Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.

BACKGROUND: HL is the second most common congenital disability in China, and its high incidence brings a serious burden of medical and educational sequelae. HL genetic screening enables the identification of individuals with inherited HL and carriers in a large scale. OBJECTIVE: This study aimed to measure the detection rates of hearing loss (HL)-associated gene mutations in the Gannan population. The molecular etiology and risk factors of hereditary HL were also analyzed. METHODS: In total, 119,606 newborns from 18 districts of Gannan were enrolled in this multi-center study conducted between April 2019 and April 2021. Otoacoustic Emission (OAE) was used for primary hearing screening 3 days after birth in quiet conditions, and OAE combined with automated auditory brainstem response (AABR) was applied 29-42 days after birth for those who failed or missed the initial screening. Meanwhile, high-throughput sequencing of hotspot HL-associated mutations in GJB2, GJB3, MTRNR1, and SLC26A4 were performed. RESULTS: Among the 119,606 newborns, 7796 (6.52%) failed the hearing screening. Genetic screening revealed that 5092 neonates (4.26%) carried HL-associated mutations. The detection rate of GJB2, SLC26A4, MTRNR1 and GJB3 mutations were 2.09%, 1.51%, 0.42% and 0.24%, respectively. The most prevalent variant was GJB2 c.235delC (1.74%). The second most prevalent variant was SLC26A4 c.919-2A > G (0.93%). The population who failed the hearing screening had a lower proportion (24.64%) of SLC26A4 gene variants compared to the population who passed (37.46%). Genetic screening identified 4612 (3.86%) carriers who were normal in hearing screenings. The concurrent hearing and genetic screening identified 480 (0.40%) neonates at high risk for hereditary HL. CONCLUSIONS: The results of this study suggest that the concurrent hearing screening and high-throughput genetic screening would greatly improve the effectiveness of newborn HL programs. This integration also facilitates the management of congenital HL, and aids in the prevention of aminoglycoside antibiotics-induced HL.

Secular trends of health care resource utilization and costs between Brugada syndrome and congenital long QT syndrome: A territory-wide study.

BACKGROUND: Health care resource utilization (HCRU) and costs are important metrics of health care burden, but they have rarely been explored in the setting of cardiac ion channelopathies. HYPOTHESIS: This study tested the hypothesis that attendance-related HCRUs and costs differed between patients with Brugada syndrome (BrS) and congenital long QT syndrome (LQTS). METHODS: This was a retrospective cohort study of consecutive BrS and LQTS patients at public hospitals or clinics in Hong Kong, China. HCRUs and costs (in USD) for Accident and Emergency (A&E), inpatient, general outpatient and specialist outpatient attendances were analyzed between 2001 and 2019 at the cohort level. Comparisons were made using incidence rate ratios (IRRs [95% confidence intervals]). RESULTS: Over the 19-year period, 516 BrS (median age of initial presentation: 51 [interquartile range: 38-61] years, 92% male) and 134 LQTS (median age of initial presentation: 21 [9-44] years, 32% male) patients were included. Compared to LQTS patients, BrS patients had lower total costs (2 008 126 [2 007 622-2 008 629] vs. 2 343 864 [2 342 828-2 344 900]; IRR: 0.857 [0.855-0.858]), higher costs for A&E attendances (83 113 [83 048-83 177] vs. 70 604 [70 487-70 721]; IRR: 1.177 [1.165-1.189]) and general outpatient services (2,176 [2,166-2,187] vs. 921 [908-935]; IRR: 2.363 [2.187-2.552]), but lower costs for inpatient stay (1 391 624 [1 391 359-1 391 889] vs. 1 713 742 [1 713 166-1 714 319]; IRR: 0.812 [0.810-0.814]) and lower costs for specialist outpatient services (531 213 [531 049-531 376] vs. 558 597 [558268-558926]; IRR: 0.951 [0.947-0.9550]). CONCLUSIONS: Overall, BrS patients consume 14% less health care resources compared to LQTS patients in terms of attendance costs. BrS patients require more A&E and general outpatient services, but less inpatient and specialist outpatient services than LQTS patients.

Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results.

