1.Structure, content and data standardization of rehabilitation medical records
Yaru YANG ; Zhuoying QIU ; Di CHEN ; Zhongyan WANG ; Meng ZHANG ; Shiyong WU ; Yaoguang ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Jian YANG ; Na AN ; Yuanjun DONG ; Xiaojia XIN ; Xiangxia REN ; Ye LIU ; Yifan TIAN
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):21-32
ObjectiveTo elucidate the critical role of rehabilitation medical records (including electronic records) in rehabilitation medicine's clinical practice and management, comprehensively analyzed the structure, core content and data standards of rehabilitation medical records, to develop a standardized medical record data architecture and core dataset suitable for rehabilitation medicine and to explore the application of rehabilitation data in performance evaluation and payment. MethodsBased on the regulatory documents Basic Specifications for Medical Record Writing and Basic Specifications for Electronic Medical Records (Trial) issued by National Health Commission of China, and referencing the World Health Organization (WHO) Family of International Classifications (WHO-FICs) classifications, International Classification of Diseases (ICD-10/ICD-11), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), this study constructed the data architecture, core content and data standards for rehabilitation medical records. Furthermore, it explored the application of rehabilitation record summary sheets (home page) data in rehabilitation medical statistics and payment methods, including Diagnosis-related Groups (DRG), Diagnosis-Intervention Packet (DIP) and Case Mix Index. ResultsThis study proposed a systematic standard framework for rehabilitation medical records, covering key components such as patient demographics, rehabilitation diagnosis, functional assessment, rehabilitation treatment prescriptions, progress evaluations and discharge summaries. The research analyzed the systematic application methods and data standards of ICD-10/ICD-11, ICF and ICHI Beta-3 in the fields of medical record terminology, coding and assessment. Constructing a standardized data structure and data standards for rehabilitation medical records can significantly improve the quality of data reporting based on the medical record summary sheet, thereby enhancing the quality control of rehabilitation services, effectively supporting the optimization of rehabilitation medical insurance payment mechanisms, and contributing to the establishment of rehabilitation medical performance evaluation and payment based on DRG and DIP. ConclusionStructured rehabilitation records and data standardization are crucial tools for quality control in rehabilitation. Systematically applying the three reference classifications of the WHO-FICs, and aligning with national medical record and electronic health record specifications, facilitate the development of a standardized rehabilitation record architecture and core dataset. Standardizing rehabilitation care pathways based on the ICF methodology, and developing ICF- and ICD-11-based rehabilitation assessment tools, auxiliary diagnostic and therapeutic systems, and supporting terminology and coding systems, can effectively enhance the quality of rehabilitation records and enable interoperability and sharing of rehabilitation data with other medical data, ultimately improving the quality and safety of rehabilitation services.
2.Standardization of electronic medical records data in rehabilitation
Yifan TIAN ; Fang XUN ; Haiyan YE ; Ye LIU ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):33-44
ObjectiveTo explore the data standard system of electronic medical records in the field of rehabilitation, focusing on the terminology and coding standards, data structure, and key content categories of rehabilitation electronic medical records. MethodsBased on the Administrative Norms for the Application of Electronic Medical Records issued by the National Health Commission of China, the electronic medical record standard architecture issued by the International Organization for Standardization and Health Level Seven (HL7), the framework of the World Health Organization Family of International Classifications (WHO-FICs), Basic Architecture and Data Standards of Electronic Medical Records, Basic Data Set of Electronic Medical Records, and Specifications for Sharing Documents of Electronic Medical Records, the study constructed and organized the data structure, content, and data standards of rehabilitation electronic medical records. ResultsThe data structure of rehabilitation electronic medical records should strictly follow the structure of electronic medical records, including four levels (clinical document, document section, data set and data element) and four major content areas (basic information, diagnostic information, intervention information and cost information). Rehabilitation electronic medical records further integrated information related to rehabilitation needs and characteristics, emphasizing rehabilitation treatment, into clinical information. By fully applying the WHO-FICs reference classifications, rehabilitation electronic medical records could establish a standardized framework, diagnostic criteria, functional description tools, coding tools and terminology index tools for the coding, indexing, functional description, and analysis and interpretation of diseases and health problems. The study elaborated on the data structure and content categories of rehabilitation electronic medical records in four major categories, refined the granularity of reporting rehabilitation content in electronic medical records, and provided detailed data reporting guidance for rehabilitation electronic medical records. ConclusionThe standardization of rehabilitation electronic medical records is significant for improving the quality of rehabilitation medical services and promoting the rehabilitation process of patients. The development of rehabilitation electronic medical records must be based on the national and international standards. Under the general electronic medical records data structure and standards, a rehabilitation electronic medical records data system should be constructed which incorporates core data such as disease diagnosis, functional description and assessment, and rehabilitation interventions. The standardized rehabilitation electronic medical records scheme constructed in this study can support the improvement of standardization of rehabilitation electronic medical records data information.
