Hypercholesterolemia is an important risk factor of cardiovascular disease,which is related to complications and mortality of cardiovascular disease.A lot of researches show that some genes polymorphism was related to hypercholesterolemia.This paper introduces the hypercholesterolemia,including LDLR(low-density lipoprotein),apo(apolipoprotein) and PCSK9(proprotein convertase subtilisin kexin type 9),etc,and summed up the relationship between the genes polymorphism and hypercholesterolemia.

Objective: To investigate the clinical features and results of treatment for right atrial appendage aneurysms complicated by atrial tachyarrhythmias in children. Methods: This retrospective study included three children with right atrial appendage aneurysm complicated by atrial tachyarrhythmias (aged 1.0 to 5.3 years, weight 10 to 17.1 kg) who were hospitalized at the Pediatric Cardiology Department (Heart Center) of the First Hospital of Tsinghua University (Beijing Huaxin Hospital) during the period from January 2016 through April 2018. The patients′ clinical features, the results of electrocardiogram (ECG) and echocardiography, the effects of therapeutic interventions (antiarrhythmics, radiofrequency ablation, and surgical resection of right atrial appendage aneurysm) and the results of pathological assessment were analyzed. Results: Three cases of right atrial appendage aneurysm were diagnosed at 36 weeks of gestational age, 1 month and 4 months after birth respectively. In two cases, ECG showed alternating episodes of atrial tachyarrhythmias including atrial tachycardia, atrial flutter, and atrial fibrillation, and echocardiography showed aneurysmal dilatation of right atrial appendage. These two cases underwent right atrial appendage aneurysm resection. In the remaining one case of atrial tachycardia, echocardiography did not visualize important lesions in the right atrium, thus the intracardiac electrophysiologic study and radiofrequency ablation were performed; and focal atrial tachycardia originating from the apex of right atrial appendage was mapped but failed to be ablated; consequently, the patient received the right atrial appendage resection, in which the right atrial appendage aneurysm was found. Preoperative multiple antiarrhythmics showed only modest or no efficacy for all the three cases. The atrial tachyarrhythmias disappeared in all the three cases after right atrial appendage aneurysm resection. Postoperative atrial tachycardias associated with new foci of impulse formation developed in two cases. These two patients reverted to normal sinus rhythm and remained in this rhythm by using antiarrhythmics. Pathological assessment showed cystic dilation of parts of atrial cavity, fibrosis of cyst wall, generalized fibrosis of atrial myocardium combined with myocardial atrophy and cystic dilation, as well as uneven myocardial thickness with generalized myocardial interstitial fibrosis. Conclusions For patients with congenital right atrial appendage aneurysm, atrial tachyarrhythmias might develop during fetal stage or early postpartum period. Reliance on echocardiography might often lead to the missed diagnosis. These patients with atrial tachyarrhythmias responded poorly to antiarrhythmics. Radiofrequency ablation might be associated with a high risk and limited efficacy. Surgical resection of right atrial appendage aneurysm showed satisfactory results and should be highly recommended.

Adolescent ; Calsequestrin ; genetics ; Child ; Child, Preschool ; China ; Diagnostic Errors ; Female ; Humans ; Male ; Tachycardia, Ventricular ; diagnosis

Objective: To investigate the feature and treatment of atrial tachycardia (AT) originated from right atrial appendage (RAA) in children. Methods: The data of 42 children with AT originated from RAA, who were admitted the First Hospital of Tsinghua University from January 2010 to September 2022 were analyzed retrospectively.The clinical characteristics, treatment and efficacy were analyzed. The children were divided into tachycardia cardiomyopathy group and normal cardiac function group. The differences in the ablation age and the heart rate during AT between two groups were compared by independent sample t-test. Results: Among 42 children, there were 20 males and 22 females. The age of onset was 2.7 (0.6, 5.1) years. Their age at radiofrequency ablation was (6.5±3.6) years, and the weight was (23.4±10.0) kg. Thirty-two children (76%) had sustained AT. The incidence of tachycardia cardiomyopathy was 43% (18/42). Compared to that of the normal cardiac function group, the ablation age and the heart rate at atrial tachycardia of the tachycardia cardiomyopathy group were higher ((8.1±3.8) vs. (5.3±3.1) years, t=-2.63, P=0.012; (173±41) vs. (150±30) beats per minute, t=-2.05, P=0.047. Thirty-eight children (90%) responded poorly to two or more antiarrhythmic drugs. The immediate success rate of radiofrequency ablation (RFCA) was 57% (24/42), and the AT recurrence rate was 17% (4/24). Twenty-two children underwent RAA resection, and their AT were all converted to sinus rhythm after the surgery. During the RAA resection, 10 cases of right atrial appendage aneurysm were found, 9/18 of which failed the RFCA. Conclusions: The AT originated from the RAA in children tend to present with sustained AT, respond poorly to antiarrhythmic drugs, and has a low success rate of RFCA as well as high recurrence rate. Resection of the RAA is a safe and effective complementary treatment.
Male ; Female ; Humans ; Child ; Atrial Appendage/surgery* ; Anti-Arrhythmia Agents/therapeutic use* ; Retrospective Studies ; Catheter Ablation ; Tachycardia/surgery* ; Treatment Outcome ; Cardiomyopathies

