Cirugía congénitos

World J Clin Cases. 2022 Dec 6;10(34):12671-12677. doi: 10.12998/wjcc.v10.i34.12671.

ABSTRACT

BACKGROUND: Bronchogenic cysts are cystic masses caused by congenital abnormal development of the respiratory system, and usually occur in the pulmonary parenchyma or mediastinum.

CASE SUMMARY: A rare case of a bronchogenic cyst discovered in the abdominal cavity of a 35-year-old man is reported. Physical examination found a space-occupying lesion in the patient's abdomen for 4 d. Laparoscopic exploration found the cyst tightly adhered to the stomach and its peripheral blood vessels; therefore, intraoperative laparotomy was performed. The cystic mass was resected en bloc with an Endo-GIA stapler. The final postoperative pathological diagnosis confirmed an abdominal bronchogenic cyst.

CONCLUSION: This is a rare case of a bronchogenic cyst that was discovered within the abdominal cavity of a male patient. The cyst is easily confused with or misdiagnosed as other lesions. Therefore, it is necessary to distinguish abdominal bronchogenic cyst from gastrointestinal stromal tumor, Meckel's diverticulum, enteric duplication cyst, or lymphangioma. Although computer tomography and magnetic resonance imaging were the primary diagnostic approaches, endoscopic ultrasound-guided fine-needle aspiration could assist with clarification of the cytological or histopathological diagnosis before surgery.

PMID:36579087 | PMC:PMC9791524 | DOI:10.12998/wjcc.v10.i34.12671

Respir Med Case Rep. 2022 Dec 13;41:101793. doi: 10.1016/j.rmcr.2022.101793. eCollection 2023.

ABSTRACT

Pleuropulmonary blastoma (PPB) is a rare primitive malignant lung cancer that occurs in pediatric age. Its main differential diagnosis is congenital cystic pulmonary malformation (CPAM). A 30-day-old infant with respiratory failure obtained a chest x-ray and a computed tomography scan (CT) which revealed hypertensive pneumothorax with multifocal bilateral cysts. After thoracic drainage, the patient underwent multiple thoracoscopic pulmonary resections. The first histological diagnosis was of type 2 CPAM. During the radiological follow-up, an increase in the number and dimension of the lesions was detected. Thus, a histological revision was performed, leading to the diagnosis of type I PPB, at nine months. The patient subsequently underwent chemotherapy. At the five-year follow-up appointment, chest magnetic resonance (MR) and CT scans showed a dimensional increase in size of the lesions, with the risk of recurrent pneumothorax. An upper right lobectomy and wedge resection of the residual cysts were performed. Control MR scans showed normalization of the lung parenchyma and the patient showed substantial clinical improvement.

PMID:36579078 | PMC:PMC9791169 | DOI:10.1016/j.rmcr.2022.101793

Surg Open Sci. 2022 Dec 5;11:73-76. doi: 10.1016/j.sopen.2022.11.005. eCollection 2023 Jan.

ABSTRACT

BACKGROUND: Innovation is broadly defined as the act of introducing a new product, idea, or process. The field of surgery is built upon innovation, revolutionizing technology, science, and tools to improve patient care. While most innovative solutions are aimed at problems with a significant patient population, the process can also be used on orphan pathologies without obvious solutions. We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age.

METHODS: Utilizing the framework of the innovation process akin to the Stanford Biodesign Program, 1) the parameters of the clinical problem were identified, 2) previous solutions and existing technologies were analyzed, newly invented solutions were brainstormed, and value analysis of the possible solutions were carried out using crowd wisdom, and 3) the selected solution was prototyped and tested using 3D modeling, iterative testing on 3D prints of actual-sized patient parts, and eventual implementation in the patient after regulatory clearance.

RESULTS: A 3D-printed external bioresorbable splint was chosen as the solution. Our patient underwent airway reconstruction with "trachealization of the esophagus": esophageotracheal fistula resection, esophagotracheoplasty, and placement of a 3D-printed polycaprolactone (PCL) stent for external esophageal airway support at five months of age.

