Background:Left bundle branch block(LBBB)-induced cardiomyopathy has been proposed,but the association between LBBB and cardiac resynchronization therapy(CRT)response remains unclear and practical criteria for selecti...Background:Left bundle branch block(LBBB)-induced cardiomyopathy has been proposed,but the association between LBBB and cardiac resynchronization therapy(CRT)response remains unclear and practical criteria for selecting CRT candidates are needed.Methods:One hundred and seventeen consecutive heart failure patients were reviewed,24 of whom received CRT.Only two patients had a clear temporal relation between cardiomyopathy and LBBB.Results:Compared with the patient with“cardiomyopathy-induced LBBB,”the patient with“LBBB-induced cardiomyopathy”had higher left ventricular(LV)wall thickness,higher LV wall thickening rate,higher peak circumferential strain,and longer peak circumferential strain delay.The LV deformation patterns in the two patients were obviously distinct on cardiovascular magnetic resonance tissue tracking.During follow-up,the patient with LBBB-induced cardiomyopathy had a good response to CRT(LV ejection fraction 23 before CRT vs.30%at 6 months vs.29 at 12 months vs.32%at 18 months;LV end-diastolic diameter 77 mm before CRT vs.66 mm at 6 months vs.62 mm at 12 months vs.63 mm at 18 months),and the other patient had no response to CRT(LV ejection fraction 29 before CRT vs.29%at 6 months vs.26 at 12 months vs.22%at 24 months;LV end-diastolic diameter 85 mm before CRT vs.88 mm at 6 months vs.85 mm at 12 months vs.84 mm at 24 months).Conclusion:The temporal relation between cardiomyopathy and LBBB could be a determinant for CRT response.Cardiovascular magnetic resonance tissue tracking may be a useful tool to identify the chronological order and a principal consideration for selecting candidates for CRT.Larger prospective clinical trials are needed to study the prevalence of,time course of,and risk factors for LBBB-induced cardiomyopathy.展开更多
Objective:The aim of this study was to validate the accuracy of a new automatic method for scar segmentation and compare its performance with that of two other frequently used segmentation algorithms.Methods:Twenty-si...Objective:The aim of this study was to validate the accuracy of a new automatic method for scar segmentation and compare its performance with that of two other frequently used segmentation algorithms.Methods:Twenty-six late gadolinium enhancement cardiovascular magnetic resonance images of diseased hearts were segmented by the full width at half maximum(FWHM)method,the n standard deviations(n SD)method,and our new automatic method.The results of the three methods were compared with the consensus ground truth obtained by manual segmentation of the ventricular boundaries.Results:Our automatic method yielded the highest Dice score and the lowest volume difference compared with the consensus ground truth segmentation.The n SD method produced large variations in the Dice score and the volume difference.The FWHM method yielded the lowest Dice score and the greatest volume difference compared with the automatic,6SD,and 8SD methods,but resulted in less variation when different observers segmented the images.Conclusion:The automatic method introduced in this study is highly reproducible and objective.Because it requires no manual intervention,it may be useful for processing large datasets produced in clinical applications.展开更多
Background:Elderly adults with atrial fi brillation(AF)are at increased risk of frailty and thromboembolic complications.However,studies on the prevalence of frailty in AF patients and data on the relationship between...Background:Elderly adults with atrial fi brillation(AF)are at increased risk of frailty and thromboembolic complications.However,studies on the prevalence of frailty in AF patients and data on the relationship between frailty and the use of anticoagulants are limited.Methods:We conducted a cross-sectional study involving 500 participants.Patients aged 65 years or older were consecutively selected from the Chinese Atrial Fibrillation Registry study.The patient’s frailty status was assessed with use of the Canadian Study of Health and Aging Clinical Frailty Scale.We assessed the prevalence of and factors associated with frailty,and how frailty affects anticoagulant therapy.Results:In 500 elderly adults with AF(age 75.2±6.7 years;51.6%female),201 patients(40.2%)were frail.The prevalence of frailty was higher in females(P=0.002)and increased with age and CHA 2 DS 2-VASc score(P for trend less than 0.001 for both).The factors associated with frailty were a history of heart failure(odds ratio[OR]2.40,95%confi dence interval[CI]1.39–4.14),female sex(OR 2.09,95%CI 1.27–3.43),and advanced age(OR 1.13,95%CI 1.09–1.17).Frail patients were signifi cantly less likely to have ever been prescribed anticoagulants compared with nonfrail patients(81.7 vs.54.9%,P<0.001).Conclusions:Frailty is prevalent in elderly adults with AF,especially in females,those of advanced age,and those with heart failure.Frailty status has a signifi cant impact on prescription of anticoagulants for high-risk AF patients.展开更多
