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OBJECTIVE@#To explore the genetic basis for a patient with Dilated cardiomyopathy.@*METHODS@#A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.
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Humanos , Cardiomiopatia Dilatada/genética , Testes Genéticos , Aconselhamento Genético , Biologia Computacional , Mutação da Fase de Leitura , Mutação , FilaminasRESUMO
Objective:To investigate the predictive value of plasma high-sensitivity C-reactive protein/albumin ratio (HCRP/ALB) for the death in patients with acute coronary syndrome (ACS).Methods:The clinical data of patients with ACS [including unstable angina (UA), non-ST segment elevation myocardial infarction (NSTEMI), ST segment elevation myocardial infarction (STEMI)] admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2018 to August 2020 were retrospectively analyzed. The plasma HCRP and ALB were recorded and the HCRP/ALB ratio was calculated. Patients were divided into death group and survival group according to the hospital outcome. The differences of baseline data and biochemical indexes between the two groups were compared. Receiver operating characteristic curve (ROC curve) was used to analyze the predictive value of each variable to death. Logistic regression was used to analyze the risk factors of death.Results:Among the 1 722 ACS patients, 74 died in hospital. Comparison of baseline data between death group and survival group showed that the other baseline data were statistically different except for the rate of hyperlipidemia. Among them, patients in death group had higher heart rate (HR), HCRP, B-type natriuretic peptide (BNP), HCRP/ALB [HR (bpm): 89±19 vs. 73±15, HCRP (mg/L): 23.24 (9.79, 33.69) vs. 3.57 (1.03, 14.26), BNP (ng/L): 424.0 (164.3, 1 596.1) vs. 79.0 (31.0, 211.4), HCRP/ALB: 0.700 (0.289, 1.017) vs. 0.089 (0.026, 0.368), all P < 0.01], while ALB was lower (g/L: 35.37±5.16 vs. 39.97±6.43, P < 0.01). ROC curve analysis showed that area under ROC curve and 95% confidence interval [AUC (95% CI)] of BNP, HCRP and HCRP/ALB for predicting death were 0.781 (0.717-0.845), 0.790 (0.724-0.856) and 0.803 (0.738-0.869), respectively. The Youden index of HCRP/ALB was 0.559, and the corresponding HCRP/ALB was 0.246. The patients were divided into low HCRP/ALB group (HCRP/ALB≤ 0.246, 1 163 cases) and high HCRP/ALB group (HCRP/ALB > 0.246, 559 cases). Except for gender, previous smoking, hypertension and diabetes rates, the other baseline data were statistically different between the two groups. Patients in the high HCRP/ALB group had a higher mortality (10.4% vs. 1.4%, P < 0.01), higher rates of implanted intra-aortic balloon pump (IABP, 12.7% vs. 2.7%, P < 0.01), higher BNP, HCRP, HCRP/ALB [BNP (ng/L): 253.0 (82.8, 749.0) vs. 60.0 (26.0, 145.2), HCRP (mg/L): 25.42±17.47 vs. 2.62±2.43, HCRP/ALB: 0.700±0.435 vs. 0.066±0.062, all P < 0.01], while lower ALB (g/L: 36.89±4.30 vs. 41.17±6.83, P < 0.01). Logistic regression analysis showed that higher HR [odds ratio ( OR) = 1.037, 95% CI was 1.020-1.055, P = 0.000] and higher HCRP/ALB ( OR = 3.835, 95% CI was 1.612-9.125, P = 0.002) were independent risk factors for the death in ACS patients, while higher ALB could reduce the mortality in ACS patients ( OR = 0.884, 95% CI was 0.818-0.957, P = 0.002). Conclusions:The higher the HCRP/ALB, the higher the risk of death in patients with ACS. When HCRP/ALB is greater than 0.246, the patient has a higher mortality. Therefore, HCRP/ALB in patients with ACS can be used as an effective predictor for death risk.