CONCLUSIONS: The innovation process provided our team with the guidance and imperative steps necessary to develop an innovative device for the successful management of an infant survivor with Floyd Type I tracheal agenesis.

ARTICLE SUMMARY: We present a case of tracheal agenesis, a rare congenital anomaly with an overwhelming mortality and few good treatment options, that benefited from the innovation process and achieved survival with no ventilator dependence at three years of age.The importance of this report is to reveal how the innovation process, which is typically used for problems with significant patient population, can also be used on orphan pathologies without obvious solutions.

PMID:36578695 | PMC:PMC9791920 | DOI:10.1016/j.sopen.2022.11.005

Sci Rep. 2022 Dec 28;12(1):22461. doi: 10.1038/s41598-022-26918-0.

ABSTRACT

To describe congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome (DS), which could inform potential health recommendations for this population. Cross-sectional, observational study of adults with DS evaluated consecutively at a tertiary care, outpatient center between January 1 and December 31, 2019. The study population comprised 937 patients (51.8% men; median [IQR] age, 42 [18] years). An echocardiogram was available in the clinical chart of 420 patients (44.8%). The diagnosis of any form of heart disease was confirmed in 211 patients (22.5%): 101 (10.8%) had congenital heart defects, 80 (8.5%) simultaneous congenital and valvular heart diseases, and 30 (3.2%) isolated valvular heart disease. 111 patients (52.6% of those with congenital or valvular heart disease) had received corrective cardiac surgery. A total of 65 individuals were receiving medical management alone (30.8%), while 35 did not require any treatment because their cardiac disease was mild (16.6%). We found a high overall prevalence of heart disease in patients with DS, higher than previously reported for the pediatric population. Management of cardiovascular disease in adults with DS differs from that of the general population and should include universal echocardiography-based screening.

PMID:36577781 | DOI:10.1038/s41598-022-26918-0

PeerJ. 2022 Dec 21;10:e14056. doi: 10.7717/peerj.14056. eCollection 2022.

ABSTRACT

BACKGROUND: The aim of this study is to identify echocardiographic predictors of transient left ventricle dysfunction after pulmonary valve balloon dilatation (PVBD), in neonates with pulmonary valve stenosis (PVS) and atresia with intact septum (PAIVS) at birth.

METHODS: The study includes patients admitted at the Bambino Gesù Children Hospital from January 2012 to January 2017. Clinical, echocardiographic and cardiac catheterization data before and after PVBD were retrospectively analyzed.

RESULTS: Twenty-nine infants were included in the study (21 male and eight female). The median age was 5.8 ± 7.1 days. Eight patients developed transient LV dysfunction (three PAIVS and five PVS) and comparing data before and after the procedure, there was no difference in right ventricle geometrical and functional parameters except for evidence of at least moderate pulmonary valve regurgitation after PVBD.

CONCLUSION: Moderate to severe degree pulmonary valve regurgitation was significant associated to LV dysfunction (p < 0.05) in PVS and PAIVS patients.

PMID:36573236 | PMC:PMC9789691 | DOI:10.7717/peerj.14056

J Magn Reson Imaging. 2022 Dec 26. doi: 10.1002/jmri.28568. Online ahead of print.

ABSTRACT

BACKGROUND: Manually segmenting cardiac structures is time-consuming and produces variability in MRI assessments. Automated segmentation could solve this. However, current software is developed for adults without congenital heart defects (CHD).

PURPOSE: To evaluate automated segmentation of left ventricle (LV) and right ventricle (RV) for pediatric MRI studies.

STUDY TYPE: Retrospective comparative study.

POPULATION: Twenty children per group of: healthy children, LV-CHD, tetralogy of Fallot (ToF), and univentricular CHD, aged 11.7 [8.9-16.0], 14.2 [10.6-15.7], 14.6 [11.6-16.4], and 12.2 [10.2-14.9] years, respectively.

