Abstract:
AIMS:Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been reported. We present, for the first time, a novel loss-of-function mutation coding for an L-type calcium channel subunit. METHODS AND RESULTS:The electrocardiogram of the affected member of a single family revealed a QT interval of 317 ms (QTc 329 ms) with tall, narrow, and symmetrical T-waves. Invasive electrophysiological testing showed short ventricular refractory periods and increased vulnerability to induce ventricular fibrillation. DNA screening of the patient identified no mutation in previously known SQTS genes; however, a new variant at a heterozygous state was identified in the CACNA2D1 gene (nucleotide c.2264G > C; amino acid p.Ser755Thr), coding for the Ca(v)α(2)δ-1 subunit of the L-type calcium channel. The pathogenic role of the p.Ser755Thr variant of the CACNA2D1 gene was analysed by using co-expression of the two other L-type calcium channel subunits, Ca(v)1.2α1 and Ca(v)β(2b), in HEK-293 cells. Barium currents (I(Ba)) were recorded in these cells under voltage-clamp conditions using the whole-cell configuration. Co-expression of the p.Ser755Thr Ca(v)α(2)δ-1 subunit strongly reduced the I(Ba) by more than 70% when compared with the co-expression of the wild-type (WT) variant. Protein expression of the three subunits was verified by performing western blots of total lysates and cell membrane fractions of HEK-293 cells. The p.Ser755Thr variant of the Ca(v)α(2)δ-1 subunit was expressed at a similar level compared with the WT subunit in both fractions. Since the mutant Ca(v)α(2)δ-1 subunit did not modify the expression of the pore-forming subunit of the L-type calcium channel, Ca(v)1.2α1, it suggests that single channel biophysical properties of the L-type channel are altered by this variant. CONCLUSION:In the present study, we report the first pathogenic mutation in the CACNA2D1 gene in humans, which causes a new variant of SQTS. It remains to be determined whether mutations in this gene lead to other manifestations of the J-wave syndrome.
journal_name
Eur Heart Jjournal_title
European heart journalauthors
Templin C,Ghadri JR,Rougier JS,Baumer A,Kaplan V,Albesa M,Sticht H,Rauch A,Puleo C,Hu D,Barajas-Martinez H,Antzelevitch C,Lüscher TF,Abriel H,Duru Fdoi
10.1093/eurheartj/ehr076subject
Has Abstractpub_date
2011-05-01 00:00:00pages
1077-88issue
9eissn
0195-668Xissn
1522-9645pii
ehr076journal_volume
32pub_type
杂志文章abstract::The patient, a 74-year-old man, developed a persistent nonparoxysmal junctional accelerated rhythm at rate of 60-75 beats min-1 because of chronic depressed sinus node function. Intravenous atropine resulted in no change of junctional pacemaker rate but i.v. isoproterenol significantly accelerated it suggesting that a...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061656
更新日期:1984-04-01 00:00:00
abstract::The utility of high-frequency current applied through the distal electrode of a conventional electrode-catheter for altering atrio-ventricular conduction was studied in 18 anaesthetized dogs. Following adequate unipolar His bundle recording, current was applied over periods of 20-30 s, with an output power of 30 W. Co...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a059450
更新日期:1989-02-01 00:00:00
abstract:AIMS:Chronic kidney disease is directly associated with cardiovascular complications. Heart remodelling, including fibrosis, hypertrophy, and decreased vascularization, is frequently present in renal diseases. Our objective was to investigate the impact of calcineurin inhibitors (CNI) on cardiac remodelling and functio...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehq436
更新日期:2011-08-01 00:00:00
abstract::To determine the effects of acute myocardial infarction on the extent and distribution of mural stress on surviving myocardial tissue, coronary artery occlusion was surgically produced in rats. Following haemodynamic measurements in vivo, the characteristics of cardiac anatomy were determined and found to consist of a...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/16.suppl_n.37
更新日期:1995-12-01 00:00:00
abstract::To evaluate the efficacy and safety of hirudin, a direct thrombin inhibitor, in patients with acute myocardial infarction, a dose-finding, angiography study was carried out. After a pilot phase in 10 patients treated with a bolus of 0.1 mg.kg-1 and a continuous infusion of 0.06 mg.kg-1.h-1 (dose group I), two doses of...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/16.suppl_d.33
更新日期:1995-07-01 00:00:00
