Ionizing radiation-induced intestinal injury (IRIII) reduces survival in nuclear accident victims and compromises the efficacy of abdominal radiotherapy, and current treatment options remain limited. Human defensin 5 (HD5)-derived fragments are endogenous regulators of the gut microbiota, which affects host responses to radiation. However, whether these fragments influence intestinal radiosensitivity or can serve as lead compounds for IRIII therapeutics remains unclear. In this study, we investigated the role of HD5-derived fragments in IRIII and developed AT9(C/G), a potent radioprotective oligopeptide based on the lead fragment AT9. Fecal metagenomic and metabolomic analyses revealed that the oral administration of AT9(C/G) enriches Bifidobacterium pseudolongum and increases lithocholic acid (LCA) levels in the intestine. Both murine and clinical studies demonstrated a negative correlation between IRIII severity and fecal LCA levels. The radioprotective effect of LCA was further validated in both mouse models and human small intestinal organoids. Mechanistically, LCA suppresses ferroptosis in irradiated cells by remodeling lipid metabolism. Specifically, LCA activates Takeda G protein-coupled receptor 5 (TGR5), leading to the upregulation of sterol regulatory element-binding protein 1 (SREBP1), which transcriptionally modulates stearoyl-CoA desaturase 1 (SCD1) to catalyze monounsaturated fatty acid production. Pharmacological inhibition of SCD1 or genetic ablation of G-protein coupled bile acid receptor 1 (Gpbar1, encodes TGR5) attenuates the protective effects of AT9(C/G) in mice. This study establishes that an oligopeptide can modulate gut microbiota-derived LCA to confer intestinal radioprotection, presenting a promising preventive strategy against IRIII.

Mitral regurgitation (MR) is a common valvular heart diseasewhose prevalence continues to increase with population aging, posing a serious threat to human health in the advanced stages of the disease. Sole reliance on medication and traditional surgical treatments can no longer meet the therapeutic needs of all patients. Transcatheter interventional therapy is gradually emerging as a promising new treatment option. Recently, technologies for the transcatheter interventional treatment of MR have advanced rapidly, with expanding indications and a continuous stream of new devices. The field has entered a phase of accelerated development in the treatment of structural heart disease, demonstrating broad clinical prospects. This article reviews the key technologies and developmental trends in the current transcatheter interventional treatments for MR, aiming to provide a theoretical basis and rationale for the safe and standardized implementation and broader adoption of these technologies.

Background Neoadjuvant therapy is crucial for locally advanced gastric cancer (LAGC), yet response varies significantly. Traditional models based on clinicopathological features often lack precision. This study aimed to develop and validate a comprehensive prognostic model integrating deep learning features from CT images and immune scores to improve risk assessment. Methods A total of 179 LAGC patients who received neoadjuvant therapy between 2019 and 2022 were divided into a development cohort (DC, n=125) and an internal validation cohort (IVC, n=54). Additionally, an external validation cohort (EVC) of 29 patients was included. Pre-treatment abdominal enhanced CT images were analyzed using a ResNet18-based deep learning model to extract features and generate a DeepScore via univariate Cox and LASSO regression. ImmuneScore was calculated from postoperative transcriptome data using the ESTIMATE algorithm. A multi-omics nomogram combining DeepScore, ImmuneScore, and ypTNM stage was constructed, calibrated in the development cohort, and validated. Results In the DC, 3-year DFS rates for high, medium, and low DeepScore groups were 83.3%, 71.4%, and 29.3% (P<0.0001); in the IVC, they were 92.0%, 66.7%, and 35.7% (P=0.0011). The integrated nomogram achieved AUCs of 0.858, 0.843, and 0.839 (1-, 2-, 3-year DFS) in the DC, and 0.844, 0.825, and 0.833 in the IVC. In the EVC, the nomogram achieved AUCs of 0.786 and 0.785 for 1- and 2-year DFS, respectively. Low-risk patients showed significantly higher 3-year DFS and OS than high-risk patients in both DC and IVC cohorts (all P<0.001). ssGSEA revealed higher immune infiltration in the low-risk group, and GSEA indicated enrichment in immune-related pathways. Conclusion The integrated model combining deep learning and immune scores enhances prognostic accuracy for LAGC patients after neoadjuvant therapy, offering valuable support for clinical decision-making.