SEQUENCE/FIELD STRENGTH: Balanced steady-state free precession at 1.5 T.

ASSESSMENT: Biventricular volumes and masses were calculated from a short-axis stack of images, which were segmented manually and using two fully automated software suites (Medis Suite 3.2, Medis, Leiden, the Netherlands and SuiteHeart 5.0, Neosoft LLC, Pewaukee, USA). Fully automated segmentations were manually adjusted to provide two further sets of segmentations. Fully automated and adjusted automated segmentation were compared to manual segmentation. Segmentation times and reproducibility for each method were assessed.

STATISTICAL TESTS: Bland Altman analysis and intraclass correlation coefficients (ICC) were used to compare volumes and masses between methods. Postprocessing times were compared by paired t-tests.

RESULTS: Fully automated methods provided good segmentation (ICC > 0.90 compared to manual segmentation) for the LV in the healthy and left-sided CHD groups (eg LV-EDV difference for healthy children 1.4 ± 11.5 mL, ICC: 0.97, for Medis and 3.0 ± 12.2 mL, ICC: 0.96 for SuiteHeart). Both automated methods gave larger errors (ICC: 0.62-0.94) for the RV in these populations, and for all structures in the ToF and univentricular CHD groups. Adjusted automated segmentation agreed well with manual segmentation (ICC: 0.71-1.00), improved reproducibility and reduced segmentation time in all patient groups, compared to manual segmentation.

DATA CONCLUSION: Fully automated segmentation eliminates observer variability but may produce large errors compared to manual segmentation. Manual adjustments reduce these errors, improve reproducibility, and reduce postprocessing times compared to manual segmentation. Adjusted automated segmentation is reasonable in children with and without CHD.

EVIDENCE LEVEL: 3.

TECHNICAL EFFICACY: Stage 2.

PMID:36573004 | DOI:10.1002/jmri.28568

Innovations (Phila). 2022 Dec 26:15569845221138268. doi: 10.1177/15569845221138268. Online ahead of print.

ABSTRACT

Single-ventricular cardiopathies are challenging conditions requiring multiple surgical interventions to hopefully achieve adulthood. In neonates, pulmonary artery banding allows ventricular adaptation and pulmonary vascular bed protection. Here we present a novel minimally invasive approach to pulmonary artery banding through a 1.5 cm left parasternal minithoracotomy. This technique not only allows for a less traumatic first procedure but also a less manipulated mediastinum and untouched sternum for the consequent surgeries to come. This technique is reproducible in experienced hands and shows favorable and promising results when performed properly.

PMID:36571265 | DOI:10.1177/15569845221138268

Cureus. 2022 Nov 21;14(11):e31747. doi: 10.7759/cureus.31747. eCollection 2022 Nov.

ABSTRACT

INTRODUCTION: Infective endocarditis (IE) is a rare disease with high mortality and morbidity. In recent years, an increase in the frequency of infective endocarditis has been observed due to the increase in the survival of cases with congenital heart diseases (CHDs) and the use of central catheters. In addition to revealing the incidence of IE in our clinic, this study aimed to evaluate the demographic characteristics, predisposing factors, clinical, laboratory, microbiological, and echocardiographic findings, and the complications of follow-up of our patients diagnosed with IE in light of the literature.

MATERIAL AND METHODS: Thirteen patients with IE who were hospitalized in Pediatric Cardiology Clinic, Pamukkale University Medical Faculty Hospital between January 2016 and August 2021 were retrospectively reviewed. The patients included in the study were evaluated in terms of demographic characteristics, predisposing factors, clinical, laboratory and microbiological findings, echocardiography data, surgical intervention needs, and complications. The incidence of IE in our clinic was defined as the rate of IE among patients admitted to the hospital and reported as the number of patients with IE per 100,000 hospital admissions.