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Objective:To evaluate changes in urinary neutrophil gelatinase-associated lipocalin(NGAL)levels in elderly coronary artery disease(CAD)patients after percutaneous coronary intervention(PCI), and to explore the role of NGAL and its value in the early diagnosis of contrast-induced nephropathy(CIN).Methods:This was a retrospective case-control study.A total of 68 patients undergone PCI were consecutively enrolled between October 2012 and October 2013.Serum creatinine(SCr)was measured before and at 24, 48 and 72h after PCI.Urinary NGAL was measured before and at 2, 12 and 24 h after PCI.The value of urinary NGAL for early diagnosis of CIN was analyzed.Results:The overall incidence of CIN was 8.82%.Urinary NGAL levels at 2 h, 12 h and 24 h after PCI were higher than pre-surgery levels(all P<0.05). Compared with the non-CIN group, urinary NGAL levels were increased in the CIN group at 2 h, 12 h and 24 h after PCI(all P<0.05). Pearson correlation analysis showed that urinary NGAL levels at 2 h, 12 h and 24 h after PCI were positively correlated with peak SCr within 72 h after PCI( r=0.625、0.493, and 0.226, all P<0.05), and were negatively correlated with peak eGFR within 72 h after PCI( r=-0.732、-0.603 and -0.449, all P<0.05). The area under the receiver operating characteristic(ROC)curve(AUC)showed that urinary NGAL was 0.740(95% CI: 0.481-0.998, P=0.029)at 2 h post-operation, and the sensitivity and specificity for the diagnosis of CIN were 62.5% and 73.3%, respectively, when the cut-off level was 17.52 ng/ml.The AUC of urinary NGAL was 0.948(95% CI: 0.895-1.001, P<0.001)at 12 h post-operation, and the sensitivity and specificity for the diagnosis of CIN were 87.7% and 88.3%, respectively, when the cut-off level was 44.30 ng/ml.The AUC of urinary NGAL was 0.931(95% CI: 0.869-0.994, P<0.001)at 24 h post-operation, and the sensitivity and specificity for the diagnosis of CIN were 86.2% and 73.3%, respectively, when the cut-off level was 48.65 ng/ml. Conclusions:Urinary NGAL can reflect acute kidney injury within 24 h of administration of contrast agents in coronary interventional therapy, and has a certain predictive value in the early diagnosis of CIN.
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Objective To investigate the effects of percutaneous coronary intervention(PCI)on life quality and cardiac events in elderly patients with stable angina owing to chronic coronary total occlusion(CTO).Methods Patients with stable angina due to CTO hospitalized in Beijing Anzhen Hospital from January 2015 to January 2018 were consecutively recruited in this prospective study,and were randomly divided into the combined treatment group(n=44)and the control group (n=43).Patients in the combined treatment group were treated with PCI and optimal medical therapy,and those in the control group were treated with optimal medical therapy alone.Patients followed up for 6 months after treatment.Cardiac function,life quality(Seattle angina questionnaire,SAQ)and adverse cardiovascular events were compared before and after treatment.Results A total of 87 patients were involved,with a mean age of (69.5 ± 7.2) years.Basic characteristics,including age,sex ratio,previous history,left ventricular ejection fraction,coronary artery lesions and SAQ scores,were similar between the groups(P＞0.05).After a 6 month post treatment follow up,SAQ scores improved in all patients,compared with those before treatment(P＜0.05).Moreover,patients in the combined treatment group had higher SAQ scores on physical limitation(86.3 ± 11.6 vs.76.3 ± 21.3),angina stability(67.3 ±24.5 vs.57.3±21.2)and angina frequency(93.3±4.3 vs.86.4±8.3)than those in the control group (P ＜0.05).There was no significant difference in major adverse cardiovascular event rate between the groups[18.2％(8 cases) vs.16.3％(7 cases),X2 =0.055,P＞0.05].Conclusions Combined with optimal medical therapy,PCI can improve the life quality in elderly patients with stable angina due to CTO,but has no significant influence on the short-term major adverse cardiovascular event rate.