OBJECTIVE:This study aims to develop and validate interpretable machine learning (ML) models to dynamically predict mortality risk among intensive care unit (ICU) patients diagnosed with acute pancreatitis complicated by acute kidney injury (AP-AKI). METHODS:The clinical data in the training set, including demographic characteristics, laboratory indicators, scoring systems, treatment modalities, and clinical management strategies, were obtained from three large-scale medical databases: the Medical Information Mart for Intensive Care, and the eICU Collaborative Research Database. The external validation set consisted of patients recruited from two independent hospitals. Predictive feature selection was conducted using univariate logistic regression, LASSO regularization, and multivariate logistic regression. Eleven machine learning (ML) algorithms-eXtreme Gradient Boosting (XGBoost), Logistic Regression (LR), Adaptive Boosting (AdaBoost), Decision Tree, Gaussian Naive Bayes (GNB), Multi-Layer Perceptron (MLP), Support Vector Machine (SVM), Bernoulli Naive Bayes (BernoulliNB), Linear Discriminant Analysis, LinearSVC, and Stochastic Gradient Descent (SGD)-were employed to develop predictive models. Finally, the SHapley Additive exPlanations (SHAP) method was applied to interpret the importance and directional effects of individual features. RESULTS:Dynamic in-hospital mortality prediction was performed at 24 h, 48 h, and 7 days post-ICU admission, identifying nine to twelve variables respectively. The XGBoost model outperformed 10 other machine learning models, achieving training set AUROCs of 0.961 (95 % CI 0.95-0.97), 0.947 (95 % CI 0.94-0.96), and 0.968 (95 % CI 0.96-0.98) at these time points. The corresponding external validation results were 0.871 (95 % CI 0.79-0.95), 0.799 (95 % CI 0.66-0.94), and 0.667 (95 % CI 0.47-0.87). Regarding 90-day post-discharge mortality prediction, six variables were selected. The XGBoost model demonstrated superior performance, with a training set AUROC of 0.966 (95 % CI 0.96-0.97) and an external validation AUROC of 0.745 (95 % CI 0.61-0.88). CONCLUSION:Web-based prognostic tools were developed to support clinical decision-making and optimize ICU bed resource management.

Prostate cancer (PCa) is a prevalent malignancy in men, traditionally linked to androgen receptor signaling. Emerging evidence suggests thyroid hormones (THs, particularly T3/T4) play a complex role in PCa biology. THs regulate gene transcription via nuclear receptors TRα/β, modulating proliferation, apoptosis, and AR signaling, while non-genomic pathways through integrin αvβ3 activate MAPK/PI3K–Akt signaling, driving metabolic reprogramming, migration, and angiogenesis. Local DIO enzymes fine-tune T3/T4 levels, with DIO2 enhancing proliferation and DIO3 creating a low-TH microenvironment to facilitate immune evasion. Epidemiological studies associate hyperthyroidism or low TSH with elevated PCa risk, whereas experimental models show inconsistent effects, reflecting regulation by hormone levels, receptor distribution, and tumor molecular features. Bibliometric analyses reveal a shift from epidemiological studies to molecular, immune, and metabolic mechanistic research, though clinical translation remains limited. This review synthesizes current knowledge on THs in PCa, highlighting mechanistic insights, evidence gaps, and future directions, aiming to inform early detection, stratification, and therapeutic strategies.

