Abstract:
OBJECTIVES:We took advantage of the genetic isolate of Finns to characterize a common long QT syndrome (LQTS) mutation, and to estimate the prevalence of LQTS. BACKGROUND:The LQTS is caused by mutations in different ion channel genes, which vary in their molecular nature from family to family. METHODS:The potassium channel gene KCNQ1 was sequenced in two unrelated Finnish patients with Jervell and Lange-Nielsen syndrome (JLNS), followed by genotyping of 114 LQTS probands and their available family members. The functional properties of the mutation were studied using a whole-cell patch-damp technique. RESULTS:We identified a novel missense mutation (G589D or KCNQ1-Fin) in the C-terminus of the KCNQ1 subunit. The voltage threshold of activation for the KCNQ1-Fin channel was markedly increased compared to the wild-type channel. This mutation was present in homozygous form in two siblings with JLNS, and in heterozygous form in 34 of 114 probands with Romano-Ward syndrome (RWS) and 282 family members. The mean (+/- SD) rate-corrected QT intervals of the heterozygous subjects (n = 316) and noncarriers (n = 423) were 460 +/- 40 ms and 410 +/- 20 ms (p < 0.001), respectively. CONCLUSIONS:A single missense mutation of the KCNQ1 gene accounts for 30% of Finnish cases with LQTS, and it may be associated with both the RWS and JLNS phenotypes of the syndrome. The relative enrichment of this mutation most likely represents a founder gene effect. These circumstances provide an excellent opportunity to examine how genetic and nongenetic factors modify the LQTS phenotype.
journal_name
J Am Coll Cardioljournal_title
Journal of the American College of Cardiologyauthors
Piippo K,Swan H,Pasternack M,Chapman H,Paavonen K,Viitasalo M,Toivonen L,Kontula Kdoi
10.1016/s0735-1097(00)01124-4subject
Has Abstractpub_date
2001-02-01 00:00:00pages
562-8issue
2eissn
0735-1097issn
1558-3597pii
S0735-1097(00)01124-4journal_volume
37pub_type
杂志文章abstract:OBJECTIVE:The objective of this study is to evaluate the one-year outcome of the first 50 patients who underwent nonsurgical septal reduction for symptomatic hypertrophic obstructive cardiomyopathy at our institution. BACKGROUND:Left ventricular outflow tract obstruction is an important determinant of clinical symptom...
journal_title:Journal of the American College of Cardiology
pub_type: 临床试验,杂志文章
doi:10.1016/s0735-1097(00)00767-1
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVES:The purpose of this study was to objectively quantify the similarity of 12-lead electrocardiogram (ECG) waveforms using two quantitative metrics, the correlation coefficient (CORR) and the mean absolute deviation (MAD). BACKGROUND:Comparison of the 12-lead ECG morphology between ventricular tachycardia (VT)...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(03)00427-3
更新日期:2003-06-04 00:00:00
abstract:OBJECTIVES:The purpose of this study was to investigate the appropriateness of stenting a functionally nonsignificant stenosis. BACKGROUND:Percutaneous coronary intervention (PCI) of an intermediate stenosis without evidence of ischemia is often performed, but its benefit is unproven. Coronary pressure-derived fractio...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.jacc.2007.01.087
更新日期:2007-05-29 00:00:00
abstract:OBJECTIVES:We performed a meta-analysis of randomized trials that enrolled ST-segment elevation myocardial infarction patients treated with fibrinolysis to assess the potential benefits of: 1) rescue percutaneous coronary intervention (PCI) versus no PCI; 2) systematic and early (< or =24 h) PCI versus delayed or ische...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章,meta分析
doi:10.1016/j.jacc.2006.03.064
更新日期:2006-10-03 00:00:00
abstract:BACKGROUND:The adult mammalian heart is incapable of meaningful regeneration after substantial cardiomyocyte loss, primarily due to the inability of adult cardiomyocytes to divide. Our group recently showed that mitochondria-mediated oxidative DNA damage is an important regulator of postnatal cardiomyocyte cell cycle a...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2014.12.027
更新日期:2015-03-10 00:00:00
abstract:OBJECTIVES:We sought to determine whether patients receiving chronic clopidogrel therapy undergoing nonemergent stenting who display high on-treatment preprocedural platelet aggregation measured by standard light transmittance aggregometry and thrombelastography (TEG) will be at increased risk for poststenting ischemic...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2006.10.050
更新日期:2007-02-13 00:00:00
abstract:OBJECTIVES:Our primary objective was to compare the effects of three different doses of candoxatrilat with the effects of placebo on urinary volume in patients with moderately severe heart failure. The effects of candoxatrilat on urinary composition, neuroendocrine indexes and renal hemodynamic function were also studi...
