Search Results (43)

Background/Objectives: The primary objective of PE repair is to relieve compression exerted on the cardiac and pulmonary structures and enhance the thoracic cavity volume. However, the number of volumetric studies of the thoracic cavity, including the heart and lung volumes, is scarce. This study seeks to systematically evaluate the volumetric changes in these structures to assess the physiological impact obtained by PE repair. Methods: A retrospective analysis was conducted on 63 patients who underwent PE repair using the XI bar technique from April 2023 to February 2024. Volumetric changes were measured preoperatively and postoperatively using SYNAPSE 3D imaging software (Version 4.6, Fujifilm, Tokyo, Japan). Cardiac and pulmonary volumes were quantified, and CT indexes (Haller index, Depression index) were assessed. Complication rates, reoperation rates, and length of hospital stay were also analyzed. Results: The mean cardiac volume increased significantly from 458.25 mL preoperatively to 499.13 mL postoperatively (p = 0.018), showing an 8.9% increase. Pulmonary volumes, however, showed no statistically significant change, remaining stable at approximately 4371.31 mL preoperatively and 4266.87 mL postoperatively (p = 0.57). Conclusions: Repairing PE markedly enhances cardiac volume, emphasizing its importance in relieving mediastinal compression. Pulmonary volumes remain largely unaffected, suggesting that PE primarily impacts cardiac structures. Our approach to the volumetric measurements provides valuable insights into the physiological outcomes of chest wall remodeling and is considered to be a good modality for future studies to enhance our understanding of the functional benefits of PE repair. Full article

Background/Objectives: Minimally invasive repair of pectus excavatum (MIRPE) techniques are classified into non-double-bar methods, which elevate the chest wall only, and double-bar methods, which involve both elevation and compression. Our objective was to compare the clinical outcomes of MIRPE procedures between the double-bar and non-double-bar techniques, with a particular focus on bar removal operation time and its associated complications. Methods: This retrospective study included 103 patients who were diagnosed with pectus excavatum and underwent MIRPE between January 2015 and July 2022. Propensity score matching was performed to adjust for confounding variables between patients who underwent the double-bar procedure and those who underwent the non-double-bar procedure. Comparative analyses between the groups were conducted using t-tests and chi-square tests, and linear regression was used to identify the risk factors for a prolonged bar removal time. Results: After propensity score matching, 48 patients were matched, with each group consisting of 24 patients. The double-bar group had a shorter hospital stay after bar insertion (p < 0.001), a reduced bar removal operation time (p < 0.001), and a lower incidence of chest X-ray bony spurs (p = 0.018) compared to the non-double-bar group. Multivariate linear regression model showed non-double-bar use and the presence of a chest X-ray bony spur were significant risk factors for a prolonged bar removal operation time. Conclusions: The double-bar technique demonstrated significant advantages, such as reduced bar removal operation times and fewer complications, making it the preferable surgical approach. Nevertheless, further prospective studies with larger sample sizes are needed to validate these findings. Full article

Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement. Methods: This study analyzed the pathogenic gene and molecular mechanism of two classic homocystinuria families through whole exome sequencing and in vitro experiments including minigene assay and expression analysis. Results: Both probands presented with ectopia lentis, high myopia, and abnormally elevated homocysteine level, but one of them had more severe clinical manifestations, including general growth retardation, mild intellectual disability, and severe pectus excavatum. Their family members were phenotypically normal but presented slightly higher levels of homocysteine in plasma. Whole exome sequencing revealed that the two probands carried c.833T>C (p.Ile278Thr) and c.1359-1G>C, and c.919G>A (p.Gly307Ser) and c.131delT (p.Tle44Thrfs*38) compound heterozygous mutations in the CBS gene, respectively. Bioinformatics and in vitro functional analysis showed that the c.1359-1G>C mutation affects the normal splicing of CBS gene, resulting in the production of two abnormal transcripts and the production of two truncated proteins. One of the c.1359-1G>C splicing events (c.1359_1467del) and c.131delT (p.Tle44Thrfs*38) both lead to a significant decrease in CBS mRNA and protein levels. Conclusions: Accurate diagnosis of patients with homocystinuria is of great importance for timely and effective treatment, as well as for the provision of appropriate genetic counseling and prenatal diagnosis guidance to the affected families. Full article