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Objective To evaluate the efficacy of Sacubitril/Valsartan in the treatment of chronic heart failure in elderly patients with dilated cardiomyopathy.Methods A total of 126 elderly patients with dilated cardiomyopathy induced chronic heart failure who were treated in Beijing Anzhen Hospital from January 2017 to December 2017 were enrolled and randomly divided into the experimental group(n=62)and the control group(n=64).All patients were given a standard heart failure treatment,and the experimental group underwent sacubitril/valsartan(100 mg Bid)and the control group received benazepril (10 mg Qd)additionally for 12 months.Left ventricular ejection fraction(LVEF),N-terminal pro-brain natriuretic peptide(NT-proBNP),six-minute walk test(6MWT) and major adverse cardiovascular events(mortality and readmission for heart failure)were compared between the two groups.Results Of 126 elderly patients,73 patients(57.9％)were male,and 53were female,with a mean ± SD age of (67.2 ± 5.8) years.Basic characteristics,including age,gender,clinical history of hypertension and diabetes,LVEF,NT-proBNP and 6MWT,showed no significant difference between two groups (P ＜ 0.05).After 12 months of treatment,symptomatic hypotension occurred in one cases in each group.In the control group,NT-proBNP level was decreased after treatment as compared with before treatment[(983.3± 326.1) ng/L vs.(1 779.1 ± 478.1) ng/L,P ＜0.05],and no significant difference was found in LVEF and 6MWT at post-treatment versus pretreatment(P ＞ 0.05).In the experimental group,LVEF,NT-proBNP level and 6MWT were significantly improved in post-treatment versus pre-treatment (P ＞ 0.05).And LVEF,NT-proBNP level and 6MWT were significantly better in the experimental group than in the control group[(38.5 ±3.1)％ vs.(36.9±3.0)％,(744.5±246.7) ng/L vs.(983.3±326.1) ng/L,(323.4±60.5) m vs.(283.5±45.9)m,P＜0.05].The readmission rate for heart failure was lower in the experimental group than in the control group(26.6％ or 19 cases vs.46.8％ or 30 cases,P＜0.05),while no significant difference was found in mortality between the two groups (P ＞ 0.05).Conclusions Compared with benazepril,sacubitril/valsartan can improve the left ventricular function and exercise tolerance,and reduce the readmission rate due to chronic heart failure in patients with dilated cardiomyopathy.However,more studies are needed to assess the effects of sacubitril/valsartanthe on the prognosis of advanced elderly patients(＞88 years old)who have a preserved LVEF and a chronic end-stage heart failure(NYHA Ⅳ),and start the drug administration at different time points(before or after discharge).
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Objective To observe the risk factors of in-hospital mortality in patients with acute myocardial infarction complicated with cardiogenic shock after primary percutaneous coronary intervention (PCI).Methods Totally 111 cases of acute myocardial infarction complicated with cardiogenic shock received acute PCI from 2009 to 2015 in Beijing Anzhen Hospital were enrolled.The cases were divided into the in-hospital death group (31 cases) and the in-hospital survival group (80 cases).The general information,clinical indicators,range of myocardial infarction,coronary lesions and management,complications,drug treatment and equipment assistance of the two groups were compared,and logistic regression analysis was used to analyze the risk factors of in-hospital mortality.Results The proportions of age ≥ 75 years,hyperlipidemia,serum creatinine ＞ 110 μmol/L,LVEF ＜ 40％,anterior myocardial infarction,three-vessel lesions of coronary artery,post-PCI TIMI flow grade ＜3,acute liver injury and acute kidney injury in the in-hospital death group were significantly higher than those in the in-hospital survival group (P ＜ 0.05).The proportion of IABP used in the in-hospital death group was significantly higher than that in the in-hospital survival group (P ＜ 0.05).There were no significant differences in the distribution of culprit lesion and the treatment of stenoses in nonculprit arteries between the two groups (P ＞ 0.05).Multivariate logistic regression analysis showed that age ≥ 75 years,threevessel coronary lesions,post-PCI TIMI flow grade ＜3 and acute renal injury were independent risk factors for hospital mortality (P ＜ 0.05).Conclusions Age ≥ 75 years,three-vessel lesions of coronary artery,post-PCI TIMI flow grade ＜3 and acute kidney injury were independent risk factors of in-hospital death in patients with acute myocardial infarction complicated with cardiogenic shock after primary PCI.