Background:Signifi cant left ventricular dysfunction may arise in right-sided accessory pathways with ventricular preexcitation in the absence of recurrent or incessant tachycardia.This has just been realized and not ...Background:Signifi cant left ventricular dysfunction may arise in right-sided accessory pathways with ventricular preexcitation in the absence of recurrent or incessant tachycardia.This has just been realized and not enough attention has been paid to it.Methods:In the last 7 years,we identifi ed 12 consecutive children with a diagnosis of ventricular preexcitation–induced dilated cardiomyopathy.This report describes the clinical and echocardiographic characteristics of the patients before and after ablation.Results:Dyssynchronous ventricular contraction was observed by M-mode echocardiography and two-dimensional strain analysis in all patients.The basal and middle segments of the interventricular septum became thin and moved similarly to an aneurysm,with typical bulging during the end of systole.The locations of the accessory pathways were the right-sided septum(n=5)and the free wall(n=7).Left ventricular synchrony was obtained shortly after ablation.The left ventricular function recovered to normal and the left ventricular end-diastolic diameter decreased gradually during follow-up.Conclusions:A causal relationship between ventricular preexcitation and the development of dilated cardiomyopathy is supported by the complete recovery of left ventricular function and reversed left ventricular remodeling after the loss of ventricular preexcitation.Preexcitation-related dyssynchrony was thought to be the crucial mechanism.Ventricular preexcitation–induced dilated cardiomyopathy is an indication for ablation with a good prognosis.展开更多
Long QT syndrome(LQTS),which is caused by an ion channel–related gene mutation,is a malignant heart disease with a clinical course of a high incidence of ventricular fi brillation and sudden cardiac death in the youn...Long QT syndrome(LQTS),which is caused by an ion channel–related gene mutation,is a malignant heart disease with a clinical course of a high incidence of ventricular fi brillation and sudden cardiac death in the young.Mutations in KCNH2(which encodes potassium voltage-gated channel subfamily H member 2)are responsible for LQTS in many patients.Here we report the novel mutation c.1898A>C in KCNH2 in a Chinese family with LQTS through whole-exome sequencing.The c.916dupA mutation in JUP(which encodes junction plakoglobin)is also discovered.Mutations in JUP were found to be associated with arrhythmogenic right ventricular cardiomyopathy.The double mutation in the proband may help explain his severe clinical manifestations,such as sudden cardiac death at an early age.Sequencing for the proband’s family members revealed that the KCNH2 mutation descends from his paternal line,while the mutation in JUP came from his maternal line.The data provided in this study may help expand the spectrum of LQTS-related KCNH2 mutations and add support to the genetic diagnosis and counseling of families affected by malignant arrhythmias.展开更多
In February 2022,we were deeply shocked and sad-dened to hear of the death of Dr C.Richard Conti,a legendary cardiovascular educator,researcher,and Co-Editor-in-Chief of Cardiovascular Innovations and Applications.Dr ...In February 2022,we were deeply shocked and sad-dened to hear of the death of Dr C.Richard Conti,a legendary cardiovascular educator,researcher,and Co-Editor-in-Chief of Cardiovascular Innovations and Applications.Dr Conti was a fi rst-class editor who led CVIA with great commitment.The Editorial Board members wish to express their great sad-ness about the passing of Dr Conti;his enthusias-tic and passionate work for the journal will not be forgotten.展开更多