3.Standardization of outpatient medical record in rehabilitation setting
Ye LIU ; Qing QIN ; Haiyan YE ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):45-54
ObjectiveTo analyze the data structure and standards of rehabilitation outpatient medical records, to provide data support for improving the quality of rehabilitation outpatient care and developing medical insurance payment policies. MethodsBased on the normative documents issued by the National Health Commission, Basic Standards for Medical Record Writing and Standards for Electronic Medical Record Sharing Documents, in accordance with the Quality Management Regulations for Outpatient (Emergency) Diagnosis and Treatment Information Pages (Trial), reference to the framework of the World Health Organization Family of International Classifications (WHO-FICs), the data framework and content of rehabilitation outpatient medical records were determined, and the data standards were discussed. ResultsThis study constructed a data framework for rehabilitation outpatient medical records, including four main components: patient basic information, visit process information, diagnosis and treatment information, and cost information. Three major reference classifications of WHO-FICs, International Classification of Diseases, International Classification of Functioning, Disability and Health, and International Classification of Health Interventions,were used to establish diagnostic standards and standardized terminology, as well as coding disease diagnosis, functional description, functional assessment, and rehabilitation interventions, to improve the quality of data reporting, and level of quality control in rehabilitation. ConclusionThe structuring and standardization of rehabilitation outpatient medical records are the foundation for sharing of rehabilitation data. The using of the three major classifications of WHO-FICs is valuable for the terminology and coding of disease diagnosis, functional description and assessment, and intervention in rehabilitation outpatient medical records, which is significant for sharing and interconnectivity of rehabilitation outpatient data, as well as for optimizing the quality and safety of rehabilitation medical services.
4.Structure, content and data standardization of inpatient rehabilitation medical record summary sheet
Haiyan YE ; Qing QIN ; Ye LIU ; Yifan TIAN ; Yingxin ZHANG ; Yaru YANG ; Zhongyan WANG ; Meng ZHANG ; Xiaoxie LIU ; Yanyan YANG ; Bin ZENG ; Mouwang ZHOU ; Yuxiao XIE ; Guangxu XU ; Jiejiao ZHENG ; Mingsheng ZHANG ; Xiangming YE ; Fubiao HUANG ; Qiuchen HUANG ; Yiji WANG ; Di CHEN ; Zhuoying QIU
Chinese Journal of Rehabilitation Theory and Practice 2025;31(1):55-66
ObjectiveTo explore the standardization of inpatient rehabilitation medical record summary sheet, encompassing its structure, content and data standards, to enhance the standardization level of inpatient rehabilitation medical record summary sheet, improve data reporting quality, and provide accurate data support for medical insurance payment, hospital performance evaluation, and rehabilitation discipline evaluation. MethodsBased on the relevant specifications of the National Health Commission's Basic Norms for Medical Record Writing, Specifications for Sharing Documents of Electronic Medical Records, and Quality Management and Control Indicators for Inpatient Medical Record Summary Sheet (2016 Edition), this study analyzed the structure and content of the inpatient rehabilitation medical record summary sheet. The study systematically applied the three major reference classifications of the World Health Organization Family of International Classifications, International Classification of Diseases (ICD-10/ICD-11, ICD-9-CM-3), International Classification of Functioning, Disability and Health (ICF), and International Classification of Health Interventions (ICHI Beta-3), for disease diagnosis, functional description and assessment, and rehabilitation intervention, forming a standardized terminology system and coding methods. ResultsThe inpatient rehabilitation medical record summary sheet covered four major sections: inpatient information, hospitalization information, diagnosis and treatment information, and cost information. ICD-10/ICD-11 were the standards and coding tools for admission and discharge diagnoses in the inpatient rehabilitation medical record summary sheet. The three functional assessment tools recommended by ICD-11, the 36-item version of World Health Organization Disability Assessment Schedule 2.0, Brief Model Disability Survey and Generic Functioning domains, as well as ICF, were used for rehabilitation functioning assessment and the coding of outcomes. ICHI Beta-3 and ICD-9-CM-3 were used for coding surgical procedures and operations in the medical record summary sheet, and also for coding rehabilitation intervention items. ConclusionThe inpatient rehabilitation medical record summary sheet is a summary of the relevant content of the rehabilitation medical record and a tool for reporting inpatient rehabilitation data. It needs to be refined and optimized according to the characteristics of rehabilitation, with necessary data supplemented. The application of ICD-11/ICD-10, ICF and ICHI Beta-3/ICD-9-CM-3 classification standards would comprehensively promote the accuracy of inpatient diagnosis of diseases and functions. Based on ICD-11 and ICF, relevant functional assessment result data would be added, and ICHI Beta-3/ICD-9-CM-3 should be used to code rehabilitation interventions. Improving the quality of rehabilitation medical records and inpatient rehabilitation medical record summary sheet is an important part of rehabilitation quality control, and also lays an evidence-based data foundation for the analysis and application of inpatient rehabilitation medical record summary sheet.