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Objective To analyze the risk factors of adverse cardiac events in adults with acute myocarditis during hospitalization and provide reference for clinical diagnosis and treatment.Methods A restrospective study was conducted in 80 patients (54 males and 26 females) with acute myocarditis over 18 years old admitted to our hospital between January 2007 and December 2016.Major adverse cardiac events (MACE) were defined as death,cardiac arrest,cardiogenic shock and ventricular fibrillation.According to whether MACE occurred during hospitalization,patients were divided into two groups:the MACE group and the non-MACE group.The differences between the two groups were compared,and the risk factors were analyzed by logistic regression.Results There were 12 patients in the MACE group and 68 patients in the non-MACE group.The age of patients in the two groups was similar.Compared with the non-MACE group,the proportion of female patient in the MACE group was higher (66.7％ vs 26.5％,P=0.015),and the systolic pressure (mmHg) was lower at admission (89.75±17.63 vs 112.49±16.35,P＜0.01),and the heart rate (beats/min) was faster (106.42±24.39 vs 82.66±20.92,P=0.001);ALT and creatinine levels in the MACE group were higher (P＜0.01),while the levels of TnI,CK-MB,CK and LDH were significantly higher (P＜0.05).The LVEF value of the MACE group was significantly lower at admission (45％ vs 60％,P=0.022),and the proportion of LVEF ＜ 50％ was also higher (58.3％ vs 19.1％,P=0.008) The proportion of prolonged QRS wave (＞120 ms) was significantly higher in the MACE group (75％ vs 17.6％,P＜0.01).In the MACE group,the proportion of diuretics and vasoactive drugs (dopamine,norepinephrine,and adrenaline) was higher (66.7％ vs 25％,91.7％ vs 4.4％,66.7％ vs 0,75％ vs 0％,all P＜0.01);the proportion of glucocorticoids and immunoglobulin was higher (33.3％ vs 8.8％,P=0.038;33.3％ vs 4.4％,P=0.008),and the proportion of ventilator,CRRT,ECMO and IABP were also higher (50％vs 1.5％,33.3％ vs 0,25％ vs 0％,25％ vs 0％,all P＜0.01).Logistic regression analysis showed that the OR value of MACE in female patients during hospitalization was 5.56 (95％CI:1.49-20.71,P=0.011).The OR value of MACE in patients with reduced LVEF at admission was 5.92 (95％CI:1.62-21.67,P=0.007).The OR value of MACE in patients with prolonged QRS wave was 14.00 (95％CI:3.29-59.55,P＜0.01).Conclusions Female patients,LVEF＜50％ at admission,and prolonged QRS wave (QRS＞120 ms) are independent risk factors for MACE in adult patients with acute myocarditis during hospitalization.
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Objective To evaluate the predictive value of IABP SHOCK Ⅱ risk score in in-hospital mortality of patients with ST segment elevation myocardial infarction complicated with cardiogenic shock (CS). Methods From August 2011 to August 2013, the clinical data of 89 patients with cardiogenic shock after STEMI treated with primary PCI and then supported by using IABP were retrospectively analyzed. The IABP SHOCK Ⅱ risk score were calculated from the data at admission and primary PCI. Comparisons of general information, medication and intervention, pre/post IABP vital life signs and in-hospital death were carried out among patients with different risk stratifications. Results The area under ROC curve of risk stratification was 0.723. The patients were categorized into low risk group (score 0-2, n=71) and intermediate-high risk group (score 3-9, n=18).The patients in intermediate-high risk group were with advanced age, high rate of diabetes mellitus, history of stroke, renal insufficiency, higher serum lactate and glucose at admission compared with low risk group. And more patients in intermediate-high risk group had impaired post-PCI coronary flow (TIMI flow grade<3). Conclusions The IABP SHOCK Ⅱ risk score is a simple and useful risk score for predicting in-hospital mortality of STEMIpatients complicated with CS. Though the patietns are treated with primary PCI and then supported by IABP, the in-hospital mortality of patients with IABP SHOCK Ⅱ risk score ≥ 3 increases significantly.