Objective To investigate the expression levels of interferon-inducible genes (IFIT1,IFIT4,OAS1,OASL,ISG15) in the peripheral blood mononuclear cells (PBMCs) of patients with systemic lupus erythematosus(SLE).and the relations between these genes expression levels and disease activity are explored.Methods Sybr green dye based real-time quantitative PCR method was used to detect the expression levels (indicated as-△△Ct value) of WIT1,IFIT4.OAS1,OASL and ISG15 in 76 patients with SJJE and 54 controls.Their expression levels were compared with erythroeyte sedimentation rate (ESR),serum C reactive protein (CRP),complement C3,C4.antinuclear antibody (ANA).anti-double stranded DNA antibody.The associations between the expression levels of IFIT1,IFIT4,OASI.OASL,ISG15,ESR,CRP,complement C3,C4,ANA,anti-double stranded DNA antibody and SLEDAI scores in patients with SLE were analyzed.Results ① The expression levels of WIT1,IFIT4,OAS1,OASL and ISG15 in the SLE patients were significantly higher than those of the normal controls (P＜0.01).The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 in active SLE patients were higher than those of inactive SLE patients (P＜0.05).The real time expression levels of IFIT1,IFIT4,OAS1.OASL and ISG15 showed positive correlations with each other (r＞0.5,P＜0.05) in patients with SLE.② The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 were positively correlated with the SLEDAI scores (r＞0.5,P＜0.05).③ There was no correlation between ESR,CRP,complement C3,C4,ANA and the expression levels of IFIT1,IFIT4,OAS1,OASL,ISG15,SLEDAI scores except anti-double stranded DNA antibody (r＞0.5.P＜0.05).Conclusion The expression levels of IFIT1,IFIT4,OAS1,OASL and ISG15 in patients with SLE are significantly higher than those of the normal controls,and positively associated with SLEDAI scores,so they are helpful in evaluating SLE disease activity and severity.IFIT1,IFIT4,OAS1,OASL and ISG15 genes may be the potential treating targets for SLE.

Objective: To explore the clinical features of atrial flutter (AFL) and evaluate the efficacy of radiofrequency catheter ablation (RFCA) for AFL in children. Method: Data were collected and analyzed on 50 consecutive pediatric AFL patients (male 37/female 13) who underwent electrophysiology study and RFCA from February 2009 to November 2016 in a case observational study. The average age was (6.2±3.5) years and body weight was (23.7±13.5) kg. Heart structure was normal in 26 patients. Twenty-four patients had congenital heart disease (CHD) and among them 22 patients underwent repaired surgery before. Patients were followed-up for 1 month to 7 years after RFCA. Clinical features and the outcomes of RFCA in AFL patients were analyzed. Result: The average onset age was (4.2±3.3) years. Of these patients, 84% had persistent AFL and 16% paroxysmal AFL. AFL with sick sinus syndrome (SSS) occurred in 36% patients without statistically significant difference between the groups with and without CHD (38.9%(7/18) vs. 61.1%(11/18), respectively, P=0.239 5); 49 patients underwent RFCA except one case with atrial standstill during the procedure. The total acute success rate was 96%. The follow-up recurrence rate was 8%.No complication of the procedures was observed. The cavotricuspid isthmus-dependent AFL occurred in all patients without CHD. However, in the children with CHD after the repair surgery 10 (45%) cases were with cavotricuspid isthmus-dependent AFL, 4 (8%) with atrial scars-dependent AFL, and 8(16%) with both cavotricuspid isthmus and atrial scars-dependent AFL. Conclusion RFCA was effective and safe for pediatric AFL. There is no difference on the acute success rate, the follow-up AFL recurrence rate, as well as occurrence of SSS between the groups with and without CHD. AFL patients with CHD included the cavotricuspid isthmus-dependent AFL, atrial scars-dependent AFL or both.

Objective: To investigate the clinical characteristics and prognostic factors after catheter ablation of accessory pathway (AP)-induced dilated cardiomyopathy (DCM) in children. Methods: Data were collected and analyzed on 147 consecutive pediatric patients (81males and 66 females), who hospitalized in our pediatric heart center between January 2009 and August 2018 and received catheter ablation for ventricular pre-excitation (right AP). Thirty-one children were diagnosed as AP-induced DCM and 116 children with normal cardiac function served as control. Data including clinical characteristics, electrocardiogram (ECG), echocardiography, electrophysiological examination (EPS), successful ablation and follow up were analyzed. Results: The median age at first examination was 3.07 (0.09, 5.83) years. The pre-hospital misdiagnosis rate was 87.1% (27/31). The incidence of the AP-induced DCM was 21.1% (31/147) and the rate of right anterior free wall accessory pathway (AP) was the highest (50.0%, 10/20). AP-induced DCM was more common in right free wall Aps (41.9%, 13/31) and right anterior free wall (32.3%, 10/31). 48.4% (15/31) cases had no supraventricular tachycardia (SVT). EPS showed that 29% (9/31) of the AP did not have retrograde conduction. The median follow-up time after successful catheter ablation was 8 (2, 36) months of AP-induced DCM group, LVDd was significantly decreased ((41.6±12.8)mm vs. (45.6±13.9)mm, P<0.01) and LVEF ((56.2±11.8)% vs. (40.8±12.5)%, P<0.01) was significantly increased after ablation. Cox regression analysis showed that LVEF was the predictor of the duration of cardiac function recovery (HR=1.08, 95%CI 1.01-1.15, P=0.03). Conclusions Misdiagnosis rate is high for children with AP-induced DCM, leading to the delayed treatment. All of the AP-induced DCM occurred in right APs and right anterior free wall APs is the highest. Right free wall APs and right anterior free wall are most common in AP-induced DCM. Catheter ablation is a safe and effective treatment option for these patients. The lower the LVEF, the longer the cardiac function recovery.