Background: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy. Noonan syndrome is an autosomal-dominant multisystem disorder with variable expression and is the second most common syndromic cause of congenital heart disease, surpassed only by Down syndrome. A wide spectrum of cardiovascular phenotypes is associated with Noonan syndrome, including pulmonary valve stenosis (often with dysplastic valves), hypertrophic cardiomyopathy, secundum atrial septal defect and mitral valve abnormalities. Methods: Given the limited data in the literature regarding the experience of other centers with endoscopic mitral surgery in patients with this condition, we aim to present the case of a 46-year-old male with a known diagnosis of Noonan syndrome who presented to a cardiologist with a 6-month history of dyspnea and fatigue. Transthoracic echocardiography revealed severe mitral regurgitation. Following multidisciplinary discussions within the Heart Team and after obtaining informed consent from the patient and his family, the decision was made to proceed with totally endoscopic mitral valve repair. Results: The patient experienced an uneventful postoperative course and was discharged 8 days after the procedure. In this case, endoscopic surgery was essential for successfully repairing the mitral valve. Structural abnormalities, such as chest wall deformities causing heart malrotation and atypical positioning, significantly impaired visualization. Conclusions: The endoscopic approach provided superior access to the mitral valve, enabling precise and effective repair. Additionally, it offered benefits such as improved esthetic outcomes, faster recovery, and a reduced risk of exacerbating thoracic deformities due to improper sternal bone healing. Full article

Background: Pectus excavatum, also known as sunken chest or funnel chest, is a structural deformity of the anterior chest wall, characterized by an inward sternum. This condition can lead to respiratory and cardiovascular issues, although it is often addressed for aesthetic reasons. This perspective article reviews the experiences of multiple centers in treating pectus excavatum, to explore whether a clear boundary exists between pathological and aesthetic needs. Methods: The research was conducted on PubMed, using the following targeted search queries to identify relevant studies: “pectus excavatum and surgery”, and “pectus excavatum and conservative treatment.” Additional searches were performed for articles related to the psychological and emotional state of patients with pectus excavatum. Results: Over 2000 articles related to the topic were identified in the literature. Only primary studies from the past 20 years were included, with a focus on centers reporting a minimum of 30 to 50 cases annually. Nearly 60% of these centers perform the Nuss procedure, exclusively. Major complications occurred in 1–2% of cases, particularly when the procedure was performed without videothoracoscopy. Post-surgery, improvements in lung function and exercise capacity were reported, along with significant reductions in depression and anxiety. Conclusions: The decision to pursue surgical correction of pectus excavatum requires a thorough evaluation of both therapeutic and aesthetic factors. A patient-centered approach, considering both the physical and emotional aspects of the condition, is essential for achieving the best possible outcome. Full article

Pectus excavatum (PE) can be associated with either congenital or acquired heart disease. This study highlights the importance of PE surgical repair in cases of severe chest depression on the heart in underlying cardiac diseases exacerbating cardiopulmonary impairment. From January 2023 to March 2024, four male patients underwent PE repair, having heart disease including pericarditis, mitral valve prolapse, ventricular fibrillation arrest and type 1 second-degree atrioventricular block. PE severity was determined by the Haller index (HI). Preoperative assessment included a pulmonary function test, chest computed tomography and cardiac evaluation. The Nuss procedure was performed in three patients, whereas, in one patient, it was performed in combination with a modified Ravitch procedure. The median HI was five. The median time of chest tube removal was 6.5 days. Postoperative complications were prolonged air leak, atrial fibrillation and atelectasis. The median length of hospital stay was 19.5 days, and no 30-day postoperative mortality was recorded. In all patients, surgical repair helped to resolve the underlying cardiological issues, and surgical follow-ups were deemed regular. PE is generally an isolated congenital chest wall abnormality, and, when associated with a heart disease, it can have severe life-threatening hemodynamic consequences due to mechanical compression on the heart for which surgical corrections should be considered. Full article