To explore the feasibility, safety, and effectiveness of brachytherapy of locally advanced bladder cancer, clinical data of 86 patients with locally advanced bladder cancer treated in the Department of Urology Surgery, Shanxi Provincial Cancer Hospital, between January 2015 and June 2019 were analyzed retrospectively. The patients were categorized into the study (n = 45) and control (n = 41) groups according to the treatment methods. Patients in the study group were treated with brachytherapy (intraoperative implantation of radioactive particles) + neoadjuvant chemotherapy (NAC), and those in the control group were treated with NAC. Patients in both groups underwent radical cystectomy (RC) + pelvic lymph node dissection. Postoperative pathological examinations proved that patients in both groups had urothelial carcinoma at stage pT3-pT4. The endpoints included 3-y locoregional recurrence-free survival (LRFS), distant metastasis-free survival (DMFS), disease-free survival (DFS), overall survival (OS), and adverse events after treatment. The efficacy and safety of interstitial implantation of radioactive particles for the treatment of locally advanced bladder cancer were assessed. The patients were followed up for 9-42 months. The 3-y LRFS was significantly higher in the study group (88.9%) than in the control group (60.9%) (p = .003). The 3-y DMFS in the study group (71.1%) and the control group (73.2%) was statistically similar (p = .945). The 3-y DFS and OS were not statistically significant between the two groups (DFS: study group 64.4% vs. control group 51.2%, p = .073; OS: study group 66.7% vs. control group 58.5%, p = .180). Local shifting of the particles was detected in three patients at 1 week to 1 month after the operations in the study group, but no related complications were observed. Blood events (anemia, leukocytopenia, and thrombocytopenia), liver and renal dysfunction, vomiting, diarrhea, and weakness were the major adverse reactions, which were alleviated after symptomatic treatments. The results have not statistically significant differences between the two groups in major adverse reactions. Compared to the NAC group, brachytherapy + NAC significantly prolongs the LRFS of patients with locally advanced urothelial bladder carcinoma who underwent RC + pelvic lymph node dissection. This surgery increases the LRFS, develops better personalized treatment plans, and improves treatment effectiveness. In addition, the treatment is safe and effective, with only limited adverse effects.

Background:Muscle-invasive bladder cancer (MIBC) is highly aggressive with poor prognosis. Radical cystectomy (RC) with urinary diversion, the standard treatment, impairs patients' quality of life. This study explored modified partial cystectomy (MPC) as a bladder-preserving option, assessing oncological control, perioperative outcomes, and quality of life. Methods:Patients who underwent partial cystectomy for urothelial carcinoma at the Affiliated Cancer Hospital of Guangzhou Medical University between January 2020 and January 2022 were included. Some received standard laparoscopic partial cystectomy (LPC), while others received MPC with laparoscopic pelvic lymph node dissection and open tumor resection. These were compared with a gold standard group undergoing RC and lymph node dissection, evaluating perioperative, functional, and oncological outcomes. Results:Among the 57 patients (16 MPC, 18 LPC, 23 RC), LPC patients were older, RC tumors were more commonly located on the trigone, and tumors in the RC group were larger. Major complications were 21.7% in RC, vs. 5.5% in LPC and 6.2% in MPC (P<0.001). Positive margins occurred in 16.67% of LPC patients, and none occurred in MPC or RC (P=0.03). MPC and LPC had similar quality-of-life scores. After 36 months of follow-up, relapse rates were 34.7% in RC, 33.3% in LPC, and 6.2% in MPC (P=0.19). MPC had significantly longer 3-year recurrence-free survival than LPC (P=0.048) and RC (P=0.034), with comparable overall survival across groups. Conclusions:MPC surpasses LPC in tumor resection, reducing recurrence and enhancing survival. MPC also achieves similar oncological results to RC, making it a promising bladder-preserving alternative for MIBC patients.