RESULTS: The median age of these 13 patients was 11 (7-14) years, and the male/female ratio was 6/7. The five-year IE incidence in Pediatric Cardiology Clinic, Pamukkale University Medical Faculty Hospital, was found to be 2.5 in approximately 100,000 hospital admissions. A predisposing factor was detected in all patients. Six patients (46%) had CHDs, and four patients (31%) had acquired heart disease. The other three (23%) patients were receiving immunosuppressive therapy, and these patients had long-term port catheters. Eight (62%) patients had positive blood cultures. Streptococcus viridans, Streptococcus gordonii, Staphylococcus aureus, coagulase-negativeStaphylococcus, Brucella spp, and Candida albicans were isolated in the blood cultures of these patients. IE-related complications developed in seven (54%) patients. Five (38%) had heart failure, three patients (23%) had thromboembolic events, two (15%) had glomerulonephritis, and one (8%) had thrombophlebitis. Four patients were referred to early surgery. Two patients with recurrent IE attacks were referred to surgery after their treatment was completed.

CONCLUSION: The incidence of IE has shown an increase recently with increased rates of survival attributable to corrective surgeries performed for congenital heart diseases, increased prosthetic materials used in cardiac surgeries, and increased use of permanent catheters. In our study, the incidence of IE was found to be 2.5 in 100,000 hospital admissions. Our results have shown that rheumatic heart diseases, besides CHDs, are still an important risk factor for Turkey. Due to the low number of cases in IE studies in the pediatric population, there is a need for further studies to be conducted in large series in this field.

PMID:36569694 | PMC:PMC9770546 | DOI:10.7759/cureus.31747

Front Cell Dev Biol. 2022 Dec 7;10:1030587. doi: 10.3389/fcell.2022.1030587. eCollection 2022.

ABSTRACT

Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene. Animal models have been generated to mimic CHARGE syndrome; however, heart defects are not extensively described in zebrafish disease models of CHARGE using morpholino injections or genetic mutants. Here, we describe the co-occurrence of craniofacial abnormalities and heart defects in zebrafish chd7 mutants. These mutant phenotypes are enhanced in the maternal zygotic mutant background. In the chd7 mutant fish, we found shortened craniofacial cartilages and extra cartilage formation. Furthermore, the length of the ventral aorta is altered in chd7 mutants. Many CHARGE patients have aortic arch anomalies. It should be noted that the aberrant branching of the first branchial arch artery is observed for the first time in chd7 fish mutants. To understand the cellular mechanism of CHARGE syndrome, neural crest cells (NCCs), that contribute to craniofacial and cardiovascular tissues, are examined using sox10:Cre lineage tracing. In contrast to its function in cranial NCCs, we found that the cardiac NCC-derived mural cells along the ventral aorta and aortic arch arteries are not affected in chd7 mutant fish. The chd7 fish mutants we generated recapitulate some of the craniofacial and cardiovascular phenotypes found in CHARGE patients and can be used to further determine the roles of CHD7.

PMID:36568983 | PMC:PMC9768498 | DOI:10.3389/fcell.2022.1030587

Front Pediatr. 2022 Dec 7;10:1040128. doi: 10.3389/fped.2022.1040128. eCollection 2022.

ABSTRACT

BACKGROUND: Although acquired von Willebrand syndrome (aVWS) has been described in congenital heart disease before, anatomical features leading to aVWS with characteristic reduction or loss of high molecular weight von Willebrand multimers (HMWM) are not well known. This study assesses the prevalence and effects of aVWS in infants with systemic-to-pulmonary shunts (SPS).

METHODS: This retrospective single-center study analyzes diagnostic data of infants with complex congenital heart defects requiring palliation with SPS. During the study period between 12/15-01/17 fifteen consecutive patients were eligible for analysis. Results of von Willebrand factor antigen (VWF:Ag), collagen binding activity (VWF:CB) and von Willebrand factor multimer analysis were included.

RESULTS: In all 15 patients with SPS an aVWS could be found. Blood samples were collected between 5 and 257 days after shunt implantation (median 64 days). None of the patients demonstrated increased bleeding in everyday life. However, 6 out of 15 patients (40%) showed postoperative bleeding complications after SPS implantation. Following shunt excision multimeric pattern normalized in 8 of 10 (80%) patients studied.