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and 13). NIPT has been shown to be highly sensitive and specific in previous studies, but false positives (FPs) and false negatives (FNs) occur. Although the prevalence of FN NIPT results for Down syndrome is rare, the impact on families and society is significant. CASE PRESENTATION: This article described two cases of foetuses that tested "negative" for trisomy 21 by NIPT technology using the semiconductor sequencing platform. However, the fetal karyotypes of amniotic fluid were 46,XY, + 21 der(21;21)(q10;q10) and 47,XY, + 21 karyotypes, respectively. Placental biopsies confirmed that, in the first case, the chromosome 21 placenta chimerism ratio ranged from 13 to 88% with the 46,XX, + 21,der(21;21)(q10;q10)[86]/46,XX[14] karyotype of placental chorionic cells (middle of fetal-side placental tissue). However, in the second case, of all the placental biopsies, percentage of total chimerism was less than 30%; and placental biopsies taken at the middle of maternal side and middle of fetal side, also had variable trisomy 2 mosaicism levels of 10% and 8%, respectively. Ultimately, the pregnancies were interrupted at 30 gestational age (GA) and 27GA, respectively. CONCLUSIONS: In this study, we present two cases of FN NIPT results that might have been caused by biological mechanisms, as opposed to poor quality, technical errors, or negligence. Clinical geneticists and their patients must understand that NIPT is a screening procedure.

Comparing the clinical efficacy of three surgical methods for cesarean scar pregnancy.

BACKGROUND: We aimed to compare the clinical efficacy of three surgical methods in the treatment of various types of cesarean scar pregnancy (CSP). METHODS: Herein, 314 cases of CSP were treated in the department of Obstetrics and Gynecology of the First Affiliated Hospital of Gannan Medical University between June 2017 and June 2020. The patients were divided into three groups based on the treatment received: group A (n = 146; curettage by pituitrin combined with ultrasonic monitoring and hysteroscopy-guided surgery), group B [n = 90; curettage after methotrexate (MTX) injection into the local gestational sac], and group C (n = 78; laparoscopic, transvaginal, and transabdominal cesarean scar resection). These groups were divided into three subgroups (type I, type II, and type III) according to the CSP type of the patients. RESULTS: The intraoperative blood loss, length of hospital stay, hospitalization cost, menstrual recovery time, and serum ß-HCG normalization time were lower in groups A than in groups B or C with type I, II and III CSP (P < 0.05). Operative efficiency and Successful second pregnancy rate were higher in groups A than in groups B or C with type I and II CSP (P < 0.05). But in type III CSP, the complications were more serious in group A than group C. CONCLUSIONS: Curettage by pituitrin combined with ultrasonic monitoring and hysteroscopy-guided surgery is an effective and relatively safe treatment for patients with type I and II CSP. Laparoscopic surgery is more suitable for type III CSP.

Comprehensive Pan-Cancer Analysis of Senescence With Cancer Prognosis and Immunotherapy.

Senescence is a double-edged sword in tumorigenesis and affects the immunotherapy response through the modulation of the host's immune system. However, there is currently a lack of comprehensive analysis of the senescence-related genes (SRGs) in human cancers, and the predictive role of senescence in cancer immunotherapy response has not been explored. The multi-omics approaches were performed in this article to conduct a systematic pan-cancer genomic analysis of SRGs in cancer. In addition, we calculated the generic senescence score (SS) to quantify the senescence levels in cancers and explored the correlations of SS with cancer prognosis, biological processes, and tumor microenvironment (TME). The gene signatures were deregulated in multiple cancers and indicated a context-dependent correlation with prognosis, tumor-immune evasion, and response to therapy across various tumor types. Further analysis disclosed that SS was positively associated with the infiltration levels of immune suppressive cells, including induced Tregs (iTregs), central memory Ts (Tcms), and natural Tregs (nTregs), and negatively associated with immune killer cells, including natural killers (NKs) and mucosal-associated invariant Ts (MAITs). Moreover, the SS was significantly correlated with tumor-associated macrophages (TAMs), cancer-associated fibroblasts (CAFs), immune-related genes, and immune checkpoints and had a predictive value of immunotherapy response. Thus, the expression of SRGs was involved in resistance to several anticancer drugs. Our work illustrates the characterization of senescence across various malignancies and highlights the potential of senescence as a biomarker of the response to immunotherapy.