5.Primary regional disparities in clinical characteristics, treatments, and outcomes of a typically designed study of valvular heart disease at 46 tertiary hospitals in China: Insights from the China-VHD Study.
Xiangming HU ; Yunqing YE ; Zhe LI ; Qingrong LIU ; Zhenyan ZHAO ; Zheng ZHOU ; Weiwei WANG ; Zikai YU ; Haitong ZHANG ; Zhenya DUAN ; Bincheng WANG ; Bin ZHANG ; Junxing LV ; Shuai GUO ; Yanyan ZHAO ; Runlin GAO ; Haiyan XU ; Yongjian WU
Chinese Medical Journal 2025;138(8):937-946
BACKGROUND:
Valvular heart disease (VHD) has become increasingly common with the aging in China. This study aimed to evaluate regional differences in the clinical features, management strategies, and outcomes of patients with VHD across different regions in China.
METHODS:
Data were collected from the China-VHD Study. From April 2018 to June 2018, 12,347 patients who presented with moderate or severe native VHD with a median of 2 years of follow-up from 46 centers at certified tertiary hospitals across 31 provinces, autonomous regions, and municipalities in Chinese mainland were included in this study. According to the locations of the research centers, patients were divided into five regional groups: eastern, southern, western, northern, and central China. The clinical features of VHD patients were compared among the five geographical regions. The primary outcome was all-cause mortality or rehospitalization for heart failure. Kaplan-Meier survival analysis was used to compare the cumulative incidence rate.
RESULTS:
Among the enrolled patients (mean age, 61.96 years; 6877 [55.70%] male), multiple VHD was the most frequent type (4042, 32.74%), which was mainly found in eastern China, followed by isolated mitral regurgitation (3044, 24.65%), which was mainly found in northern China. The etiology of VHD varied significantly across different regions of China. The overall rate of valve interventions was 32.67% (4008/12,268), with the highest rate in southern China at 48.46% (205/423). In terms of procedure, the proportion of transcatheter valve intervention was relatively low compared to that of surgical treatment. Patients with VHD in western China had the highest incidence of all-cause mortality or rehospitalization for heart failure. Valve intervention significantly improved the outcome of patients with VHD in all five regions (all P <0.05).
CONCLUSIONS:
This study revealed that patients with VHD in China are characterized by significant geographic disparities in clinical features, treatment, and clinical outcomes. Targeted efforts are needed to improve the management and prognosis of patients with VHD in China according to differences in geographical characteristics.
REGISTRATION
ClinicalTrials.gov , NCT03484806.
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
China/epidemiology*
;
Heart Valve Diseases/therapy*
;
Kaplan-Meier Estimate
;
Tertiary Care Centers
;
Treatment Outcome
6.Nose-to-brain delivery of targeted lipid nanoparticles as two-pronged β-amyloid nanoscavenger for Alzheimer's disease therapy.