Objectives: To evaluate correlations between cardiac magnetic resonance imaging (cMRI) at rest including strain imaging and variables derived from quantitative cardiopulmonary exercise testing using a treadmill in patients with pectus excavatum. Methods: We retrospectively correlated the results of cMRI and cardiopulmonary exercise testing in 17 patients with pectus excavatum, in whom both examinations were performed during their pre-operative clinical evaluation. In addition to cardiac volumetry, we assessed the strain rates of both ventricles using a feature-tracking algorithm of a piece of commercially available post-processing software. Results: Right ventricular (RV) ejection fraction correlated negatively with heart rate at anaerobic threshold (rho = −0.543, p = 0.024). A positive correlation between radial strain rate at the RV base and percentage of predicted maximum heart rate (rho = 0.72, p = 0.001) was shown, with equivalent results for circumferential strain rate (rho = −0.64, p = 0.005). Radial strain rate at the RV base correlated in a strongly negative way with maximum oxygen uptake (rho = −0.8, p < 0.001), with a correspondingly positive correlation for circumferential strain rate (rho = 0.73, p = 0.001). Conclusions: Quantitative parameters derived from cMRI at rest, especially those acquired at the most severely compressed RV base, correlated with cardiopulmonary exercise testing variables. The compression of the RV base by the sternum might be partially compensated by an increased strain rate to induce higher heart frequencies during exercise. However, high strain rates were associated with a higher disease severity and a lower maximum oxygen uptake, indicating a limitation of this compensation mechanism. Full article

Background: Opioid-sparing anesthesia (OSA) using dexmedetomidine has gained attention as an alternative to opioid-based anesthesia (OBA) due to its potential to reduce opioid consumption and the associated side effects. This study aimed to investigate the effect of dexmedetomidine-based OSA on postoperative pain intensity, opioid consumption, and recovery outcomes in patients undergoing a minimally invasive repair of pectus excavatum. Methods: Eighty-four patients undergoing a minimally invasive repair of pectus excavatum were randomized to either the OSA group, receiving dexmedetomidine, or the OBA group, receiving remifentanil. The primary outcome was the total amount of analgesics administered within 24 h postoperatively. The secondary outcomes included pain intensity and analgesic consumption over 48 h, recovery outcomes, intraoperative hemodynamics, and opioid-related complications. Results: The OFA group reported a significantly reduced total morphine-equivalent dose within 24 h (55.4 ± 31.1 mg vs. 80.2 ± 26.7 mg, p < 0.001) and lower VAS scores at 24 h (3.9 ± 1.5 vs. 5.4 ± 2.1, p < 0.001). Pain intensity was lower, and analgesic consumption was reduced in the OSA group 1–6, 6–24, and 24–48 h after surgery. Recovery times and intraoperative hemodynamics were comparable between the groups, with no significant differences in opioid-related complications. Conclusions: Dexmedetomidine-based OSA effectively reduces postoperative pain and opioid use without compromising recovery or hemodynamic stability. These findings support its use as a viable alternative to OBA, particularly in the minimally invasive repair of the pectus excavatum. Full article

Background/Objectives: There is limited evidence regarding the impact of the coronavirus disease 2019 (COVID-19) pandemic on the epidemiology of thoracic and cardiovascular diseases. This study aimed to investigate changes in medical visits for these conditions during the COVID-19 pandemic. Methods: We analyzed the entire Korean population (~50 million) for monthly medical visits for 15 common thoracic and cardiovascular conditions, including pneumothorax, large bullae, lung cancer, esophageal cancer, thymoma, empyema, mediastinitis, esophageal rupture, multiple rib fractures, hemothorax, rib mass, varicose vein, pectus excavatum, aortic dissection, aortic aneurysm, and valve disease from January 2019 to December 2021. Data were obtained from the Korean National Health Insurance Service using the International Classification of Disease (ICD)-10 codes. Variations in the mean monthly medical visits of 15 frequent thoracic and cardiovascular diseases before and during the COVID-19 pandemic were compared using the Mann–Whitney U test, while changes in variance were assessed using Levene’s test. Results: The mean monthly number of medical visits for pneumothorax and large bullae significantly decreased during the COVID-19 pandemic compared to before the pandemic (by 10.1% and 12.8%; both p < 0.001). On the contrary, there was a significant increase in the mean monthly counts of medical visits for lung cancer, esophageal cancer, thymoma, and valve disease diagnosis (by 6.6%, 5.3%, 8.8%, and 5.0%, respectively; all p < 0.05). Conclusions: In Korea, the number of diagnosed cases of pneumothorax significantly decreased during the COVID-19 pandemic compared to before COVID-19, while diagnoses of thoracic cancers and valve disease increased. Full article