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

INTRODUCTION: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy. The present study aims to examine the clinical characteristics, genetic basis, and arrhythmic outcomes of CPVT patients from China to elucidate the difference between CPVT patients in Asia and Western countries. METHODS: PubMed and Embase were systematically searched for case reports or series reporting on CPVT patients from China until 19 February 2022 using the keyword: "Catecholaminergic Polymorphic Ventricular Tachycardia" or "CPVT", with the location limited to: "China" or "Hong Kong" or "Macau" in Embase, with no language or publication-type restriction. Articles that did not state a definite diagnosis of CPVT and articles with duplicate cases found in larger cohorts were excluded. All the included publications in this review were critically appraised based on the Joanna Briggs Institute Critical Appraisal Checklist. Clinical characteristics, genetic findings, and the primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. RESULTS: A total of 58 unique cases from 15 studies (median presentation age: 8 (5.0-11.8) years old) were included. All patients, except one, presented at or before 19 years of age. There were 56 patients (96.6%) who were initially symptomatic. Premature ventricular complexes (PVCs) were present in 44 out of 51 patients (86.3%) and VT in 52 out of 58 patients (89.7%). Genetic tests were performed on 54 patients (93.1%) with a yield of 87%. RyR2, CASQ2, TERCL, and SCN10A mutations were found in 35 (71.4%), 12 (24.5%), 1 (0.02%) patient, and 1 patient (0.02%), respectively. There were 54 patients who were treated with beta-blockers, 8 received flecainide, 5 received amiodarone, 2 received verapamil and 2 received propafenone. Sympathectomy (n = 10), implantable cardioverter-defibrillator implantation (n = 8) and ablation (n = 1) were performed. On follow-up, 13 patients developed VT/VF. CONCLUSION: This was the first systematic review of CPVT patients from China. Most patients had symptoms on initial presentation, with syncope as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2, TERCL and SCN10A mutations.

A Frequent Observation of Wolff-Parkinson-White Syndrome and Fasciculoventricular Pathways in Patients With Danon Disease.

BACKGROUND: Danon disease is typically associated with cardiomyopathy and ventricular pre-excitation. The study aimed to characterize the clinical profile of Danon disease, analyze electrocardiographic (ECG) and electrophysiologic features, and investigate their association with Wolff-Parkinson-White (WPW) syndrome and fasciculoventricular pathways (FVPs).Methods and Results:Clinical course, family history, ECG and electrophysiological data were collected from 16 patients with Danon disease. Over 0.4-8 years of follow up, 1 female patient died suddenly, and 5 male patients died of progressive heart failure by age 13-20 years. Family history analysis revealed that 3 mothers experienced hospitalization or death for heart failure at age 28-41 years. There was 100% penetrance for ECG abnormalities in 13 patients with original ECGs. Short PR intervals and delta waves were present in 9 and 8 patients, respectively. There were significant age-associated increases in the QRS complex width (r=0.556, P=0.048) and the number of leads with notched QRS (r=0.575, P=0.04). Four patients who underwent electrophysiological studies all had FVPs, and 2 of them still had left-side atrioventricular pathways. CONCLUSIONS: Danon disease causes a malignant clinical course characterized by early death caused by heart failure in both genders and progressive ECG changes as patients age. The pre-excited ECG pattern is related to FVPs and WPW, which is suggestive of extensive cardiac involvement.

Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.

