegaly and dilatative or hypertrophic cardiomyopathies presenting with or without symptoms. Some of these patients have already been diagnosed and received medication, and some present with completely unrelated pathologies.

METHODS: We performed a 4-year retrospective study on the causes and mechanisms of death of children with cardiac pathology who died outside the cardiology clinic of our hospital by studying the hospital charts and necropsy reports. All children who were in this situation in our hospital were included.

RESULTS: Most children in our study group were infants (81.82%), most were boys (81.82%), and in most cases, the cause or mechanism of death was unrelated to their heart condition, whether it had already been diagnosed or not (one case probably died as a result of a malignant ventricular arrhythmia). Additionally, 27.27% of children died as a consequence of bronchopneumonia, the same percentage died as a consequence of an acquired non-pulmonary disease or after surgery, and 18.18% died as a consequence of congenital malformations.

CONCLUSIONS: Cardiac disease needs to be thoroughly investigated using multiple tools for all children presenting with heart failure symptoms, those with heart murmurs, and children scheduled for surgery of any type. The intensive care specialist and surgeon need to be aware of any heart pathology before non-cardiac surgical interventions.

PMID:35327707 | PMC:PMC8946943 | DOI:10.3390/children9030335

Categorías: Cirugía congénitos

Thyroidal Transcriptomic Profiles of Pathoadaptive Responses to Congenital Hypothyroidism in XB130 Knockout Mice

Congenital cardiac surgery - Vie, 03/25/2022 - 10:00

Cells. 2022 Mar 12;11(6):975. doi: 10.3390/cells11060975.

ABSTRACT

Congenital hypothyroidism is a genetic condition in which the thyroid gland fails to produce sufficient thyroid hormone (TH), resulting in metabolic dysfunction and growth retardation. Xb130-/- mice exhibit perturbations of thyrocyte cytoskeleton and polarity, and develop postnatal transient growth retardation due to congenital hypothyroidism, leading ultimately to multinodular goiter. To determine the underlying mechanisms, we performed transcriptomic analyses on thyroid glands of mice at three age points: week 2 (W2, before visible growth retardation), W4 (at the nadir of growth); and W12 (immediately before full growth recovery). Using gene set enrichment analysis, we compared a defined set of thyroidal genes between Xb130+/+ and Xb130-/- mice to identify differentially enriched gene clusters. At the earliest postnatal stage (W2), the thyroid glands of Xb130-/- mice exhibited significantly downregulated gene clusters related to cellular metabolism, which continued to W4. Additionally, mutant thyroids at W4 and W12 showed upregulated gene clusters related to extracellular matrix, angiogenesis, and cell proliferation. At W12, despite nearly normal levels of serum TH and TSH and body size, a significantly large number of gene clusters related to inflammatory response were upregulated. Early postnatal TH deficiency may suppress cellular metabolism within the thyroid gland itself. Upregulation of genes related to extracellular matrix and angiogenesis may promote subsequent thyroid growth. Chronic inflammatory responses may contribute to the pathogenesis of multinodular goiter in later life. Some of the pathoadaptive responses of Xb130-/- mice may overlap with those from other mutations causing congenital hypothyroidism.

PMID:35326426 | PMC:PMC8947158 | DOI:10.3390/cells11060975

Categorías: Cirugía congénitos
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