Objective:The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome(MFS)or incomplete MFS phenotypes.Methods:Three unrelated patients with a de...Objective:The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome(MFS)or incomplete MFS phenotypes.Methods:Three unrelated patients with a defi nite or suspected clinical diagnosis of MFS and their family members were recruited for research.Genomic DNA was extracted from peripheral blood of these patients and their family members.All the exons were sequenced by next-generation sequencing and the variants were further validated by Sanger sequencing.The functional consequences of the mutations were analyzed with various genomic resources and bioinformatics tools.Results:Three FBN1 mutations were identifi ed in the three patients,including one novel mutation(2125G>A)and two previously reported mutations(4786C>T and 6325C>T).It was interesting to note that the parents of these patients were normal as assessed by clinical features or genetic testing,but all these mutations were detected in their offspring,except for the variant 6325C>T.We also found that a few young members of the family of probands(proband 1 and proband 2)have exhibited no manifestations of MFS so far,although they carry the same disease-causing mutation.Conclusions:We found three FBN1 mutations in three unrelated Chinese families with MFS by genome sequencing,and the relationship between genotypes and phenotypes in MFS patients needs further exploration.展开更多
Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Tit...Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Titin is associated with many diseases,such as hypertrophic cardiomyopathy and DCM.Here we screened three Chinese families affected by DCM,and found that each harbors a stop-gain or splice site mutation in TTN(c.G20137T,c.G52522T,c.44610-2A>C).Assessment of the probands by electrocardiogram,B-mode echocardiography,and cardiac magnetic resonance imaging revealed impaired cardiac function,arrhythmia,or abnormal cardiac structure.In conclusion,using whole exome sequencing,we found three unreported TTN mutations associated with DCM.This has expanded the TTN mutation spectrum of Chinese DCM patients,especially in Henan,the most populous province.These data provide new genetic targets for the diagnosis and treatment of DCM,and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.展开更多
The tapered angles of an artery significantly influence the local hemodynamics. However, as gravity is considered, little is known about the effect of tapered angles on the hemodynamics. In this study, we explored whe...The tapered angles of an artery significantly influence the local hemodynamics. However, as gravity is considered, little is known about the effect of tapered angles on the hemodynamics. In this study, we explored whether the effect of tapered angles on the distribution of blood flow pressure (DBFP) differed with gravity considered or not. Numerical simulations of the DBFP in a single vessel were performed based on such tapered angles as 0°, 0.5° and 1°. In the model used for simulation, gravity was introduced as a body force. We obtained the following simulations: i) The larger the tapered angles were, the better distributed the blood flow pressure;ii) The tapered effect was an important factor leading to nonlinearity in blood flow pressure;iii) Gravity affected DBFP coupling with the tapered angles, yet independently influenced the dimension of the DBFP. At the same time, the effective intensity of gravity decreased with the increase of tapered angles.展开更多
Background:Oral anti-coagulants(OAC)are the intervention for the prevention of stroke,which consistently improve clinical outcomes and survival among patients with atrial fibrillation(AF).The main purpose of this stud...Background:Oral anti-coagulants(OAC)are the intervention for the prevention of stroke,which consistently improve clinical outcomes and survival among patients with atrial fibrillation(AF).The main purpose of this study is to identify problems in OAC utilization among hospitalized patients with AF in China.Methods:Using data from the Improving Care for Cardiovascular Disease in China-Atrial Fibrillation(CCC-AF)registry,guideline-recommended OAC use in eligible patients was assessed.Results:A total of 52,530 patients with non-valvular AF were enrolled from February 2015 to December 2019,of whom 38,203 were at a high risk of stroke,9717 were at a moderate risk,and 4610 were at a low risk.On admission,only 20.0%(6075/30,420)of patients with a diagnosed AF and a high risk of stroke were taking OAC.The use of pre-hospital OAC on admission was associated with a lower risk of new-onset ischemic stroke/transient ischemic attack among the diagnosed AF population(adjusted odds ratio:0.54,95%confidence interval:0.43-0.68;P<0.001).At discharge,the prescription rate of OAC was 45.2%(16,757/37,087)in eligible patients with high stroke risk and 60.7%(2778/4578)in eligible patients with low stroke risk.OAC utilization in patients with high stroke risk on admission or at discharge both increased largely over time(all P<0.001).Multivariate analysis showed that OAC utilization at discharge was positively associated with in-hospital rhythm control strategies,including catheter ablation(adjusted odds ratio[OR]11.63,95%confidence interval[CI]10.04-13.47;P<0.001),electronic cardioversion(adjusted OR 2.41,95%CI 1.65-3.51;P<0.001),and anti-arrhythmic drug use(adjusted OR 1.45,95%CI 1.38-1.53;P<0.001).Conclusions:In hospitals participated in the CCC-AF project,>70%of AF patients were at a high risk of stroke.Although poor performance on guideline-recommended OAC use was found in this study,over time the CCC-AF project has made progress in stroke prevention in the Chinese AF population.Registration:ClinicalTrials.gov,NCT02309398.展开更多