Genetic disorders are a frequent cause of hospitalization, morbidity and mortality in pediatric patients, especially in the neonatal or pediatric intensive care unit (NICU/PICU). In recent years, rapid genome-wide sequencing (exome or whole genome sequencing) has been applied in the NICU/PICU. However, mtDNA sequencing is not routinely available in rapid genetic diagnosis programs, which may fail to diagnose mtDNA mutation-associated diseases. Herein, we explored the clinical utility of rapid exome sequencing combined with mtDNA sequencing in critically ill pediatric patients with suspected genetic disorders. Rapid clinical exome sequencing (CES) was performed as a first-tier test in 40 critically ill pediatric patients (aged from 6 days to 15 years) with suspected genetic conditions. Blood samples were also collected from the parents for trio analysis. Twenty-six patients presented with neuromuscular abnormalities or other systemic abnormalities, suggestive of suspected mitochondrial diseases or the necessity for a differential diagnosis of other diseases, underwent rapid mtDNA sequencing concurrently. A diagnosis was made in 18 patients (45.0%, 18/40); three cases with de novo autosomal dominant variants, ten cases with homozygous or compound heterozygous variants, three cases with hemizygous variants inherited from mother, three cases with heterozygous variants inherited from either parent, and one case with a mtDNA mutation. The 18 patients were diagnosed with metabolic (n = 7), immunodeficiency (n = 4), cardiovascular (n = 2), neuromuscular (n = 2) disorders, and others. Genetic testing reports were generated with a median time of 5 days (range, 3-9 days). Thirteen patients that were diagnosed had an available medical treatment and resulted in a positive outcome. We propose that rapid exome sequencing combined with mitochondrial DNA sequencing should be available to patients with suspected mitochondrial diseases or undefined clinical features necessary for making a differential diagnosis of other diseases.

Catheter Ablation of Ventricular Arrhythmias Originating From the Pulmonary Sinus Cusp in Pediatric Patients: A Single-Center Retrospective Study.

Objective: There are few reports of ventricular arrhythmias (VAs) originating from the pulmonary sinus cusp (PSC) in pediatric patients. Thus, we investigated the ablation of PSC-VAs in pediatric patients. Study Design: Clinical, echocardiographic, and ablation data were reviewed in 10 consecutive symptomatic children who underwent successful ablation of VAs of PSC origin at our center between March 2014 and June 2018. Results: The 10 patients' weights ranged from 29 to 63.5 kg, and all had structurally normal hearts and VAs with left bundle branch block (LBBB) morphologies and inferior axes. The initial ablation was performed in the right ventricular outflow tract (RVOT) or the aortic sinus cusp, which failed to terminate the VAs in nine patients. The successful ablation site was in the right cusp (RC) in seven patients, the anterior cusp in two patients, and the left cusp (LC) in one patient. The earliest potential recorded at the PSC ablation site preceded the onset of the QRS complex during VAs by 29.4 ± 4.9 ms. Conclusions: VAs with a LBBB morphologies and inferior axes may originate within the PSC of children. Ablation was effective and safe for the eradication of VAs originating from the PSCs in children. Due to the particularity of ablations in pediatric patients, mapping of PSCs should be considered when ablation fails in the RVOT.

Experimental, Pathologic, and Clinical Findings of Radiofrequency Catheter Ablation of Para-Hisian Region From the Right Ventricle in Dogs and Humans.

BACKGROUND: Ablation of para-Hisian accessory pathway (AP) poses high risks of atrioventricular block. We developed a pacing technique to differentiate the near-field (NF) from far-field His activations to avoid the complication. METHODS AND RESULTS: Three-dimensional mapping of the right ventricle was performed in 15 mongrel dogs and 23 patients with para-Hisian AP. Using different pacing outputs, the NF- and far-field His activation was identified on the ventricular aspect. Radiofrequency application was delivered at the NF His site in 8 (group 1) and the far-field His site in 7 dogs (group 2), followed by pathologic examination after 14 days. NF His activation was captured with 5 mA/1 ms in 10 and 10 mA/1 ms in 5 dogs. In group 1, radiofrequency delivery resulted in complete atrioventricular block in 3, right bundle branch block with HV (His-to-ventricular) interval prolongation in 1, and only right bundle branch block in 2 dogs, whereas no changes occurred in group 2. Pathologic examination in group-1 dogs showed complete or partial necrosis of the His bundle in 4 and complete necrosis of the right bundle branch in 5 dogs. In group 2, partial necrosis in the right bundle branch was found only in 1 dog. Using this pacing technique, the APs were 5.7±1.2 mm away from the His bundle located superiorly in 20 or inferiorly in 3 patients. All APs were successfully eliminated with 1 to 3 radiofrequency applications. No complications and recurrence occurred during a follow-up of 11.8±1.4 months. CONCLUSIONS: Differentiating the NF His from far-field His activations led to a high ablation success without atrioventricular block in para-Hisian AP patients.