Yanyan XU ; Xiangtong YE ; Yanfeng DU ; Wenqin YANG ; Fan TONG ; Wei LI ; Qianqian HUANG ; Yongke CHEN ; Hanmei LI ; Huile GAO ; Weiwei ZHANG
Acta Pharmaceutica Sinica B 2025;15(6):2884-2899
Alzheimer's disease (AD), characterized by β-amyloid (Aβ) aggregation and neuroinflammation, remains a formidable clinical challenge. Herein, we present an innovative nose-to-brain delivery platform utilizing lactoferrin (Lf)-functionalized lipid nanoparticles (LNPs) co-encapsulating α-mangostin (α-M) and β-site APP cleaving enzyme 1 (BACE1) siRNA (siB). This dual-modal therapeutic system synergistically combines the neuroprotective and microglia-reprogramming capabilities of α-M with the transcriptional silencing of BACE1 via siB, thereby simultaneously inhibiting Aβ production and enhancing its clearance. Fabricated via a microfluidic approach, the LNPs exhibited uniform particle size distribution, great encapsulation efficiency, and robust colloidal stability. Upon intranasal administration, Lf-functionalization enabled superior brain-targeting efficacy through receptor-mediated transcytosis. In vitro studies demonstrated that α-M reversed Aβ-induced low-density lipoprotein receptor downregulation, promoting microglial phagocytosis and autophagic degradation of Aβ, while siB effectively suppressed BACE1 expression, abrogating Aβ synthesis. In vivo investigations in APP/PS1 transgenic mice revealed remarkable cognitive recovery, substantial Aβ plaque reduction, and alleviation of neuroinflammation and oxidative stress. This intricately designed LNP system, exploiting a non-invasive and efficient nose-to-brain delivery route, provides a biocompatible, synergistic, and transformative therapeutic strategy for the multifaceted management of AD.
7.Mitochondrial energy metabolism in diabetic cardiomyopathy: Physiological adaption, pathogenesis, and therapeutic targets
Wanlin YE ; Kun HAN ; Maodi XIE ; Sheyu LI ; Guo CHEN ; Yanyan WANG ; Tao LI
Chinese Medical Journal 2024;137(8):936-948
Diabetic cardiomyopathy is defined as abnormal structure and function of the heart in the setting of diabetes, which could eventually develop heart failure and leads to the death of the patients. Although blood glucose control and medications to heart failure show beneficial effects on this disease, there is currently no specific treatment for diabetic cardiomyopathy. Over the past few decades, the pathophysiology of diabetic cardiomyopathy has been extensively studied, and an increasing number of studies pinpoint that impaired mitochondrial energy metabolism is a key mediator as well as a therapeutic target. In this review, we summarize the latest research in the field of diabetic cardiomyopathy, focusing on mitochondrial damage and adaptation, altered energy substrates, and potential therapeutic targets. A better understanding of the mitochondrial energy metabolism in diabetic cardiomyopathy may help to gain more mechanistic insights and generate more precise mitochondria-oriented therapies to treat this disease.
8.Expression and clinical significance of hepatocyte growth factor, fibroblast growth factor 2 and phosphatidylinositol 3-kinase/protein kinase B pathways in endometriosis
Tianhui WANG ; Yanyan HOU ; Guoliu YE
Clinical Medicine of China 2024;40(6):437-442
Objective:To investigate the expression and correlation of hepatocyte growth factor (HGF), fibroblast growth factor 2 (FGF-2), and phosphatidylinositol 3-kinase/protein kinase B (PI3K/AKT) pathway in patients with endometriosis. Methods Eighty cases of ovarian chocolate cyst wall tissue samples obtained through laparoscopic surgery at the First Affiliated Hospital of Bengbu Medical University from April 2023 to April 2024 were collected as the ectopic group, and 65 normal endometrial tissue samples from the same period were selected as the control group. The expression of HGF, FGF-2, and PI3K/AKT in both groups was analyzed by immunohistochemistry, and the correlation between the three and the clinical and pathological characteristics of EMs patients was analyzed. The metric data of normal distribution is represented by xˉ± s, and the comparison of means between two groups is conducted using independent sample t-test. The correlation between the two variables was analyzed using Spearman correlation analysis. Using a multiple Logistic regression model to analyze the influencing factors of recurrence in patients with endometriosis. P<0.05 indicates a statistically significant difference. Results:(1) There was no significant difference in the general data (age, height, body mass, body mass index, cyst size) between the ectopic group and the control group ( t values were 1.81, 0.99, 0.83, 0.95, and 1.90, respectively; P values were 0.072, 0.322, 0.409, 0.345, and 0.059, respectively). (2) HGF, FGF-2 and PI3K were mainly expressed in cytoplasm, among which the positive rates of HGF, FGF-2 and PI3K in ectopic group were 78.75% (63/80), 61.25% (49/80) and 71.25% (57/80), respectively. The positive rates of the control group were 58.46% (38/65), 38.46% (25/65) and 47.69% (31/65), respectively, and there was significant difference between the two groups ( χ2 values were 6.98, 7.45, and 7.44, respectively; P values were 0.008, 0.006, 0.006, respectively ). (3) The expressions of HGF, FGF-2 and PI3K were correlated with the clinical stage of EMs patients ( χ2 values were 6.17, 4.30, and 8.65 , respectively; P values were 0.013, 0.038, and 0.003, respectively). However, there was no correlation with age, BMI, cyst size, reproductive history, menstrual cycle, dysmenorrhea degree or place of residence (all P>0.05); (4) The expression of HGF and FGF-2 in ectopic patients was positively correlated ( r=0.590, P<0.05), HGF was positively correlated with PI3K expression ( r=0.750, P<0.05), FGF-2 was positively correlated with PI3K expression ( r=0.629, P<0.05). (5) Multivariate Logistic analysis of recurrence factors in EMs patients showed that FGF-2 was a protective factor for recurrence in EMs patients ( OR=0.201,95% CI 0.048-0.837, P=0.027). Conclusion:The expression of HGF, FGF-2, and PI3K/AKT pathways is upregulated in patients with endometriosis, which may be related to the occurrence and development of the disease. They are expected to play an important role in the diagnosis, staging, and treatment of endometriosis in the future.