abstract:AIMS:We investigated the prevalence of prior myocardial infarction (MI) and incidence of ischaemic cardiovascular (CV) events among atrial fibrillation (AF) patients. METHODS AND RESULTS:In ROCKET AF, 14 264 patients with nonvalvular AF were randomized to rivaroxaban or warfarin. The key efficacy outcome for these ana...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/eht428
更新日期:2014-01-01 00:00:00
abstract::An exercise test was performed in 455 patients in the third week after acute myocardial infarction (AMI). One hundred and seventeen (26%) of them were considered as having a complicated AMI. During a follow-up of 4.5 years their mortality was 49% vs 23% in the remaining patients with uncomplicated AMI. The survival of...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a062329
更新日期:1987-06-01 00:00:00
abstract:BACKGROUND:The economic evaluation of the results of the Global Utilization of Streptokinase and Tissue Plasminogen Activator for Occluded Coronary Artery (GUSTO) trial found that recombinant tissue plasminogen activator is more cost-effective than streptokinase for the treatment of acute myocardial infarction. AIM:We...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1053/euhj.1998.1092
更新日期:1998-10-01 00:00:00
abstract:AIMS:Long-term randomized comparisons of percutaneous coronary intervention (PCI) to coronary artery bypass grafting (CABG) in left main coronary (LM) disease and/or three-vessel disease (3VD) patients have been limited. This analysis compares 3-year outcomes in LM and/or 3VD patients treated with CABG or PCI with TAXU...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehr213
更新日期:2011-09-01 00:00:00
abstract:Aims:Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurren...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/eurheartj/ehx314
更新日期:2018-03-21 00:00:00
abstract:AIMS:To evaluate the accuracy of echocardiography in conjunction with quantitative high-dose dipyridamole technetium-99m sestamibi tomography (SPECT) in detecting coronary allograft vasculopathy. METHODS AND RESULTS:Seventy-eight consecutive heart transplant recipients underwent echocardiography while at rest and high...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.2000.2422
更新日期:2001-06-01 00:00:00
abstract::Chronically ischaemic myocardium from patients with coronary heart disease was investigated by light and electron microscopy using tissue biopsies taken during cardiac surgery. Light microscopy showed a significantly increased amount of fibrotic material, cell size was variable. By electron microscopy, the most obviou...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/9.suppl_a.141
更新日期:1988-01-01 00:00:00
abstract:AIM:To define the long-term outcome of patients presenting with acute coronary syndrome [ST-segment elevation myocardial infarction (STEMI), and non-STEMI and unstable angina acute coronary syndrome (ACS) without biomarker elevation] and to test the hypothesis that the GRACE (Global Registry of Acute Coronary Events) r...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/eurheartj/ehq326
更新日期:2010-11-01 00:00:00
abstract:AIM:In this study we sought to determine the safety, feasibility and prognostic value of pharmacological stress echocardiography performed in a primary care cardiology centre, populated by unselected patients evaluated with the aid of limited financial and technological resources. METHODS AND RESULTS:The study populat...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.1998.1096
更新日期:1998-11-01 00:00:00
abstract::Based on a study of 20 patients operated on between the ages of 21 and 38 for congenital valvular aortic stenosis, the distinguishing features of congenital aortic valvular stenosis in adults are reviewed: valvular calcification (75%), valvular dome rarely present (10%), usually moderate cardiac disability (70%), dimi...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/9.suppl_e.37
更新日期:1988-04-01 00:00:00
abstract::The efficacies and safety of nicorandil, 20 mg b.d., and diltiazem, 60 mg t.d., in the treatment of stable angina pectoris were compared in a double-blind randomized parallel group study involving 123 patients. The duration of the study was 3 months. Exercise tolerance tests were performed by the patients when on plac...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/14.suppl_b.30
更新日期:1993-07-01 00:00:00
abstract:AIMS:Coronary artery calcium (CAC) scoring has emerged as a tool for risk stratification and potentially for monitoring response to risk factor modification. Therefore, repeat measurements should provide robust results and low inter-scanner variability for allowing meaningful comparison. The purpose of this study was t...