Changes in the Prevalence of Rheumatic Diseases in Shantou, China, in the Past Three Decades: A COPCORD Study.

This study aimed to clarify changes in the prevalence of rheumatic diseases in Shantou, China, in the past 3 decades and validate whether stair-climbing is a risk factor for knee pain and knee osteoarthritis (KOA). The World Health Organization-International League Against Rheumatism Community Oriented Program for Control of Rheumatic Diseases (COPCORD) protocol was implemented. In all, 2337 adults living in buildings without elevators and 1719 adults living in buildings with elevators were surveyed. The prevalence of rheumatic pain at any site and in the knee was 15.7% and 10.2%, respectively; both types of pain had a significantly higher incidence in residents of buildings without elevators than was reported by people who lived in buildings with elevators (14.9% vs. 10.6% and 11.32% vs. 8.82%, respectively) (both P < 0.0001). The prevalence of rheumatic pain in the neck, lumbar spine, shoulder, elbow, and foot was 5.6%, 4.5%, 3.1%, 1.4%, and 1.8%, respectively; these findings were similar to the data from the 1987 rural survey, but were somewhat lower than data reported in the urban and suburban surveys of the 1990s, with the exception of neck and lumbar pain. The prevalence of KOA, gout, and fibromyalgia was 7.10%, 1.08%, and 0.07%, respectively, and their prevalence increased significantly compared with those in previous studies from the 20th century. There were no significant differences in the prevalence of rheumatoid arthritis (RA) (0.35%) or ankylosing spondylitis (AS) (0.31%) compared to that reported in prior surveys. The prevalence of KOA was higher in for residents of buildings without elevators than that in those who had access to elevators (16-64 years, 5.89% vs. 3.95%, P = 0.004; 16->85 years, 7.64% vs. 6.26%, P = 0.162). The prevalence of RA and AS remained stable, whereas that of KOA, gout, and fibromyalgia has increased significantly in Shantou, China, during the past 3 decades. Stair-climbing might be an important risk factor for knee pain and KOA.

Expression of circulating microRNA-1 and microRNA-133 in pediatric patients with tachycardia.

Paroxysmal or persistent tachycardia in pediatric patients is a common disease. Certain circulating microRNAs (miRNAs) have been associated with arrhythmia. The present study investigated miRNAs in the plasma of pediatric patients with tachycardia. Forty pediatric subjects were included retrospectively: 24 with recurrent sustained tachycardia [seven cases of ventricular tachycardia (VT) and 17 cases of supraventricular tachycardia (SVT)] and 16 healthy controls. Circulating miR­1 and miR­133 in the plasma were detected by fluorescent quantitative polymerase chain reaction. miR­1 levels were significantly decreased in the arrhythmia group compared with those in the controls (P=0.004) whilst miR­133 expression levels were not significantly different between the two groups (P=0.456). Both miR­1 and miR­133 levels showed significant differences between the SVT and VT groups (P=0.004 and P=0.046, respectively), and a significant decrease in miR­1 levels was observed in the SVT group as compared with the controls (P<0.001). No significant difference was observed in the expression levels of miR­133. By contrast, miR­133 levels were significantly increased in the VT group compared with those in the controls (P=0.024), whereas no statistically significant difference was observed in the expression levels of miR­1. Receiver operating characteristic curves showed that 1/miR­1 was significant for the evaluation of tachycardia. Additionally, miR­1 produced enhanced sensitivity and specificity for the evaluation of SVT compared with miR­133, whereas miR­133 was a better marker to assess VT. This study demonstrated that miRNAs may be appropriate markers for pediatric tachycardia; miR­1 levels were decreased in the arrhythmia group compared with those in the healthy controls. Furthermore, patients with SVT had lower miR­1 expression levels while those with VT had higher miR­133 expression levels.