9.HuiNet report of 2023: The distribution and antimicrobial resistance profile of clinical bacterial isolates in Anhui
Yanyan LIU ; Yasheng LI ; Liang YU ; Yi YANG ; Ting WU ; Jun YIN ; Lifen HU ; Ying YE ; Jiabin LI
Chinese Journal of Clinical Infectious Diseases 2024;17(2):113-125
Objective:To analyse the distribution and antimicrobial resistance profile of clinical bacterial isolates in Anhui province.Methods:Surveillance data was collected from 83 members of the Anhui Antimicrobial Resistance Surveillance Network(HuiNet)during October 2022 to September 2023,to analyze the resistance of major bacteria to commonly used antibiotics and the detection of clinically common drug-resistant bacteria. The data was analyzed using WHONET 5.6 and SPSS 25.0 software.Results:A total of 201 647 clinical bacteria isolates were collected,with Gram-negative bacteria accounting for 74.8%(150 847/201 647). The most prevalent Gram-positive bacterial strains were Staphylococus aureus(32.8%,16 648/50 800),followed by Staphylococcus epidermidis(14.0%,7 098/50 800), Enterococcus faecalis(10.7%,5 458/50 800), Enterococcus faecium(9.1%,4 613/50 800)and Staphylococcus hominis(7.4%,3 778/50 800);the most prevalent Gram-negative bacterial strains were Escherichia coli(28.9%,43 577/150 847),followed by Klebsiella pneumoniae(22.5%,34 006/150 847), Pseudomonas aeruginosa(14.7%,22 171/150 847), Acinetobacter baumannii complex(9.4%,14 194/150 847)and Enterobacter cloacae(3.5%,5 235/150 847). The prevalence of methicillin-resistant Staphylococcus aureus(MRSA)and methicillin-resistant coagulase-negative Staphylococcus aureus(MRCNS)were 39.5%(6 442/16 325)and 75.7%(12 343/16 312),respectively. No vancomycin- and teicolanin-resistant Staphylococcus were detected. The prevalence of vancomycin-resistant Enterococcus faecium and Enterococcus faecalis were 0.5% and 0.6%,respectively. The prevalence of carbapenem-resistant Escherichia coli and Klebsiella pneumoniae(CR-KPN)were 1.9%(805/42 956)and 11.7%(3 950/33 761),respectively. The resistance rate of CR-KPN to tigecycline was 3.9%. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CR-PAE)and Acinetobacter baumannii(CR-ABA)complex were 18.4%(3 936/21 447)and 62.9%(8 649/13 744),respectively,with low resistance rate to polycolistin B(6.9% and 1.7%,respectively). The detection rates of MRSA,CR-ABA complex,third-generation cephalosporin-resistant Escherichia coli(CTX/CRO-R-ECO)and quinolone-resistant Escherichia coli(QNR-ECO)in northern Anhui were the highest(50.3%,72.9%,59.2% and 55.6%,respectively),which were higher than those in central and southern Anhui( χ2=112.734 and 575.069,132.747 and 233.885,93.986 and 471.209,60.062 and 230.669,all P<0.001),and the detection rate in central Anhui was higher than that in southern Anhui( χ2=278.671,29.219,207.395 and 80.267,all P<0.001). The detection rates of CR-KPN and thirdgeneration cephalosporinresistant Klebsiella pneumoniae(CTX/CRO-R-KPN)in central Anhui were the highest(15.5% and 33.3%,respectively),which were higher than those in northern and southern Anhui( χ2=156.237 and 325.533,76.928 and 180.686,all P<0.001),and the detection rate in northern Anhui was higher than that in southern Anhui( χ2=32.202 and 25.539, P<0.001). The detection rates of CTX/CRO-R-ECO and QNR-ECO were the highest in the elderly(55.2% and 55.8%,respectively),which were higher than those in children,and young and middle aged adults( χ2=23.906 and 120.575,376.404 and 196.612, P<0.001). The detection rate of CTX/CRO-R-KPN in neonates was the highest(57.1%),which was significantly higher than that in children,adults and the elderly( χ2=46.141,38.843 and 32.093, P<0.001),and the detection rate in the elderly was higher than that in children and adults( χ2=13.604 and 13.471, P<0.001). The