Background:The age,biomarkers,and clinical history(ABC)-atrial fibrillation(AF)-Stroke score have been proposed to refine stroke risk stratification,beyond what clinical risk scores such as the CHA2DS2-VASc score can ...Background:The age,biomarkers,and clinical history(ABC)-atrial fibrillation(AF)-Stroke score have been proposed to refine stroke risk stratification,beyond what clinical risk scores such as the CHA2DS2-VASc score can offer.This study aimed to identify risk factors associated with thromboembolism and evaluate the performance of the ABC-AF-Stroke score in predicting thromboembolism in non-anticoagulated AF patients following successful ablations.Methods:A total of 2692 patients who underwent successful ablations with discontinued anticoagulation after a 3-month blanking period in the Chinese Atrial Fibrillation Registry(CAFR)between 2013 and 2019 were included.Cox regression analysis was conducted to present the association of risk factors with thromboembolism risk.The ABC-AF-Stroke score was evaluated in terms of discrimination,including concordance index(C-index),net reclassification improvement(NRI)and integrated discrimination improvement(IDI),clinical utilization by decision curve analysis(DCA),and calibration by comparing the predicted risk with the observed annualized event rate.Results:After a median follow-up of 3.5 years,64 patients experienced thromboembolism events.Age,prior history of stroke/transient ischemic attack(TIA),high-sensitivity cardiac troponin T(cTnT-hs),and N-terminal pro-B-type natriuretic peptide(NT-proBNP)were independently associated with thromboembolism risk.The ABC-AF-Stroke score performed statistically significantly better than the CHA2DS2-VASc score in terms of C-index(0.67,95%confidence interval[CI]:0.59-0.74 vs.0.60,95%CI:0.52-0.67,P=0.030)and reclassification capacity.The DCA implied that the ABC-AF-Stroke score could identify more thromboembolism events without increasing the false positive rate compared to the CHA2DS2-VASc score.The calibration curve showed that the ABC-AF-Stroke score was well calibrated in this population.Conclusions:In this real-world study enrolling non-anticoagulated AF patients following successful ablations,age,prior history of stroke/TIA,level of NT-proBNP,and cTnT-hs were independently associated with an increased risk of thromboembolism.The ABC-AF-Stroke score was well-calibrated and statistically significantly outperformed the CHA2DS2-VASc score in predicting thromboembolism risk.展开更多
Objective:Previous studies indicated that patients with atrial fibrillation(AF)and moderate-to-severe chronic kidney disease(CKD)are at a higher risk of thromboembolism and bleeding during anticoagulation.Whether mild...Objective:Previous studies indicated that patients with atrial fibrillation(AF)and moderate-to-severe chronic kidney disease(CKD)are at a higher risk of thromboembolism and bleeding during anticoagulation.Whether mild CKD is associated with an increased risk of thromboembolism and bleeding in AF patients remains unknown.This study aimed to evaluate the impact of mild CKD on thromboembolism and major bleeding among patients with AF.Methods:Baseline serum creatinine was available in 17,559 of 25,512 patients enrolled in the China-AF study between August 2011 and December 2018.After excluding those who underwent AF ablation or with moderate-to-severe CKD,7191 non-valvular AF patients(2059 with mild CKD and 5132 with normal renal function)with regular follow-up for at least 6 months were included.Primary outcomes were the time to the first occurrence of thromboembolic and major bleeding events.Results:Over a mean follow-up of(44.4±23.4)months,639 thromboembolism and 231 major bleeding events occurred.The crude incidence rates of thromboembolism were higher in the mild CKD group than that of the normal renal function group(3.0/100 person-years vs.2.2/100 person-years,P<0.0001),while the crude incidence rates of major bleeding were comparable between the two groups(1.0/100 person-years vs.0.8/100 person-years,P=0.076).After multivariate analyses,mild CKD was not associated with an increased risk of thromboembolism(HR=1.05,95%CI:0.89-1.25,P=0.547)or major bleeding(HR=1.11,95%CI:0.84–1.47,P=0.476).Conclusions:Mild CKD was not an independent risk factor of thromboembolism or major bleeding in patients with AF.展开更多
基金the Ministry of Science and Technology of the People’s Republic of China(grants 2016YFC1301000 and 2016YFC0900900).