CONCLUSIONS: This study shows that in patients undergoing SPS implantation aVWS might emerge. Pathogenesis can be explained by shear stress resulting from turbulent flow within the shunt. Knowledge of aVWS existence is important for the consideration of replacement therapy with von Willebrand factor containing products and antifibrinolytic treatment in bleeding situations. Implementation of methods for rapid aVWS detection is required to achieve differentiated hemostatic therapy and reduce the risk of complications caused by empiric replacement therapy.

PMID:36568413 | PMC:PMC9768211 | DOI:10.3389/fped.2022.1040128

J Tehran Heart Cent. 2022 Apr;17(2):71-74. doi: 10.18502/jthc.v17i2.9842.

ABSTRACT

Congenital anomalous coronary arteries (CACAs) comprise an important variant of the coronary vasculature. They are benign in the vast majority of cases, whereas a small minority may be affected by serious consequences such as myocardial infarction, arrhythmia, cardiac arrest, and even death. We herein describe a 62-year-old man with sudden and severe substernal chest pain; Q waves in electrocardiographic leads II, III, and aVF; and positive serum troponin I enzyme. Left heart cardiac catheterization revealed triple coronary vessel disease with a 60% to 70% occlusion in the left main coronary artery (LMCA). The left anterior descending (LAD) and the left circumflex artery arose from the ostium of the right coronary artery. Additionally, a rudimentary type IV dual LAD originated from the LMCA. A coronary artery bypass graft surgery was performed using a left internal mammary artery graft for the LAD and a saphenous vein graft for the diagonal branches (I & II) of the LAD and the posterior descending artery. The patient was discharged after an uneventful 1-week hospital course.

PMID:36567935 | PMC:PMC9748230 | DOI:10.18502/jthc.v17i2.9842

J Cardiothorac Surg. 2022 Dec 24;17(1):337. doi: 10.1186/s13019-022-02068-2.

ABSTRACT

PURPOSE: Blood transfusion is a common and life-saving procedure in congenital heart surgery (CHS), and it is critical for patients to identify risk factors prior to surgery. Our objective is to conduct an analysis of the preoperative factors that influence blood use during CHS and to offer guidance on preoperative blood preparation.

METHODS: A total of 1550 cases were retrospectively analyzed in our institution between May 2019 and June 2020. We determined whether to employ red blood cells (RBCs), platelets, and plasma as dependent variables; we treated the data from characteristics and laboratory tests as binary data, except for the Risk Adjustment for Congenital Heart Surgery (RACHS) methods as multinomial data, and finally taken into binary logistic regression analysis.

RESULTS: The total amounts of transfused RBCs, platelets, and plasma were 850.5 U (N = 713, 46%), 159 U (N = 21, 1.4%), and 1374.2 U (N = 953, 61.5%), respectively. Multivariate analysis found age (OR 0.142, 95% CI 0.099-0.203, P < 0.001), weight (0.170, 0.111-0.262, P < 0.001) RACHS method (RACHS2 vs. RACHS1, 3.444, 2.521-4.704, P < 0.001; RACHS3 vs. RACHS1, 9.333, 4.731-18.412, P < 0.001; RACHS4 vs. RACHS1, 31.327, 2.916-336.546, P = 0.004), and hemoglobin (0.524, 0.315-0.871, P = 0.013) to be independent risk predictors of RBC transfused volume; age (9.911, 1.008-97.417, P = 0.049), weight (0.029, 0.003-0.300, P = 0.029), RACHS method (RACHS3 vs. RACHS1, 13.001, 2.482-68.112, P = 0.002; RACHS4 vs. RACHS1, 59.748, 6.351-562.115, P < 0.001) to be platelets; and age (0.488, 0.352-0.676, P < 0.001), weight (0.252, 0.164-0.386, P < 0.001), RACHS method (RACHS2 vs. RACHS1, 2.931, 2.283-3.764, P < 0.001; RACHS3 vs. RACHS1, 10.754, 4.751-24.342, P < 0.001), APTT (1.628, 1.058-2.503, P = 0.027), and PT (2.174, 1.065-4.435, P = 0.033) to be plasma.