Cardiac hypertrophy is one of the significant causes of heart failure and is closely related to the rising rate of hospitalization and readmissions. Given the diverse regulatory roles of alternative splicing in cardiovascular diseases, RNA-binding proteins have attracted increasing research attention. Here, for the first time, we discovered elevated expression of RBMS1 in heart tissues of patients with dilated cardiomyopathy and in mice with cardiac hypertrophy. We demonstrated that RBMS1 activated the PI3K/AKT signaling pathway by promoting the splicing CTTN to generate CTTN-Δe11 splicing isoform, resulting in cytoskeleton and sarcomere damage in cardiomyocytes. Additionally, pharmacological inhibition of RBMS1 by nortriptyline alleviated cardiac hypertrophy and heart failure. These results provide a new perspective for developing novel therapeutic approaches for cardiac hypertrophy and establish a theoretical basis for targeting RBMS1 in the clinical treatment of cardiac hypertrophy.

BACKGROUND:A thrombus straddling patent foramen ovale (PFO) is rare. We present a case of timely diagnosis and surgical management of a life-threatening straddling thrombus in a PFO and pulmonary embolism, utilizing advanced imaging techniques and emergency thrombectomy. CASE SUMMARY:We used multimodality imaging (transthoracic echocardiography, transesophageal echocardiography, computed tomography angiography) to confirm and assess a straddling thrombus in the PFO and pulmonary artery, identifying key findings such as a snake-like thrombus crossing the PFO and pulmonary thromboembolism, and performed emergency surgical thrombectomy to remove the thrombus, prevent embolism, and reduce mortality risk. DISCUSSION:Limited literature describes PFO-straddling thrombus via advanced imaging. Sharing this case highlights timely diagnosis for risk reduction and surgical planning. TAKE-HOME MESSAGES:Straddling thrombi in the PFO are rare but life-threatening, requiring prompt diagnosis and surgical intervention. Advanced imaging is critical for accurate diagnosis and treatment planning. Surgical thrombectomy significantly reduces mortality, emphasizing the need for timely and aggressive management.

Background Myocardial fibrosis is an important pathological feature of dilated cardiomyopathy (DCM). The roles of SOCS2 in fibrosis of different organs are controversial. Herein, we investigated the function and potential mechanism of SOCS2 in myocardial fibrosis. Methods Bioinformatics, immunohistochemistry (IHC), immunofluorescence (IF), western blot (WB), real-time fluorescence quantitative PCR (qPCR), rat primary myocardial fibroblasts (rCFs) culture, doxorubicin (DOX) induced mouse dilated cardiomyopathy (DCM) model, and in vivo adeno-associated virus (AAV) infection were used to explore the role of SOCS2 in DCM. Results Bioinformatics analysis showed that SOCS2 was positively correlated with fibrosis related factors. SOCS2 was significantly upregulated in patients and mice with DCM. In vivo experiments showed that targeted inhibition of cardiac SOCS2 could improve mouse cardiac function and alleviate myocardial fibrosis. Further research demonstrated that SOCS2 promoted the transformation of myofibroblasts. Knockdown of SOCS2 reduced the nuclear localization of β-catenin, which inhibited the fibrogenic effect of Wnt/β-catenin pathway. In addition, bioinformatics analysis suggested that lymphoid enhancer binding factor 1 (LEF1) was significantly positively correlated with SOCS2. Finally, dual luciferase assays demonstrated that LEF1 could bind to the promoter region of SOCS2, thereby mediating its transcriptional activation. Conclusion SOCS2 could activate the Wnt/β-catenin by regulating the nuclear translocation of β-catenin, which induces the transcriptional activation of SOCS2. Overall, these results indicated a positive feedback activation phenomenon between SOCS2, β-catenin and LEF1 in DCM. These results suggested that inhibition of SOCS2 could effectively alleviate the progression of myocardial fibrosis and improve cardiac function.