Background: Pectus excavatum, a deformity of the chest wall, can lead to significant emotional and social challenges, adversely affecting an individual’s overall well-being. While the Nuss procedure is a well-established treatment, this study evaluates the impact of a modified, minimally invasive approach on patients’ quality of life. Methods: This retrospective study analyzed patients who underwent minimally invasive pectus excavatum repair (MIRPE) from 1 January 2010 to 31 January 2024. Collected data included demographics, operative details, and patient outcomes. Health-related quality of life (HRQoL) was assessed using the SF-36 questionnaire, administered preoperatively and at least four weeks post-surgery. Results: Two hundred thirty-four patients (195 male, mean age 20.5 ± 6 years) underwent MIRPE. Postoperative results showed statistically significant improvements in all dimensions of HRQoL (Physical Component Summary Score (PCS) p = 0.007; Mental Component Summary Score (MCS) p < 0.001). Importantly, postoperative HRQoL scores were not just improved but comparable to those of the general German population, providing reassurance and confidence in the effectiveness of MIRPE. Conclusions: This study demonstrates that MIRPE significantly enhances patients’ quality of life (HRQoL). The improvements observed post-surgery bring HRQoL to levels akin to healthy individuals in the German population. These findings underscore the profound positive impact of MIRPE on patients’ well-being, offering hope and optimism for the future of pectus excavatum treatment. Full article

Postural disorders in children and adolescents have an increasing incidence. The aim of this study was to identify the type of postural defects in school-age and preschool children, as well as the external risk factors determined by an inadequate lifestyle. The research included 134 children aged between 5 and 18 years, in whom postural defects were identified. The project involved an examination of the children’s body posture, a survey of the parents to determine the children’s lifestyle, blood tests, and spinal X-rays. A significant percentage (76%) of the children included in the study were underweight. The examination of postural defects in the students revealed scoliosis in 21% of the patients, kyphosis in 7.5%, and lordosis in 1.5%, while 70% of the patients presented an association between at least two postural defects. As far as risk factors are concerned, we identified the presence of rickets sequelae in 70% of the patients, the presence of pectus excavatum in 43% of the patients, genu varum in 15%, and flat foot in 12%. Additionally, 90% of the children had an incorrect posture at the desk, while 42% incorrectly carried their backpack on one shoulder only. In terms of diet quality, associations between an inadequate diet and postural disorders were found for kyphosis, scoliosis, and other deformities. In conclusion, postural abnormalities in children have an increased incidence from an early age and are a result of the change in lifestyle in recent years, represented by sedentarism, a lack of physical activity, the excessive use of electronic devices, stress, and an inadequate diet. Full article

Background: During the last decades, a small number of studies reported a wide range of variability in the estimated prevalence of mitral valve prolapse (MVP) among individuals with pectus excavatum (PE). The present systematic review and meta-analysis has been primarily designed to summarize the main findings of these studies and to estimate the overall prevalence of MVP among PE individuals. Methods: All imaging studies assessing the prevalence of MVP in PE individuals vs. healthy controls, selected from PubMed and EMBASE databases, were included. The risk of bias was assessed by using the National Institutes of Health (NIH) Quality Assessment of Case–Control Studies. Events (presence of MVP) and nonevents (absence of MVP) in PE individuals and control groups were recorded. The main outcome was the measure of odds ratio (OR) for MVP presence pooled with 95% confidence intervals, using a fixed-effects model. Results: The full texts of eight studies with 303 PE patients (mean age 25.7 yrs) and 498 healthy controls (mean age 31 yrs) were analyzed. Three studies assessed MVP prevalence in children and early adolescents, whereas the remaining five studies examined PE adults. The prevalence of MVP in PE individuals and healthy controls was 40.6% and 12.8%, respectively. In the pooled sample, the OR for MVP presence was significantly higher in PE individuals compared to controls (OR = 5.80, 95%CI = 3.83–8.78, Z = 8.30, p < 0.001). Subgroup analysis revealed that MVP prevalence was approximately three-fold higher among PE children and early adolescents compared with PE adults. Overall, high consistency was observed in the pooled effect sizes, due to the low statistical heterogeneity among the included studies (I² = 22.7%, p = 0.25). Egger’s test for a regression intercept gave a p-value of 0.07, indicating no publication bias. The sensitivity analysis supported the robustness of the results. Conclusions: PE individuals are nearly six times more likely to have MVP than controls. MVP prevalence is three-fold higher in PE individuals during childhood and early adolescence, compared to PE adults. Given the strong association between MVP and PE, MVP should be suspected in all individuals with anterior chest wall deformity. Full article