文摘Background:Left bundle branch block(LBBB)-induced cardiomyopathy has been proposed,but the association between LBBB and cardiac resynchronization therapy(CRT)response remains unclear and practical criteria for selecting CRT candidates are needed.Methods:One hundred and seventeen consecutive heart failure patients were reviewed,24 of whom received CRT.Only two patients had a clear temporal relation between cardiomyopathy and LBBB.Results:Compared with the patient with“cardiomyopathy-induced LBBB,”the patient with“LBBB-induced cardiomyopathy”had higher left ventricular(LV)wall thickness,higher LV wall thickening rate,higher peak circumferential strain,and longer peak circumferential strain delay.The LV deformation patterns in the two patients were obviously distinct on cardiovascular magnetic resonance tissue tracking.During follow-up,the patient with LBBB-induced cardiomyopathy had a good response to CRT(LV ejection fraction 23 before CRT vs.30%at 6 months vs.29 at 12 months vs.32%at 18 months;LV end-diastolic diameter 77 mm before CRT vs.66 mm at 6 months vs.62 mm at 12 months vs.63 mm at 18 months),and the other patient had no response to CRT(LV ejection fraction 29 before CRT vs.29%at 6 months vs.26 at 12 months vs.22%at 24 months;LV end-diastolic diameter 85 mm before CRT vs.88 mm at 6 months vs.85 mm at 12 months vs.84 mm at 24 months).Conclusion:The temporal relation between cardiomyopathy and LBBB could be a determinant for CRT response.Cardiovascular magnetic resonance tissue tracking may be a useful tool to identify the chronological order and a principal consideration for selecting candidates for CRT.Larger prospective clinical trials are needed to study the prevalence of,time course of,and risk factors for LBBB-induced cardiomyopathy.
基金This work was supported by grants from the National Key Research and Development Program of China(2016YFC1301002 to Jianzeng Dong)the National Natural Science Foundation of China(81901841 to Dongdong Deng,81671650 and 81971569 to Yi He)Dongdong Deng also acknowledges support from Dalian University of Technology(DUT18RC(3)068).
文摘Objective:The aim of this study was to validate the accuracy of a new automatic method for scar segmentation and compare its performance with that of two other frequently used segmentation algorithms.Methods:Twenty-six late gadolinium enhancement cardiovascular magnetic resonance images of diseased hearts were segmented by the full width at half maximum(FWHM)method,the n standard deviations(n SD)method,and our new automatic method.The results of the three methods were compared with the consensus ground truth obtained by manual segmentation of the ventricular boundaries.Results:Our automatic method yielded the highest Dice score and the lowest volume difference compared with the consensus ground truth segmentation.The n SD method produced large variations in the Dice score and the volume difference.The FWHM method yielded the lowest Dice score and the greatest volume difference compared with the automatic,6SD,and 8SD methods,but resulted in less variation when different observers segmented the images.Conclusion:The automatic method introduced in this study is highly reproducible and objective.Because it requires no manual intervention,it may be useful for processing large datasets produced in clinical applications.
基金This work was supported by the National Key Research and Development Program of China(2016YFC0900901,2016YFC1301002,2017YFC0908803,2018YFC1312501)a grant from the National Natural Science Foundation of China(81530016).
文摘Background:Elderly adults with atrial fi brillation(AF)are at increased risk of frailty and thromboembolic complications.However,studies on the prevalence of frailty in AF patients and data on the relationship between frailty and the use of anticoagulants are limited.Methods:We conducted a cross-sectional study involving 500 participants.Patients aged 65 years or older were consecutively selected from the Chinese Atrial Fibrillation Registry study.The patient’s frailty status was assessed with use of the Canadian Study of Health and Aging Clinical Frailty Scale.We assessed the prevalence of and factors associated with frailty,and how frailty affects anticoagulant therapy.Results:In 500 elderly adults with AF(age 75.2±6.7 years;51.6%female),201 patients(40.2%)were frail.The prevalence of frailty was higher in females(P=0.002)and increased with age and CHA 2 DS 2-VASc score(P for trend less than 0.001 for both).The factors associated with frailty were a history of heart failure(odds ratio[OR]2.40,95%confi dence interval[CI]1.39–4.14),female sex(OR 2.09,95%CI 1.27–3.43),and advanced age(OR 1.13,95%CI 1.09–1.17).Frail patients were signifi cantly less likely to have ever been prescribed anticoagulants compared with nonfrail patients(81.7 vs.54.9%,P<0.001).Conclusions:Frailty is prevalent in elderly adults with AF,especially in females,those of advanced age,and those with heart failure.Frailty status has a signifi cant impact on prescription of anticoagulants for high-risk AF patients.