[Successful transcatheter ablation of fascicular potential in pediatric patients with left posterior fascicular tachycardia].

OBJECTIVE: To simplify the methods of transcatheter mapping and ablation in the pediatric patients with left posterior fascicular tachycardia. METHOD: While in sinus rhythm, the fascicular potential can be mapped at the posterior septal region (1 - 2 cm below inferior margin of orifice of coronary sinus vein), which display a biphasic wave before ventricular wave, and exist equipotential lines between them. When the fascicular potential occurs 20 ms later than the bundle of His' potential, radiofrequency was applied. Before applying radiofrequency, catheter position must be observed using double angle viewing (LAO 45°RAO 30°), and it should be made sure that the catheter is not at His' bundle. If the electrocardiogram displays left posterior fascicular block, the correct region is identified and ablation can continue for 60 s. Electrocardiogram monitoring should continue for 24 - 48 hours after operation, and notice abnormal repolarization after termination of ventricular tachycardia. Aspirin [2 - 3 mg/(kg·d)] was used for 3 months, and antiarrhythmic drug was discontinued. Surface electrocardiogram, chest X-ray and ultrasound cardiography were rechecked 1 d after operation. Follow-up was made at 1 month and 3 months post-discharge. Recheck was made half-yearly or follow-up was done by phone from then on. RESULT: Fifteen pediatric patients were ablated successfully, and their electrocardiograms all displayed left posterior fascicular block after ablation. None of the patients had recurrences during the 3 to 12 months follow-up period. In one case, the electrocardiogram did not change after applying radiofrequency ablation and the ventricular tachycardia remained; however, on second attempt after remapping, the electrocardiogram did change. The radiofrequency lasted for 90 seconds and ablation was successful. This case had no recurrences at 6 months follow-up. CONCLUSION: Transcatheter ablation of the fascicular potential in pediatric patients with left posterior fascicular tachycardia can simplify mapping, reduce operative difficulty and produce a distinct endpoint for ablation.

[Radiofrequency catheter ablation of arrhythmias in pediatric patients guided by three-dimensional mapping system].

OBJECTIVE: To explore safety, indications and advantages of mapping and ablation of arrhythmia in children guided by Carto and Ensite system. METHODS: Guided by Carto system, radiofrequency catheter ablation (RFCA) was performed on 8 pediatric patients with tachycardia whose mean age was (6.2 + or - 1.7) years, mean weight was (18.0 + or - 2.0) kg. Guided by Ensite system, RFCA was performed on 10 pediatric patients with arrhythmia, 8 of them were ablated guided by Ensite Array system: 6 cases with premature ventricular contractions (PVCs), 2 cases with right atrial tachycardia, their mean age was (11.3 + or - 1.2) years, and mean weight (40.0 + or - 5.0) kg. The other two cases with W-P-W syndrome were ablated guided by Ensite Navx system. RESULT: Guided by Carto system, 8 cases were successfully mapped and ablated: 6 cases had incision atrial tachycardia, 1 case had left atrial tachycardia and 1 case had right atrial tachycardia. In 1 case with incision atrial tachycardia the condition recurred after 3 months, and was ablated again successfully. Guided by Ensite Array system, 6 cases with PVCs (in 2 originating from the right ventricular inflow tract and in 4 originating from the right ventricular outflow tract) and 2 cases with right atrial tachycardia were successfully mapped and ablated, PVCs of the first 6 cases were reduced from (32 333 + or - 4509) 24 h to (0-4)/24 h after ablation. In 1 case with automatic atrial tachycardia, mapping could not be done by Ensite Array system, because P wave could not be identified from T wave. Single bolus of adenosine 20 mg was given within 30 s to let ventricles stop for 2 s (cardio-ventricular pacing standby) until T wave vanished, mapping and ablation were operated again successfully, but another atrial tachycardia occurred 1 day later. Guided by Ensite Navx system, 2 cases with W-P-W syndrome were successfully ablated, operation under X-rays lasted for 8 and 10 min. In none of the 9 patients the disease recurred after follow-up for 6 months. CONCLUSION: Carto system is suitable for mapping and ablation in pediatric patients with continuous tachycardia, especially with incision atrial tachycardia; Ensite Array system fits children older than 10 years with right heart discontinuous arrhythmia; and Ensite NavX system can set up model and display endocardial anatomic structure quickly. Compared with two-dimensional mapping system, the three-dimensional mapping system (Carto and Ensite) can display the origin of arrhythmia and activation sequence clearly, decrease difficulty of operation efficiently and diminish operation time under X-ray.