Background/Objectives: Pectus excavatum (PEx) is considered, at least partially, a familial disorder. A variety of inheritance patterns, associations with genetic syndromes, and pathogenic variants have been reported. However, the etiology of this condition is still not completely understood, and no known genes have been identified as definitive contributors. Methods: Family members with a confirmed PEx diagnosis (one proband and two first-degree relatives) and non-affected members were recruited into this study. Exome sequencing was performed on all affected familial PEx cases to systematically screen for candidate genes that are likely to be causative for PEx, and on non-affected family members for variant segregation analysis. Results: Ten families, with three affected members each, participated, providing thirty familial PEx cases. Different inheritance patterns were represented across the ten pedigrees, with possible incomplete penetrance. Genetic variants in REST (essential for neuronal development and associated with pectus deformities in prior studies), SMAD4 (variants can predispose individuals to thoracic aortic diseases), and COL5A (associated with Ehlers–Danlos syndrome and Fibromuscular dysplasia) were initially identified as potentially linked to the development of pectus deformities and segregated with the phenotype. No variants were shared across families in the studied population. Conclusions: Germline exome sequencing of families with multiple individuals affected by PEx in our study identified potential gene candidates linked to PEx. These candidates are private to individual families and no strong candidates shared across multiple families were identified. These findings suggest that the inheritance of PEx may not be strongly related to a shared single genetic variant in known genes. Given the accumulating evidence for the genetic basis of familial PEx, further studies, including polygenic analyses, as well as assessment of the non-coding genome and possible epigenetic markers are warranted. Full article

Background/Objectives: Noonan syndrome (NS) is a genetic multisystem disease characterized by distinctive facial features, short stature, chest deformity, and congenital heart defects. NS is caused by gene variants of the RAS/MAPK pathway, with PTPN11 accounting for about 50% of cases. This study aimed to identify PTPN11 pathogenic variants in Mexican patients with NS to enhance our understanding of the disease in this population. Methods: This study included 91 probands and 60 relatives, all of which were clinically evaluated by a geneticist. Sanger sequencing was used to screen the entire PTPN11 gene. Results: Twenty-one previously reported pathogenic variants were identified in 47.3% of the probands. The most frequently occurring were p.Asn308Asp (16.3%) and p.Met504Val (16.3%). Variants p.Tyr279Cys and p.Thr468Met were found exclusively in patients with lentiginosis. Eighty-three percent of patients carried a variant in one of the three exons (3, 8, or 13) where the greatest genetic diversity was observed. Common clinical findings identified in probands included short stature (82%), cardiac anomalies (70.7%), short neck (68.4%), and pectus excavatum (63.2%), although features represented by only one patient each were also detected. Conclusions: This study confirmed the clinical diagnosis of NS in 43 probands and 11 relatives, and further genetic analysis of the remaining 48 probands is required to identify the causal variant. The genetic and clinical variability observed in our cohort was consistent with reports from other populations, underscoring the importance of comprehensive care for all patients. This research provides the most extensive clinical and molecular characterization of NS in Mexican patients, identifying pathogenic variants of PTPN11. Full article

Background/Objectives: Preoperative fasting guidelines traditionally aim to reduce pulmonary aspiration risk. However, concerns over the adverse effects of prolonged fasting have led to exploring alternatives. This study aimed to investigate the impact of preoperative clear liquid intake on postoperative outcomes in children undergoing minimally invasive repair of pectus excavatum (MIRPE). Methods: A prospective randomized controlled study was conducted on children aged 3–6 years scheduled for elective MIRPE. Patients were randomized into either a routine overnight fasting group (NPO) or a clear liquid group. The incidence and severity of emergence delirium (ED) were assessed using Pediatric Anesthesia Emergence Delirium (PAED) and Watcha scales at recovery room. Postoperative pain scores and opioid requirements were evaluated at intervals of 1–6 h, 6–12 h, and 12–24 h after surgery. Results: Fasting time was 178.6 ± 149.5 min and 608.9 ± 148.4 min in the clear liquid group compared and NPO group, respectively. The incidence of ED, measured by PAED and Watcha scales, was lower in the clear liquid group (PAED score ≥ 12: 55.6% vs. 85.2%, p = 0.037; Watcha score ≥ 3: 51.9% vs. 85.2%, p = 0.019). The highest PAED score recorded in the recovery room was significantly lower in the clear liquid group (11.4 ± 2.8 vs. 14.6 ± 2.8, p < 0.001). Clear liquid group showed significantly lower pain scores at 1–6, 6–12, and 12–24 h postoperatively. Additionally, clear liquid group had lower opioid requirement at 1–6 and 6–12 h postoperatively. Conclusions: Preoperative clear liquid consumption was associated with a lower incidence of ED in pediatric patients undergoing MIRPE. Full article