文摘Background:Signifi cant left ventricular dysfunction may arise in right-sided accessory pathways with ventricular preexcitation in the absence of recurrent or incessant tachycardia.This has just been realized and not enough attention has been paid to it.Methods:In the last 7 years,we identifi ed 12 consecutive children with a diagnosis of ventricular preexcitation–induced dilated cardiomyopathy.This report describes the clinical and echocardiographic characteristics of the patients before and after ablation.Results:Dyssynchronous ventricular contraction was observed by M-mode echocardiography and two-dimensional strain analysis in all patients.The basal and middle segments of the interventricular septum became thin and moved similarly to an aneurysm,with typical bulging during the end of systole.The locations of the accessory pathways were the right-sided septum(n=5)and the free wall(n=7).Left ventricular synchrony was obtained shortly after ablation.The left ventricular function recovered to normal and the left ventricular end-diastolic diameter decreased gradually during follow-up.Conclusions:A causal relationship between ventricular preexcitation and the development of dilated cardiomyopathy is supported by the complete recovery of left ventricular function and reversed left ventricular remodeling after the loss of ventricular preexcitation.Preexcitation-related dyssynchrony was thought to be the crucial mechanism.Ventricular preexcitation–induced dilated cardiomyopathy is an indication for ablation with a good prognosis.
基金the National Key R&D Plan under grant no.2018YFC1312505 to Xiaoyan Zhao and the Henan University of Chinese Medicine under grant no.00104311-2019-55 to Jinxin Miao.
文摘Long QT syndrome(LQTS),which is caused by an ion channel–related gene mutation,is a malignant heart disease with a clinical course of a high incidence of ventricular fi brillation and sudden cardiac death in the young.Mutations in KCNH2(which encodes potassium voltage-gated channel subfamily H member 2)are responsible for LQTS in many patients.Here we report the novel mutation c.1898A>C in KCNH2 in a Chinese family with LQTS through whole-exome sequencing.The c.916dupA mutation in JUP(which encodes junction plakoglobin)is also discovered.Mutations in JUP were found to be associated with arrhythmogenic right ventricular cardiomyopathy.The double mutation in the proband may help explain his severe clinical manifestations,such as sudden cardiac death at an early age.Sequencing for the proband’s family members revealed that the KCNH2 mutation descends from his paternal line,while the mutation in JUP came from his maternal line.The data provided in this study may help expand the spectrum of LQTS-related KCNH2 mutations and add support to the genetic diagnosis and counseling of families affected by malignant arrhythmias.
文摘In February 2022,we were deeply shocked and sad-dened to hear of the death of Dr C.Richard Conti,a legendary cardiovascular educator,researcher,and Co-Editor-in-Chief of Cardiovascular Innovations and Applications.Dr Conti was a fi rst-class editor who led CVIA with great commitment.The Editorial Board members wish to express their great sad-ness about the passing of Dr Conti;his enthusias-tic and passionate work for the journal will not be forgotten.
文摘Objective:The purpose of this work was to obtain the phenotypes and detect potential mutations in three Chinese patients with Marfan syndrome(MFS)or incomplete MFS phenotypes.Methods:Three unrelated patients with a defi nite or suspected clinical diagnosis of MFS and their family members were recruited for research.Genomic DNA was extracted from peripheral blood of these patients and their family members.All the exons were sequenced by next-generation sequencing and the variants were further validated by Sanger sequencing.The functional consequences of the mutations were analyzed with various genomic resources and bioinformatics tools.Results:Three FBN1 mutations were identifi ed in the three patients,including one novel mutation(2125G>A)and two previously reported mutations(4786C>T and 6325C>T).It was interesting to note that the parents of these patients were normal as assessed by clinical features or genetic testing,but all these mutations were detected in their offspring,except for the variant 6325C>T.We also found that a few young members of the family of probands(proband 1 and proband 2)have exhibited no manifestations of MFS so far,although they carry the same disease-causing mutation.Conclusions:We found three FBN1 mutations in three unrelated Chinese families with MFS by genome sequencing,and the relationship between genotypes and phenotypes in MFS patients needs further exploration.