Acute myocardial infarction and ascending aortic aneurysm in a child with Behçet's disease.

A 12-year-old boy with a history of recurrent aphthous ulcerations and cutaneous erythema nodosum suddenly experienced chest pain. Together, the symptoms and a positive skin pathergy test established a diagnosis of Behçet's disease. An acute extensive anterior myocardial infarction was based on electrocardiography and a cardiac computed tomography confirmed an ascending aortic aneurysm. Coronary angiography showed mural irregularity and a 50% constriction in the first diagonal artery. Following treatment with urokinase, corticosteroids, colchicine, and aspirin, most symptoms gradually improved. There were no complications noted at the one-year follow-up evaluation. Myocardial infarction is a rare event in children with Behçet's disease; treatment with corticosteroids and colchicine can result in regression of concomitant aneurysm.

[Applying interventional treatment for the atrial septal defect in 165 children under five years of age].

OBJECTIVE: To study the clinical technology of transcatheter closure of secundum atrial septal defects (ASD) with Amplatzer device in younger and lower body weight children. METHODS: The transcatheter closure of ASD using Amplatzer septal occluder (ASO) was performed in 165 children under 5 years of age (75 boys and 90 girls) with secundum ASD from Aug 1998 to May 2004. The age of the cases ranged from 2 to 5 (mean 3.7 +/- 1.1) years. The body weight ranged from 9 to 18 (mean 12.6 +/- 2.3) kg. The ratio of pulmonary circulation quantity to the systemic circulation quantity (Qp/Qs) was 3.2 +/- 1.9. All the patients underwent clinical examination, X-ray, electrocardiography (ECG) and echocardiography (Echo) for diagnosis of secundum ASD. The transthoracic echocardiography (TTE) was used to detect and measure the defect of the patients and even trans-esophageal echocardiography (TEE) had to be used when it was necessary. With Echo and X-ray guidance, the measuring balloon was used in the body and outside the body to determine the balloon-stretch diameters of ASD, and proper occluders were selected accordingly for the patients for interventional treatment of ASD. RESULTS: The devices were implanted successfully in 163 (98.8%) cases. One failure occurred in a case in whom the device moved into the left atrium after release, and the other failure was that the position of the device was uncertain because of temporary unavailability of a special transducer for TEE. Surgical operations were performed for these two cases. The stretch diameter of ASD was from (8 - 30) mm, (mean 18.3 +/- 5.1) mm. The size of device was selected according to the stretch diameter of ASD. The diameter of the occluders selected was from (8 - 30), (mean 18.6 +/- 5) mm in this series. The occlusion procedure was monitored by fluoroscopy and TTE and in 5 cases (3%) by TEE. The diameter of right ventricle was improved within 2 days after occlusion from (mean 16.4 +/- 4.9) mm to (mean 12.6 +/- 3.8) mm, (p < 0.01). One hundred and forty seven cases belonged to the simple secundum ASD(89%). Thirteen cases who were complicated with other cardiac deformity were treated successfully with different interventional procedure. Six cases had multiple openings and three of these cases had tumour-like changes of the atrial septum which were closed completely just by one occluder. In only one case small quantity of residual shunt remains. No other severe complication was found in this group. About 100 cases (60%) had large ASD, so the procedure was more difficult in those cases. CONCLUSION: The clinical effectiveness of treatment of ASD in children under 5 years of age with Amplatzer occluders was satisfactory and therefore this therapeutic procedure is feasible for this age group of patients. Nevertheless, we do not recommend to use the technique for infants and children under 2 years of age. Strict selection of indications and proper size of occluder and good cardiologic and surgical settings are among the basic factors for successful interventional occlusion of ASD in young children.