CONCLUSION: Although patients' age, weight, routine blood test, coagulation function, and protein levels should all be considered for preparing blood before CHS, the RACHS method is the most important factor influencing intraoperative blood transfused volume and should be considered first in clinical blood preparation.

PMID:36566199 | PMC:PMC9789642 | DOI:10.1186/s13019-022-02068-2

J Am Heart Assoc. 2022 Dec 24:e027477. doi: 10.1161/JAHA.122.027477. Online ahead of print.

ABSTRACT

Background The lifetime burden of morbidity in patients with isolated congenital ventricular septal defect (VSD) is not completely described. Methods and Results In a population-based cohort study in Denmark using nationwide medical registries, we included 8006 patients diagnosed with a congenital VSD before 2018 along with 79 568 randomly selected controls from the general Danish population matched by birth year and sex. Concomitant congenital cardiac malformations and chromosomal abnormalities were excluded. Cox proportional hazard regression, Fine and Gray competing risk regression, and Kaplan-Meier survival function were used to estimate burden of morbidity, compared with matched controls. Median follow-up was 23 years (interquartile range, 11-37 years). The hazard ratio (HR) of heart failure was high in both patients with unrepaired and surgically closed VSD when compared with their corresponding matched controls (5.4 [95% CI, 4.6-6.3] and 30.5 [95% CI, 21.8-42.7], respectively). Truncated analyses with time from birth until 1 year after VSD diagnosis (unrepaired) or surgery (surgically closed) censored revealed reduced but persisting late hazard of heart failure. Similarly, the late hazard of arrhythmias and pulmonary arterial hypertension was high irrespective of defect closure. The HR of endocarditis was 28.0 (95% CI, 19.2-40.9) in patients with unrepaired defect and 82.7 (95% CI, 37.5-183.2) in patients with surgically closed defect. The increased HR diminished after VSD surgery. In general, the incidence of morbidity among patients with unrepaired VSD accelerated after the age of 40 years. Conclusions Patients with isolated congenital VSD carry a substantial burden of cardiovascular morbidity throughout life, irrespective of defect closure.

PMID:36565179 | DOI:10.1161/JAHA.122.027477

Cell. 2022 Dec 22;185(26):4937-4953.e23. doi: 10.1016/j.cell.2022.11.028.

ABSTRACT

To define the multi-cellular epigenomic and transcriptional landscape of cardiac cellular development, we generated single-cell chromatin accessibility maps of human fetal heart tissues. We identified eight major differentiation trajectories involving primary cardiac cell types, each associated with dynamic transcription factor (TF) activity signatures. We contrasted regulatory landscapes of iPSC-derived cardiac cell types and their in vivo counterparts, which enabled optimization of in vitro differentiation of epicardial cells. Further, we interpreted sequence based deep learning models of cell-type-resolved chromatin accessibility profiles to decipher underlying TF motif lexicons. De novo mutations predicted to affect chromatin accessibility in arterial endothelium were enriched in congenital heart disease (CHD) cases vs. controls. In vitro studies in iPSCs validated the functional impact of identified variation on the predicted developmental cell types. This work thus defines the cell-type-resolved cis-regulatory sequence determinants of heart development and identifies disruption of cell type-specific regulatory elements in CHD.

PMID:36563664 | DOI:10.1016/j.cell.2022.11.028

Cardiol Young. 2022 Dec 23:1-14. doi: 10.1017/S1047951122003791. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVE: The Residual Lesion Score is a novel tool for assessing the achievement of surgical objectives in congenital heart surgery based on widely available clinical and echocardiographic characteristics. This article describes the methodology used to develop the Residual Lesion Score from the previously developed Technical Performance Score for five common congenital cardiac procedures using the RAND Delphi methodology.