基金the National Key R&D Program of China(grant no.018YFC1312505 to X.Z.)the Henan University of Chinese Medicine(grant no.00104311-2019-55 to J.M.).
文摘Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Titin is associated with many diseases,such as hypertrophic cardiomyopathy and DCM.Here we screened three Chinese families affected by DCM,and found that each harbors a stop-gain or splice site mutation in TTN(c.G20137T,c.G52522T,c.44610-2A>C).Assessment of the probands by electrocardiogram,B-mode echocardiography,and cardiac magnetic resonance imaging revealed impaired cardiac function,arrhythmia,or abnormal cardiac structure.In conclusion,using whole exome sequencing,we found three unreported TTN mutations associated with DCM.This has expanded the TTN mutation spectrum of Chinese DCM patients,especially in Henan,the most populous province.These data provide new genetic targets for the diagnosis and treatment of DCM,and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.
文摘The tapered angles of an artery significantly influence the local hemodynamics. However, as gravity is considered, little is known about the effect of tapered angles on the hemodynamics. In this study, we explored whether the effect of tapered angles on the distribution of blood flow pressure (DBFP) differed with gravity considered or not. Numerical simulations of the DBFP in a single vessel were performed based on such tapered angles as 0°, 0.5° and 1°. In the model used for simulation, gravity was introduced as a body force. We obtained the following simulations: i) The larger the tapered angles were, the better distributed the blood flow pressure;ii) The tapered effect was an important factor leading to nonlinearity in blood flow pressure;iii) Gravity affected DBFP coupling with the tapered angles, yet independently influenced the dimension of the DBFP. At the same time, the effective intensity of gravity decreased with the increase of tapered angles.
文摘Background:Oral anti-coagulants(OAC)are the intervention for the prevention of stroke,which consistently improve clinical outcomes and survival among patients with atrial fibrillation(AF).The main purpose of this study is to identify problems in OAC utilization among hospitalized patients with AF in China.Methods:Using data from the Improving Care for Cardiovascular Disease in China-Atrial Fibrillation(CCC-AF)registry,guideline-recommended OAC use in eligible patients was assessed.Results:A total of 52,530 patients with non-valvular AF were enrolled from February 2015 to December 2019,of whom 38,203 were at a high risk of stroke,9717 were at a moderate risk,and 4610 were at a low risk.On admission,only 20.0%(6075/30,420)of patients with a diagnosed AF and a high risk of stroke were taking OAC.The use of pre-hospital OAC on admission was associated with a lower risk of new-onset ischemic stroke/transient ischemic attack among the diagnosed AF population(adjusted odds ratio:0.54,95%confidence interval:0.43-0.68;P<0.001).At discharge,the prescription rate of OAC was 45.2%(16,757/37,087)in eligible patients with high stroke risk and 60.7%(2778/4578)in eligible patients with low stroke risk.OAC utilization in patients with high stroke risk on admission or at discharge both increased largely over time(all P<0.001).Multivariate analysis showed that OAC utilization at discharge was positively associated with in-hospital rhythm control strategies,including catheter ablation(adjusted odds ratio[OR]11.63,95%confidence interval[CI]10.04-13.47;P<0.001),electronic cardioversion(adjusted OR 2.41,95%CI 1.65-3.51;P<0.001),and anti-arrhythmic drug use(adjusted OR 1.45,95%CI 1.38-1.53;P<0.001).Conclusions:In hospitals participated in the CCC-AF project,>70%of AF patients were at a high risk of stroke.Although poor performance on guideline-recommended OAC use was found in this study,over time the CCC-AF project has made progress in stroke prevention in the Chinese AF population.Registration:ClinicalTrials.gov,NCT02309398.