[Radiofrequency catheter ablation of septum originated tachycardia in children].

OBJECTIVE: The study was undertaken to analyze retrospectively the results of radiofrequency catheter ablation (RFCA) on septum originated tachycardia in children with arrhythmia. The 98 children were all treated with RFCA on septum originated tachycardia in which the ablation sites were located near the bundle of His. METHODS: Fifty female and forty-eight male cases were included in this analysis. They were at the age of 8.1 +/- 2.3 years and their body weight was (28 +/- 9) kg. The arrhythmia they suffered from consisted of atrioventricular nodal reentry tachycardia (AVNRT) (n = 62), atrioventricular reentry tachycardia (AVRT) on septum (n = 25), atria Itachycardia on Koch areas (n = 3) and left ventricular tachycardia (ILVT) on the septum (n = 8). Swartz SRO long sheath was used on the right site ablation. Titration of capacity and degreed time of increase were used in the ablation. RESULTS: Radiofrequency ablation was successful in all cases. Eleven cases had relapse after the procedure. They accepted RFCA again and then the treatment succeeded. One case of AVRT at the posterior septum experienced complete atrioventricular block (AVB) during ablation. Two weeks later this case was implanted with permanent pacemaker. CONCLUSIONS: The septal site is narrow and small in children. Atrioventricular node is tender. If the above facts were neglected, it was very likely to cause AVB, especially in children accepting the procedures of electrophysiologic study an RFCA on the septal site. Attention should be paid to the followings during such procedures: ablation in the sinus rhythm; ablation following the principle, titration of capacity and degreed time of increase; ablation at the right site long sheath; thermo-ablation catheter application and ablation on the two sides of septum in the posterior septum ablation procedure. The end-point of ablation in children should be the elimination of tachycardia and the delta wave, disassociation of VA or passing through bundle of His at pacing in the ventricle, disappearance of jumping conduction or no echo or one echo but without AVNRT after infusion of isoprenaline and stimulation procedure. Avoiding bundle of His injury is important during the procedure of ablation in children.

[Ablation of postoperative "incisional" reentrant atrial tachycardia and flutter in children using the CARTO system].

OBJECTIVE: In children with congenital heart diseases who have undergone surgical interventions, postoperative arrhythmias frequently complicate the clinical course. "Incisional" atrial tachycardia or flutter is one of the most common forms of postoperative arrhythmias in these patients and can lead to significant morbidity and even mortality. The aim of this study was to investigate how to use antiarrhythmic drugs and the CARTO system to treat these cases. METHODS: There were 12 patients with "incisional" atrial tachycardia or flutter complicating surgery for congenital heart diseases in this study (3 patients with correction of tetrology of Fallot, 3 with atrial septal defect repair, 2 with ventricular septal defect repair, 1 with switch, 1 with repair of Ebstein's anomaly, 1 with total anomalous pulmonary venous drainage, and 1 with atrial septal closure with the Amplatzer septal occlusion). Patients whose body weight was less than 10 kg or those who did not wish to accept ablation were treated with antiarrhythmic drugs, including digitoxin, propranolol, metoprolol and cordarone. CARTO system was used to map 6 patients whose body weight was more than 10 kg and who agreed with accepting ablation for atrial tachycardia and flutter. Radio-frequency ablation was performed in these 6 cases including two cases of "incisional" atrial tachycardia and 4 of atrial flutter. RESULTS: (1) The antiarrhythmic drug was successful in 6 patients with "incisional" atrial tachycardia. (2) Six patients including 2 children with "incisional" atrial tachycardia and 4 children with atrial flutter were successfully ablated. But one case of "incisional" atrial tachycardia relapsed after 3 months of ablation. This case, however, was successfully ablated again later. No further relapse was observed during the 2 - 24 months of follow-up. CONCLUSION: Ablation of "incisional" atrial tachycardia and flutter is the first choice to treat the patients whose body weight is more than 10 kg and those who agree with accepting ablation by CARTO system. Drug therapy of "incisional" atrial tachycardia and flutter is palliative and it is the only selection to treat the patients whose body weight is less than 10 kg or those who do not wish to accept ablation procedure.