journal_title:European heart journal
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurheartj/ehr157
更新日期:2011-08-01 00:00:00
abstract:AIMS:Although inflammation contributes to cardiovascular disease, the associations of appendectomy and tonsillectomy, which remove mucosa-associated lymphoid tissue, with risk of acute myocardial infarction (AMI) are unknown. Our aim was to assess the association between these operations performed in childhood and AMI ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehr137
更新日期:2011-09-01 00:00:00
abstract:AIM:Cardiosphere-derived cells (CDCs) produce regenerative effects in the post-infarct setting. However, it is unclear whether CDCs are beneficial in non-ischaemic dilated cardiomyopathy (DCM). We tested the effects of CDC transplantation in mice with cardiac-specific Gαq overexpression, which predictably develop progr...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehu196
更新日期:2015-03-21 00:00:00
abstract::In a 2-D model of anisotropy, created by freezing the intramural and endocardial layers of a Langendorf perfused rabbit heart, sustained ventricular tachycardia (VT) with a cycle length of 130 ms and an excitable gap of 30 ms could be initiated by rapid pacing. High resolution mapping (256 points) of the thin survivin...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/10.suppl_e.2
更新日期:1989-09-01 00:00:00
abstract::In a prospective trial in 124 patients with acute myocardial infarction, Holter and surface ECG recordings were obtained simultaneously and compared for their ability to assess thrombolysis-induced ST segment changes. Accuracy in predicting patency of the infarct-related artery was evaluated in both methods. Success o...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060114
更新日期:1992-12-01 00:00:00
abstract::In a 58-year-old man with vasospastic angina, we investigated the relationship between the antianginal effects of isosorbide dinitrate (ISDN) and plasma ISDN concentration. Despite adequate plasma ISDN levels, sustained therapy using ISDN tapes and oral ISDN (transcutaneously 160 mg and orally 100 mg ISDN day-1) faile...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060270
更新日期:1992-06-01 00:00:00
abstract:AIMS:To examine the extent of platelet inhibition by prasugrel vs. clopidogrel in a TRITON-TIMI 38 substudy. METHODS AND RESULTS:TRITON-TIMI 38 randomized acute coronary syndrome (ACS) patients undergoing percutaneous coronary intervention (PCI) to prasugrel or standard dose clopidogrel. Selected sites prospectively e...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehp159
更新日期:2009-07-01 00:00:00
abstract::After single chamber atrial pacemaker implantation, serial electrophysiologic studies were performed noninvasively at intervals of 3 months over a total period of 3 years in 24 patients with symptomatic sinus node dysfunction. All patients underwent invasive electrophysiologic studies before pacemaker implantation and...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061719
更新日期:1984-08-01 00:00:00
abstract::Sudden cardiac death (SCD) accounts for approximately one-third of all deaths among patients with non-ischaemic cardiomyopathy (NICM). Implantable cardioverter-defibrillator (ICD) therapy has been the primary intervention for managing individuals at high risk for SCD. However, individual ICD trials in the NICM populat...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/ehy344
更新日期:2018-08-14 00:00:00
abstract:AIMS:To compare effects of heparin and hirudin on biochemical markers of coagulation. METHODS AND RESULTS:Patients (n=395) with unstable angina or myocardial infarction without ST elevation were randomized to a 72-h infusion of one of three regimens: unfractionated heparin (bolus of 5000 IU followed by an infusion of ...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1053/euhj.1999.2005
更新日期:2000-09-01 00:00:00
abstract:AIMS:Cardiac hypertrophy is a common and often lethal complication of arterial hypertension. Elevation of myocyte cyclic GMP levels by local actions of endogenous atrial natriuretic peptide (ANP) and C-type natriuretic peptide (CNP) or by pharmacological inhibition of phosphodiesterase-5 was shown to counter-regulate p...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehr445
更新日期:2013-04-01 00:00:00
abstract::It is only in the last few years that the broad-spectrum antiarrhythmic properties of sotalol have become increasingly recognized. Racemic sotalol has potent beta-blocking and class III antiarrhythmic properties, and it has been reported that this drug is able to control supraventricular and ventricular arrhythmias. R...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/14.suppl_h.74
更新日期:1993-11-01 00:00:00
abstract:AIMS:Patients with myocardial infarction (MI) presenting immediately after symptom onset may be treated less aggressively due to their non-elevated troponin status. We compared the initial treatment and clinical outcomes of patients presenting with evolving MI (EMI) with those presenting with MI. METHODS AND RESULTS:T...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehm016
更新日期:2007-05-01 00:00:00
abstract:Aims:To determine tolerability and the optimal dose regimen of the soluble guanylate cyclase stimulator vericiguat in patients with chronic heart failure and preserved ejection fraction (HFpEF). Methods and results:SOCRATES-PRESERVED was a prospective, randomized, placebo-controlled double-blind, Phase 2b dose-finding...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehw593
更新日期:2017-04-14 00:00:00