基金funded by the National Key Research and Development Program of China(2020YFC2004803)the National Natural Science Foundation of China(82100326,82103904)+2 种基金the Beijing Municipal Science and Technology Commission(D171100006817001)the Beijing Municipal Education Commission(KM202210025012)The construction of CARF was supported by grants from Bristol-Myers Squibb,Pfizer,Johnson&Johnson,Boehringer Ingelheim,and Bayer.
文摘Background:The age,biomarkers,and clinical history(ABC)-atrial fibrillation(AF)-Stroke score have been proposed to refine stroke risk stratification,beyond what clinical risk scores such as the CHA2DS2-VASc score can offer.This study aimed to identify risk factors associated with thromboembolism and evaluate the performance of the ABC-AF-Stroke score in predicting thromboembolism in non-anticoagulated AF patients following successful ablations.Methods:A total of 2692 patients who underwent successful ablations with discontinued anticoagulation after a 3-month blanking period in the Chinese Atrial Fibrillation Registry(CAFR)between 2013 and 2019 were included.Cox regression analysis was conducted to present the association of risk factors with thromboembolism risk.The ABC-AF-Stroke score was evaluated in terms of discrimination,including concordance index(C-index),net reclassification improvement(NRI)and integrated discrimination improvement(IDI),clinical utilization by decision curve analysis(DCA),and calibration by comparing the predicted risk with the observed annualized event rate.Results:After a median follow-up of 3.5 years,64 patients experienced thromboembolism events.Age,prior history of stroke/transient ischemic attack(TIA),high-sensitivity cardiac troponin T(cTnT-hs),and N-terminal pro-B-type natriuretic peptide(NT-proBNP)were independently associated with thromboembolism risk.The ABC-AF-Stroke score performed statistically significantly better than the CHA2DS2-VASc score in terms of C-index(0.67,95%confidence interval[CI]:0.59-0.74 vs.0.60,95%CI:0.52-0.67,P=0.030)and reclassification capacity.The DCA implied that the ABC-AF-Stroke score could identify more thromboembolism events without increasing the false positive rate compared to the CHA2DS2-VASc score.The calibration curve showed that the ABC-AF-Stroke score was well calibrated in this population.Conclusions:In this real-world study enrolling non-anticoagulated AF patients following successful ablations,age,prior history of stroke/TIA,level of NT-proBNP,and cTnT-hs were independently associated with an increased risk of thromboembolism.The ABC-AF-Stroke score was well-calibrated and statistically significantly outperformed the CHA2DS2-VASc score in predicting thromboembolism risk.
基金supported by the National Key Research and Development Program of China(2016YFC0900901,2016YFC1301002,and 2020YFC2004803)grant from Beijing Municipal Commission of Science and Technology(D171100006817001).
文摘Objective:Previous studies indicated that patients with atrial fibrillation(AF)and moderate-to-severe chronic kidney disease(CKD)are at a higher risk of thromboembolism and bleeding during anticoagulation.Whether mild CKD is associated with an increased risk of thromboembolism and bleeding in AF patients remains unknown.This study aimed to evaluate the impact of mild CKD on thromboembolism and major bleeding among patients with AF.Methods:Baseline serum creatinine was available in 17,559 of 25,512 patients enrolled in the China-AF study between August 2011 and December 2018.After excluding those who underwent AF ablation or with moderate-to-severe CKD,7191 non-valvular AF patients(2059 with mild CKD and 5132 with normal renal function)with regular follow-up for at least 6 months were included.Primary outcomes were the time to the first occurrence of thromboembolic and major bleeding events.Results:Over a mean follow-up of(44.4±23.4)months,639 thromboembolism and 231 major bleeding events occurred.The crude incidence rates of thromboembolism were higher in the mild CKD group than that of the normal renal function group(3.0/100 person-years vs.2.2/100 person-years,P<0.0001),while the crude incidence rates of major bleeding were comparable between the two groups(1.0/100 person-years vs.0.8/100 person-years,P=0.076).After multivariate analyses,mild CKD was not associated with an increased risk of thromboembolism(HR=1.05,95%CI:0.89-1.25,P=0.547)or major bleeding(HR=1.11,95%CI:0.84–1.47,P=0.476).Conclusions:Mild CKD was not an independent risk factor of thromboembolism or major bleeding in patients with AF.