METHODS: A panel of 11 experts from the field of paediatric and congenital cardiology and cardiac surgery, 2 co-chairs, and a consultant were assembled to review and comment on validity and feasibility of measuring the sub-components of intraoperative and discharge Residual Lesion Score for five congenital cardiac procedures. In the first email round, the panel reviewed and commented on the Residual Lesion Score and provided validity and feasibility scores for sub-components of each of the five procedures. In the second in-person round, email comments and scores were reviewed and the Residual Lesion Score revised. The modified Residual Lesion Score was scored independently by each panellist for validity and feasibility and used to develop the "final" Residual Lesion Score.

RESULTS: The Residual Lesion Score sub-components with a median validity score of ≥7 and median feasibility score of ≥4 that were scored without disagreement and with low absolute deviation from the median were included in the "final" Residual Lesion Score.

CONCLUSION: Using the RAND Delphi methodology, we were able to develop Residual Lesion Score modules for five important congenital cardiac procedures for the Pediatric Heart Network's Residual Lesion Score study.

PMID:36562256 | DOI:10.1017/S1047951122003791

Medicina (Kaunas). 2022 Dec 15;58(12):1849. doi: 10.3390/medicina58121849.

ABSTRACT

Background and Objectives: The closure of perimembranous ventricular septal defects (VSDs) is one of the most common surgeries performed in infancy. The technique of detachment of the anterior and septal leaflets of the tricuspid valve (TV) with subsequent leaflet augmentation is frequently used for isolated as well as non-isolated VSD closure. In this study, we compared the incidence of tricuspid regurgitation (TR) in patients who underwent a VSD repair with and without detachment of the TV in the short- and long-term follow-up. Materials and Methods: A retrospective study that included 140 patients who underwent perimembranous VSD closure at our center from 2011-2016, where 102 of these patients underwent the procedure with detachment of the TV, was performed. The follow-up data were obtained from postoperative echocardiography performed in the follow-up visits. A total of 62 patients underwent follow-up at our center, where the follow-up time ranged from 1 to 9 years, with a mean of 71 ± 2.47 months. Results: Regarding patients who underwent a VSD repair with a detachment of the TV, 98.1% of the patients had none to mild TR, compared to 94.7% in patients without intraoperative TV detachment at the time of discharge. There were no reported cases of moderate to severe TR, atrioventricular blocks, aortic insufficiency, or deaths. A total of 98.1% of patients who underwent follow-up at our center with a TV detachment had none to mild TR compared to 94.7% in the group without TV detachment. Conclusion: TV detachment with leaflet augmentation for VSD closure is safe and effective and does not increase the incidence of TR in the short- and long-term follow-up.

PMID:36557051 | PMC:PMC9787562 | DOI:10.3390/medicina58121849

J Pers Med. 2022 Dec 16;12(12):2074. doi: 10.3390/jpm12122074.

ABSTRACT

Mitral valve disease is the most common heart valve disease worldwide. Surgical mitral valve replacement or repair has been an established therapy in patients with severe mitral valve disease for many years. On the other hand, many patients with advanced mitral valve disease and severe comorbidities are treated conservatively and are excluded from the surgical procedure. Furthermore, in patients with severe comorbidities, transcatheter mitral valve repair by edge-to-edge technique with MitraClip or transcatheter mitral valve repair with a non-absorbable ring have been added as therapeutic options over the last few years. Alternative procedures for the treatment of patients with advanced prosthetic or native mitral valve diseases include transcatheter access for replacement or implantation of a new prosthetic valve in the diseased mitral valve. Promising results were published about short-term outcomes of patients who underwent the transcatheter mitral valve replacement. The current view and results of the transcatheter mitral valve implantation in patients with advanced native or prosthetic mitral valve disease are briefly discussed.

PMID:36556294 | PMC:PMC9783604 | DOI:10.3390/jpm12122074

Genes (Basel). 2022 Dec 10;13(12):2334. doi: 10.3390/genes13122334.