detection rates of MRSA and MRCNS were the highest in children(42.8% and 77.8%,respectively),which were higher than those in adults( χ2=21.766 and 10.704, P<0.001). Except MRSA and vancomycin-resistant Enterococcus faecium and faecalis,the detection rates of major drug-resistant bacteria in tertiary hospitals were higher than those in secondary hospitals( P<0.05 or <0.01). Conclusion:In 2023,the situation of antimicrobial resistance in Anhui province was serious,especially in northern and central Anhui,and targeted drug resistance control measures should be taken according to the monitoring results. At the same time,it is necessary to pay attention to the bacterial resistance in the elderly,newborns and children,and strengthen the rational use of antibiotics by clinicians to curb the spread of drug-resistant bacteria.
10.Diagnosis and treatment of arrhythmogenic cardiomyopathy in children
Wenqian YE ; Yanyan XIAO ; Xiaokun JIANG ; Mei JIN ; Xiaofang WANG ; Wenhong DING
Chinese Journal of Pediatrics 2024;62(4):363-367
Objective:To summarize the clinical manifestations, experiences in diagnosis and treatment of arrhythmogenic cardiomyopathy (ACM) in children.Methods:A retrospective analysis of the clinical manifestations, laboratory tests, radiological features, treatment and follow-up results was conducted in 11 children diagnosed with ACM at the center of congenital heart disease, Beijing anzhen hospital from May 2010 to March 2022.Results:A total of 11 patients aged 2 to 16 years, including 5 males and 6 females were diagnosed with ACM. The clinical manifestations included decreased activity tolerance (7 patients), heart failure (4 patients), syncope or sudden death (3 patients), palpitation (3 patients), and chest tightness and pain (3 patients). Electrocardiogram showed right bundle branch block in 9 cases, paroxysmal ventricular tachycardia in 4 cases, frequent premature ventricular contraction in 4 cases, ventricular pre-excitation in 1 case, left bundle branch block in 1 case, and first degree atrioventricular block in 2 cases. Echocardiography showed enlargement of the right heart, widening of the right ventricular outflow tract, and thinning and bulging of the local wall of the right ventricle with reduced pulsation. Ventricular thrombosis was found in 2 cases. Six children underwent cardiac magnetic resonance imaging, which mainly showed severe enlargement of the right heart, thin free wall of the right ventricle, decreased right heart function, enhanced right ventricular myocardium, and formation of right ventricular aneurysm. Two children underwent myocardial biopsy examination and presented with typical pathological changes of ACM. Genetic tests in five patients revealed DSG2 gene mutation in 2 cases, PKP2 gene mutation in 2 cases, and MYH6 gene mutation in 1 case. All patients received anti heart failure treatment and antiarrhythmic drugs. Two children received anticoagulant treatment due to ventricular thrombosis. Radiofrequency ablation was performed in 2 patients. Glenn procedure was performed in 4 patients, and heart transplantation was performed in 1 patient due to progressive heart failure. The follow-up period ranged from 6 months to 12 years. Two cases died of right heart failure, 6 cases had different degrees of heart failure, 1 case had intermittent chest tightness and pain, and 2 cases were stable.Conclusions:ACM is a progressive genetic cardiomyopathy characterized by decreased activity tolerance, cardiac failure and arrhythmia in pediatric patients. The diagnosis is mainly based on clinical manifestations, electrocardiogram, cardiac imaging changes, and genetic testing. Early detection, diagnosis, and personalized treatment can improve the prognosis.

Result Analysis
Print
Save
E-mail