journal_title:Journal of the American College of Cardiology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/0735-1097(94)00561-4
更新日期:1995-05-01 00:00:00
abstract::Signal-averaged electrocardiograms (ECGs) and programmed ventricular stimulation were serially performed in 12 dogs (3 weeks of age) after experimental anteroapical myocardial infarction. At electrophysiologic study, sustained ventricular tachyarrhythmia was induced in seven dogs on at least one occasion. Of a total o...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(10)80027-0
更新日期:1990-05-01 00:00:00
abstract:OBJECTIVES:This study sought to determine whether hyperoxemic reperfusion with aqueous oxygen (AO) improves recovery of ventricular function after percutaneous coronary intervention (PCI) for acute myocardial infarction (AMI). BACKGROUND:Hyperbaric oxygen reduces myocardial injury and improves ventricular function whe...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.jacc.2007.01.099
更新日期:2007-07-31 00:00:00
abstract::There is a close interrelationship between atrial fibrillation (AF) and atrial flutter (AFL). Atrial fibrillation of variable duration precedes the onset of AFL in almost all instances; during AF, the functional components needed to complete the AFL re-entrant circuit, principally a line of block (LoB) between the ven...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jacc.2007.08.066
更新日期:2008-02-26 00:00:00
abstract::Inadvertent puncture of the intrapericardial aorta is a serious complication of transseptal catheterization. Two-dimensional echocardiography allows delineation and spatial resolution of the aorta and interatrial septum. Thirteen patients underwent transseptal catheterization with simultaneous monitoring of needle and...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(84)80234-x
更新日期:1984-08-01 00:00:00
abstract:BACKGROUND:Patients with high stroke risk and atrial fibrillation who are unsuitable to oral anticoagulants (OACs) require other stroke prevention strategies. A novel permanent coil filter directly placed into both common carotid arteries (CCAs) was designed to capture emboli >1.4 mm in diameter. OBJECTIVES:The multic...
journal_title:Journal of the American College of Cardiology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1016/j.jacc.2019.04.035
更新日期:2019-08-20 00:00:00
abstract::The Bio 14.6 Syrian hamster provides a good model for experimental study of cardiomyopathy. Cardiac receptor binding sites (alpha-1-, beta- and calcium antagonists) were studied in early (21 days old) and late (70 days old) stages of cardiomyopathy. The effects of verapamil on histologic features and free radicals in ...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(87)80356-x
更新日期:1987-11-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to determine the impact of delay to angioplasty in patients with acute coronary syndromes (ACS). BACKGROUND:There is a paucity of data on the impact of delays to percutaneous coronary intervention (PCI) in patients with non-ST-segment elevation acute coronary syndromes (NSTE-ACS) u...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2009.11.063
更新日期:2010-04-06 00:00:00
abstract:OBJECTIVES:This study was conducted to assess the relations among intracoronary ultrasound, angiographic and histologic data obtained from patients with coronary artery disease successfully treated by directional coronary atherectomy. In addition, it was designed to elucidate whether some aspects of intravascular ultra...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/0735-1097(93)90667-p
更新日期:1993-02-01 00:00:00
abstract:OBJECTIVES:This study was designed to test the feasibility of high-resolution phased-array intracardiac imaging. BACKGROUND:Intracardiac echocardiographic imaging of the heart during interventional electrophysiologic (EP) procedures has been limited by inadequate ultrasound penetration and absence of Doppler hemodynam...