Neoadjuvant chemotherapy assessment is imperative for prognostication and clinical management of locally advanced gastric cancer. We propose an incremental supervised contrastive learning model (iSCLM), an interpretable artificial intelligence framework integrating pretreatment CT scans and H&E-stained biopsy images, for improved decision-making regarding neoadjuvant chemotherapy. We have constructed and tested iSCLM using retrospective data from 2,387 patients across 10 medical centers and evaluated its discriminative ability in a prospective cohort (132 patients; ChiCTR2300068917). iSCLM achieves areas under receiver operating characteristic curves of 0.846-0.876 across different test cohorts. Computed tomography (CT) and pathological attention heatmaps from Shapley additive explanations and global sort pooling illustrate additional benefits for capturing morphological features through supervised contrastive learning. Specifically, pathological top-ranked tiles exhibit decreased distances to tumor-invasive borders and increased inflammatory cell infiltration in responders compared with non-responders. Moreover, CD11c expression is elevated in responders. The developed interpretable model at the molecular pathology level accurately predicts chemotherapy efficacy.

Background The aberrant secretion and excessive deposition of type I collagen (Col1) are important factors in the pathogenesis of myocardial fibrosis in dilated cardiomyopathy (DCM). However, the precise molecular mechanisms underlying the synthesis and secretion of Col1 remain unclear. Methods and results RNA-sequencing analysis revealed an increased HtrA serine peptidase 1 (HTRA1) expression in patients with DCM, which is strongly correlated with myocardial fibrosis. Consistent findings were observed in both human and mouse tissues by immunoblotting, quantitative reverse transcription polymerase chain reaction (qRT-PCR), immunohistochemistry, and immunofluorescence analyses. Pearson’s analysis showed a markedly positive correlation between HTRA1 level and myocardial fibrosis indicators, including extracellular volume fraction (ECV), native T1, and late gadolinium enhancement (LGE), in patients with DCM. In vitro experiments showed that the suppression of HTRA1 inhibited the conversion of cardiac fibroblasts into myofibroblasts and decreased Col1 secretion. Further investigations identified the role of HTRA1 in promoting the formation of endoplasmic reticulum (ER) exit sites, which facilitated the transportation of Col1 from the ER to the Golgi apparatus, thereby increasing its secretion. Conversely, HTRA1 knockdown impeded the retention of Col1 in the ER, triggering ER stress and subsequent induction of ER autophagy to degrade misfolded Col1 and maintain ER homeostasis. In vivo experiments using adeno-associated virus-serotype 9-shHTRA1-green fluorescent protein (AAV9-shHTRA1-GFP) showed that HTRA1 knockdown effectively suppressed myocardial fibrosis and improved left ventricular function in mice with DCM. Conclusions The findings of this study provide valuable insights regarding the treatment of DCM-associated myocardial fibrosis and highlight the therapeutic potential of targeting HTRA1-mediated collagen secretion.

In this study, we aim to investigate the therapeutic effect and safety of ALK inhibitor in ALK-positive lung cancer patients. 59 patients with ALK-positive lung cancer from August 2013 to August 2022 were retrospectively recruited. The basic information, pathological type, clinical stage and treatment strategy were collected. These patients were divided into two groups, including 29 patients of conventional adjuvant chemotherapy, and 30 cases of targeted therapy. The patients in the targeted therapy group underwent adjuvant targeted therapy with crizotinib for 2 years. The observation indicators include curative effects and adverse events. The disease-free survival (DFS) and overall survival (OS) were also analyzed. We analyzed the pathological stages after adjuvant chemotherapy and targeted therapy in lung cancer, no significant difference in the p stage N and T was found between the two therapeutic groups. However, the DFS events, DFS median time and OS median time showed significant improvement in the targeted therapy group when compared with adjuvant chemotherapy (all P < 0.05). Besides, the patients under both therapeutic regimens presented some adverse events, among them elevated aspartate transaminase/alanine aminotransferase was the most common adverse event in all the patients, followed by nausea and vomiting. Our study identified that crizotinib-based postoperative targeted therapy helps improve the prognosis of patients with ALK-positive lung cancer, confirming that postoperative targeted therapy can be considered an effective and feasible therapeutic alternative.