ABSTRACT

BACKGROUND: Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22q112.DS adolescents/adults without major intracardiac CHDs, analyzed the progression over time and investigated correlations with extracardiac comorbidities.

METHODS: AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected.

RESULTS: Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08-3.01), eight (33.3%) of a moderate/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60-2.85). The risk of ARD was significantly directly related to skeletal/connective tissue disorders (OR 12.82, 95% CI 1.43-115.31; p = 0.023) and inversely related to BMI (OR 0.86, 95% CI 0.77-0.97; p = 0.011). A significant increase in AR diameter's absolute value (p = 0.001) over time has been detected.

CONCLUSION: Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.

PMID:36553601 | PMC:PMC9778342 | DOI:10.3390/genes13122334

Children (Basel). 2022 Dec 14;9(12):1964. doi: 10.3390/children9121964.

ABSTRACT

BACKGROUND: Progressive Familial Intrahepatic cholestasis type I (PFIC1) is a rare congenital hepatopathy causing cholestasis with progressive liver disease. Surgical interruption of the enterohepatic circulation, e.g., surgical biliary diversion (SBD) can slow down development of liver cirrhosis. Eventually, end stage liver disease necessitates liver transplantation (LT). PFIC1 patients might develop diarrhea, graft steatosis and inflammation after LT. SBD after LT was shown to be effective in the alleviation of liver steatosis and graft injury.

CASE REPORT: Three PFIC1 patients received LT at the ages of two, two and a half and five years. Shortly after LT diarrhea and graft steatosis was recognized, SBD to the terminal ileum was opted to prevent risk for ascending cholangitis. After SBD, inflammation and steatosis was found to be reduced to resolved, as seen by liver biochemistry and ultrasounds. Diarrhea was reported unchanged.

CONCLUSION: We present three PFIC1 cases for whom SBD to the terminal ileum successfully helped to resolve graft inflammation and steatosis.

PMID:36553407 | PMC:PMC9777440 | DOI:10.3390/children9121964

Children (Basel). 2022 Nov 29;9(12):1856. doi: 10.3390/children9121856.

ABSTRACT

BACKGROUND: Necrotising enterocolitis (NEC) is a significant cause of mortality and morbidity in neonates requiring cardiac surgery. Feeding practices vary significantly across institutions and remain controversial. We conducted a systematic review of the literature and a meta-analysis to identify associations between feeding practices and necrotising enterocolitis.

METHODS: This study was carried out in accordance with the PRISMA guidelines. A literature search was performed in November 2022 using the Cochrane Central Register, Embase, and Pubmed. Two investigators then independently retrieved eligible manuscripts considered suitable for inclusion. Data extracted included gestational age, birth weight, sex, nature of congenital heart lesion, type of operation performed, time on ventilator, ICU stay, hospital stay, post-operative feeding strategy, and complications. The methodological quality was assessed using the Downs and Black score for all randomised control trials and observational studies.

RESULTS: The initial search yielded 92 studies. After removing duplicates, there were 85 abstracts remaining. After excluding ineligible studies, 8 studies were included for the meta-analysis. There was no significant risk of NEC associated with pre-operative feeding [OR = 1.22 (95% CI 0.77,1.92)] or umbilical artery catheter placement [OR = 0.91 (95% CI 0.44, 1.89)] and neither outcome exhibited heterogeneity [I2 = 8% and 0%, respectively]. There was a significant association between HLHS and NEC [OR = 2.56 (95% CI 1.56, 4.19)] as well as prematurity and NEC [OR 3.34 (95% CI 1.94, 5.75)] and neither outcome exhibited heterogeneity [I2 = 0% and 0%, respectively].

CONCLUSIONS: There was no association between NEC and pre-operative feeding status in neonates awaiting cardiac surgery. Pre-operative feeding status was not associated with prolonged hospital stay or need for tube assisted feeding at discharge. HLHS and prematurity were associated with increased incidence of NEC.

PMID:36553299 | PMC:PMC9776823 | DOI:10.3390/children9121856