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Objective ST segment elevation in adult patients with acute myocarditis is rare in adult.The purpose of this study was to report the outcome of ST segment elevation in adult patients with acute myocarditis in our hospital,in order to provide reference for clinical diagnosis and treatment.Methods A retrospective analysis of Beijing Anzhen Hospital during January 2002 to December 2015 for the diagnosis of acute myocarditis were 105 cases,divided into two groups,one group of ST elevation (ST elevation group) total 57 cases,another group of non ST elevation (non ST elevation group) total 48 cases.The clinical features,laboratory examination,treatment and prognosis were compared between the two groups.The composite primary endpoint of major cardiovascular events (MACE) during hospitalization included:mortality,cardiac shock and ventricular fibrillation.Results The average onset age of patients with ST segment elevation group and non ST segment elevation group were similar [(27.7 ± 10.1) years vs.(28.7 ± 10.0) years,P =0.603].There was a significant difference between the two group in patients of heart rate [(89 ± 22) beats/min vs.(80 ± 23) beats/min,P =0.028],systolic blood pressure on admission [(105 ± 17) mmHg vs.(115 ± 17) mmHg,P =0.003],diastolic blood pressure on admission [(66 ± 11) mmHg vs.(74 ± 11) mmHg,P =0.000],and total number of acute fulminant myocarditis [20 (35.1％) vs.7 (14.6％),P =0.024)].ST segment elevation acute myocarditis patients were significantly more at risk for MACE than non ST segment elevation acute myocarditis patients during hospitalization (P =0.04).Conclusion ST segment elevation acute myocarditis has acute onset and rapid progression.The incidence of MACE during hospitalization was significantly high.Mechanical support can be ve,ry favourable.ST segment elevation acute myocarditis is associated with excellent short-term prognosis.
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Objective To evaluate the value of adjusted electro-mechanical activation time ratio (EMAT％) in predicting the major adverse events occurred in hospitalized patients with cardiovascular diseases.Methods A cohort of 453 patients aged ＞ 18 years with cardiovascular diseases were consecutively enrolled from January 1st 2016 to August 1st 2016.The data of EMAT％ were documented three times in the first 24 hours after admission,and at the same time,B type natriuretic peptide,left ventricle ejection fraction and troponin I were recorded.The exclusion criteria were valvular heart diseases,congenital heart diseases,the pregnant and perinatal women,and the patients with untreated cancer.The major adverse events were defined to be cardiogenic death,onset of acute heart failure,cardiogenic shock,myocardial infarction,ventricular tachycardia/fibrillation,and heart arrest.There were 25 patients suffering from major adverse events and 428 patients without any form of adverse events.Multivariate logistic regression analysis was used to determine the association between adjusted electro-mechanical activation time ratio (EMAT％) and major adverse events.The predictive value was established by receiver operating characteristic curve.Results From this trial,elevated EMAT％ was proved to be the independent riskfactor (EMAT％ OR =1.444,95％ CI:1.201-1.736,P ＜ O.05) for the occurrence of major adverse events in patients with cardiovascular diseases admitted in hospital,and BNP ＞ 200 pg/mL was independent risk factor too.The area under the curve of EMAT％ was 0.887 (95％ CI:0.812-0.962,P ＜ 0.05),Youden index 0.653,the sensibility of predicting the end point of major adverse events was 0.840 when the optimal cutoff point was set at EMAT％ ＞ 11.5 ％ and the specificity was 0.813.Conclusion The elevated EMAT％ is found to be the independent risk factor for predicting the onset of major adverse events in patients with cardiovascular diseases admitted in hospital,and it can be used to identify the critical patients.