The property of inherent stemness of tumor cells coupled with the development of chemoresistance results in a poor prognosis for patients with liver cancer. Therefore, the present study focused on microRNA (miR)-122, a potential tumor suppressor, the expression of which has been previously shown to be significantly decreased and negatively associated with cancer cell stemness in liver cancer. The present study aimed to identify the molecular targets of miR-122 whilst uncovering the mechanism underlying chemoresistance and stemness of HepG2 cells in liver cancer. Bioinformatics online tools, such as ENCORI, coupled with dual-luciferase reporter assays in HepG2 cells, were used to identify and validate small ubiquitin-like modifier (SUMO) specific peptidase 1 (SENP1) as a potential target of miR-122 in liver cancer. The liver cancer stem cell population was determined using sphere formation assays and flow cytometry, whilst stem cell markers (Oct3/4, Nanog, B lymphoma Mo-MLV insertion region 1 homolog and Notch1) were detected by reverse transcription-quantitative PCR. Chemoresistance, cell proliferation and migratory ability of HepG2 cells were monitored using Cell Counting Kit-8, colony formation and Transwell assays, respectively. The overexpression of miR-122 by mimic transfection led to a significant decrease in the number spheres, downregulation of stem cell marker expression, the number of CD24+ cells, drug-resistance protein levels (P-glycoprotein and multidrug resistance protein), impaired chemoresistance, proliferation and migration of HepG2 cells. The transfection of SENP1 overexpression vector resulted in contrasting functions to miR-122 mimics, by partially reversing the effects induced by miR-122 mimic transfection in HepG2 cells. Wnt/β-catenin signaling has been proven to be involved in cancer stemness and malignant behavior. Western blotting analysis in HepG2 cells showed that the expression levels of both Wnt1 and β-catenin were significantly reduced after overexpressing miR-122, but increased after overexpressing SENP1. Co-transfection with the SENP1 overexpression vector reversed the suppression induced by the miR-122 mimics on Wnt1 and β-catenin expression. Co-immunoprecipitation, SUMOylation and half-life assays showed SENP1 interacted with β-catenin and decreased the SUMOylation of β-catenin, thereby enhancing its stability. Finally, tumor xenograft analyses revealed that HepG2 cells transfected with Agomir-122 exerted significantly lower tumor initiation frequency and growth rate, and a superior response to DOX in vivo, compared with those transfected with Agomir NC. Taken together, data from the present study miR-122/SENP1 axis can regulate β-catenin stability through de-SUMOylation, thereby promoting stemness and chemoresistance in liver cancer.

Background: Improved risk stratification for non-small cell lung cancer (NSCLC) represents a critical unmet need. A Clinical Laboratory Improvement Amendments (CLIA)-certified, 14-gene, quantitative PCR (qPCR)-based expression assay was found to better stratify mortality risk. The association of molecular risk stratification with other clinicopathological, radiomic, and genetic risk factors have not been fully identified, especially in Chinese NSCLC patients (pts). Methods: We newly recruited 102 early-stage non-squamous NSCLC pts who had undergone complete surgical resection. RNA was extracted from tumor tissue specimens and prospective molecular risk stratification by the 14-gene prognostic assay was performed. Gene mutation status and tumor mutational burden (TMB) were evaluated. Histological sections and clinical records were reviewed for canonical prognostic indicators that have been reported to be associated with lung cancer risk. Results: Of the 102 pts, the mean age was 55 years, 66 (64.7%) were female, and 18 (17.7%) had a smoking history. The majority of pts (84, 82.4%) were stage I, with 1 atypical adenomatous hyperplasia (AAH), 6 adenocarcinomas in situ (AIS), 1 stage II, and 2 stage III. 64 pts were deemed low-risk by molecular testing, 24 were intermediate-risk, and 14 were high-risk. The pts of AAH and AIS were all in the low-risk group. The maximum tumor diameter (MTD) in the high-risk group was the highest. There were no significant differences in age, sex, smoking status, pathologic stage, NCCN risk criteria, micropapillary or solid (MP/S) pattern, or the number of lesions between the three groups. The most common driver mutations were EGFR (65%), TP53 (28%), and RBM10 (13%). The molecular risk stratification had a significant association with TP53 (p = 0.013), TP53 loss of function (LOF, p = 0.01), KRAS (p = 0.011), and APC mutation (p = 0.05), but not with EGFR mutation and co-mutational status. TMB in the low-risk pts was significantly lower than in other pts (p = 0.007). The low-risk pts had lower SUVmax (p = 0.076), significantly lower mean CT value (p = 0.023), and mean enhanced CT value (p = 0.005) compared with others. In the NCCN low-risk pts, 25 were molecular low-risk, 12 were intermediate-risk, and 9 were high-risk. The risk stratification showed a significant association with SUVmax, TP53 mutation, and TMB in the NCCN low-risk pts. Pearson correlation showed the molecular risk score was significantly associated with MTD, TMB, SUVmax, mean CT value, mean enhanced CT value, and max CT value. SUVmax showed the strongest correlation with the risk score. Conclusion: The molecular risk stratification by the 14-gene assay was associated with canonical prognostic indicators, like TP53 LOF, TP53, KRAS, APC mutation, TMB, mean CT value, and mean enhanced CT value. Our study provides more evidence of the clinical utility of the qPCR-based prognostic assay. Citation Format: Naixin Liang, Jianchao Xue, Ming Zhao, Bowen Li, Yadong Wang, Zhicheng Huang, Yankai Xia, Ruirui Li, Zhongxing Bing, Zhibo Zheng, Jianpeng Zhang, Bin Wang, Zhe Feng, Xinyu Liu, Haochen Li, Xiaoqing Yu, Yang Song. Comparison of risk factors to molecular risk stratification in Chinese early-stage non-squamous non-small cell lung cancer patients [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 3312.

Background The accurate etiology of mitral valve aneurysm (MVA) formation is not completely understood, and the most effective management approach for this condition remains controversial. Methods We retrospectively analyzed 20 MVA patients who underwent either surgical interventions or conservative follow-ups at the Zhongnan Hospital of Wuhan University between 2017 and 2021. We examined their clinical, echocardiographic, and surgical records and tracked their long-term outcomes. Results Of the 20 patients, 12 were diagnosed with MVA using transthoracic echocardiography, seven required additional transesophageal echocardiography for a more definitive diagnosis, and one child was diagnosed during surgery. In all these patients, the MVAs were detected in the anterior mitral leaflet. We found that 15 patients (75%) were associated with infective endocarditis (IE), whereas the remaining patients were associated with bicuspid aortic valve and moderate aortic regurgitation (AR) and mild aortic stenosis (5%), congenital heart disease (5%), elderly calcified valvular disease (5%), mitral valve prolapse (5%), and unknown reasons (5%). Of the 17 patients who underwent hospital surgical interventions, two died due to severe cardiac events. The remaining 15 patients had successful surgeries and were followed up for an average of 13.0 ± 1.8 months. We observed an improvement in their New York Heart Association functional class and mitral regurgitation and AR degrees ( P- value < 0.001). During follow-up, only one infant had an increased left ventricular end-diastolic diameter and left ventricular end-systolic diameter, whereas the remaining 14 patients had decreased values ( P < 0.001). In addition, none of the three conservatively managed patients experienced disease progression during the 7–24 months of follow-up. Conclusions We recommend using echocardiography as a highly sensitive method for MVA diagnosis. Although most cases are associated with IE or AR, certain cases still require further study to determine their causes. A prompt diagnosis of MVA in patients using echocardiography can aid in its timely management.