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Objective To establish a real-time fluorescent quantitative polymerase chain reaction (RT-qPCR) for detection of human Herpesvirus-8 (HHV-8) viral load. Methods pMD19-T recombinant vectors inserted with an open reading frame (ORF) 26 of HHV-8 or β-actin gene were constructed respectively. A sensitive RT-qPCR method was established and optimized. The effectivity of the method was evaluated by determining the HHV-8 viral loads in 30 (formalin fixed, paraffinised)biopsy samples of Kaposi's sarcoma. Results The key factors for optimizing the method included anneal temperature and extension. The standard curve showed that the Ct value of ORF26 and β-actin had a good linear relationship (r2 ＞0.990) with the standard samples. The melt curve and electrophoresis showed the specificity of our study. The sensitivity of this method was very high and the detection rate could reach 100%. The viral loads were significantly higher in patients with classic Kaposi's sarcoma compared to patients with acquired immunodeficiency syndrome-associated Kaposi's sarcoma(69.18 va 8. 63, x2 =7.950,P=0.005).Conclusions The established RT-qPCR method is highly sensitive, which can be used as a routine assay for detecting HHV-8.This system offers a good platform for diagnosing other causative organism.
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<p><b>OBJECTIVE</b>To analyse the effects of different therapies on coronary artery disease (CAD).</p><p><b>METHODS</b>A total of 1055 patients who suffered from CAD diagnosed by coronary angiography were divided into three groups, namely pure drug therapy, percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) groups. Follow up was carried out from March to May in 2001, and the major adverse cardiac events (MACEs) including death, no-lethal myocardial infarction (MI) and revascularization were observed. In long-term observation, angina reoccurred, and their improvement was evaluated. The short-term period was defined as the duration of 30 days after discharge, and the long term period was defined as the duration from 30 days after discharge.</p><p><b>RESULTS</b>In the long-term period, the recurrences of angina both in PCI group and CABG group were lower than pure drug group (P 0.018, 0.002 respectively). No differences about long-term endpoint events were observed among these three groups (P > 0.05). Forty-two patients suffering from left main coronary disease were intervened by the three therapies, and there was no death or MI both in PCI and CABG groups, three patients died and suffered from AMI in pure drug therapy group (P = 0.015). In the short-term period, mortality in CABG group (5.77%) was higher than those in the other two groups (1.91% for PCI, and 1.40% for medical therapy, P = 0.002), and no obvious difference observed in the latter two groups. No significance was concluded about the recent MI among this three groups (P = 0.357). There were no differences on revascularization in these three groups.</p><p><b>CONCLUSIONS</b>Percutaneous coronary interventions can not only reduce the attack of angina but also improve the life quality of patients, however it can not improve the long-term existence but left main CAD.</p>
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Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Angina Pectoris , Angioplastia com Balão , Ponte de Artéria Coronária , Doença das Coronárias , Tratamento Farmacológico , Cirurgia Geral , Terapêutica , Seguimentos , Infarto do Miocárdio , Resultado do TratamentoRESUMO
Objective To evaluate the changes of QT dispersion (QTd) after successful percutaneous transluminal coronary angioplasty (PTCA) or stent implantation during the recovery period after acute myocardial infarction (AMI).Methods We studied 57 AMI patients who underwent PTCA or stent implantation and 86 normal coronary artery subjects used as control. Maximal and minimal QT interval (QT max and QT min) and QTd (QTd=QT max-QT min) were measured using 12-lead electrocardiography within 1 d before and 1 h after PTCA and stent implantation or coronary angiography.Results QTd and corrected QT dispersion (QTcd) were significantly prolonged in patients with AMI compared with control group. There was no significant difference in QTd and QTcd between anterior AMI and inferior one. QT max, QTc max, QTd and QTcd after PTCA or stent implantation were significantly decreased.Conclusion QTd and QTcd were significantly decreased after successful PTCA or stent implantation which were performed during the recovery period of AMI, which shows it can produce beneficial effects in decreasing the risk of ventricular arrhythmia and reducing mortality in AMI patients.