journal_title:Journal of the American College of Cardiology
pub_type: 临床试验,杂志文章
doi:10.1016/s0735-1097(01)01764-8
更新日期:2002-02-06 00:00:00
abstract::The relation between coronary patency after infusion of recombinant tissue-type plasminogen activator (rt-PA) and clinical and laboratory findings was assessed in patients with acute myocardial infarction. This study focused primarily on information available early in the hospitalization phase. Data were available for...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/0735-1097(88)90196-9
更新日期:1988-04-01 00:00:00
abstract::A technique was developed for the simultaneous recording of 30 endocardial electrograms during cardiac surgery in patients undergoing aneurysmectomy or endocardial resection, or both, for medically intractable ventricular tachycardia. An inflatable balloon covered with 30 terminals at distances of 1.5 to 2 cm was used...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(83)80244-7
更新日期:1983-11-01 00:00:00
abstract::The antiarrhythmic effects of verapamil, 17-monochloracetylajmaline, mexiletine and amiodarone were compared in 14 patients with chagasic myocarditis. Drugs and placebo were administered orally in the following order: placebo and verapamil, placebo and 17-monochloracetylajmaline, placebo and mexiletine (1 week each) a...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(86)80232-7
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVES:We evaluated metallothionein (MT)-mediated cardioprotection from angiotensin II (Ang II)-induced pathologic remodeling with and without underlying diabetes. BACKGROUND:Cardiac-specific metallothionein-overexpressing transgenic (MT-TG) mice are resistant to diabetic cardiomyopathy largely because of the anti...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2008.05.019
更新日期:2008-08-19 00:00:00
abstract:OBJECTIVES:The purpose of this study was to evaluate the prognostic value of community-based myocardial perfusion imaging (MPI) and to assess the incremental value of individual components of (99m)Tc-sestamibi single photon emission computed tomography (SPECT). BACKGROUND:Although the most rapid growth of MPI has been...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2003.07.041
更新日期:2004-01-21 00:00:00
abstract::The value of heart rate variability, ambulatory electrocardiographic (ECG) variables and the signal-averaged ECG in the prediction of arrhythmic events (sudden death or life-threatening ventricular arrhythmias) was assessed before hospital discharge in 416 consecutive survivors of acute myocardial infarction. During t...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/0735-1097(91)90791-7
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:His bundle pacing is a new method for delivering cardiac resynchronization therapy (CRT). OBJECTIVES:The authors performed a head-to-head, high-precision, acute crossover comparison between His bundle pacing and conventional biventricular CRT, measuring effects on ventricular activation and acute hemodynami...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2018.09.073
更新日期:2018-12-18 00:00:00
abstract:OBJECTIVES:This study sought to determine whether pravastatin affects clinical or angiographic restenosis after coronary balloon angioplasty. BACKGROUND:Experimental data and preliminary clinical studies suggest that lipid-lowering drugs might have a beneficial effect on restenosis after coronary angioplasty. METHODS...
journal_title:Journal of the American College of Cardiology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0735-1097(97)00259-3
更新日期:1997-10-01 00:00:00
abstract::Although the use of oral anticoagulants (vitamin K antagonists) has been abandoned in primary cardiovascular prevention due to lack of a favorable benefit-to-risk ratio, the indications for aspirin use in this setting continue to be a source of major debate, with major international guidelines providing conflicting re...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jacc.2014.03.049
更新日期:2014-07-22 00:00:00
abstract::Methysergide ( Sansert ) has been associated with numerous fibrotic disorders. In particular, multiple cardiac lesions have been described in cases where methysergide was thought to have played a causative role. A patient is described who presented with cardiac findings suggestive of acute myopericarditis . An inflamm...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(84)80342-3
更新日期:1984-07-01 00:00:00
abstract::Among 3,548 patients undergoing a percutaneous transluminal coronary angioplasty procedure, 714 had multilesion angioplasty (1,550 lesions) in a single session. Acute occlusion occurred in 22 patients (3.1%) and 29 lesions (1.9%). The patients were classified into a group undergoing multivessel angioplasty (348 patien...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/0735-1097(89)90499-3
更新日期:1989-02-01 00:00:00
abstract:BACKGROUND:MicroRNA (miR) dysregulation in the myocardium has been implicated in cardiac remodeling after injury or stress. OBJECTIVES:The aim of this study was to explore the role of miR in human CD34(+) cell (hCD34(+)) dysfunction in vivo after transplantation into the myocardium under ischemia-reperfusion (I-R) con...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/j.jacc.2015.09.009
更新日期:2015-11-17 00:00:00
abstract::Twenty-four hour ambulatory electrocardiographic tape recordings of 30 patients (16 men and 14 women, mean age 42 +/- 17 years) with repetitive monomorphic idiopathic ventricular tachycardia were analyzed using a new computerized system designed to study 15 RR cycles and mean heart rate of the 3 minutes preceding any ...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(86)80139-5
更新日期:1986-06-01 00:00:00
abstract:OBJECTIVES:This study evaluated the response to prostacyclin dose reduction in patients with primary pulmonary hypertension (PPH) who developed high cardiac outputs. BACKGROUND:Patients on prostacyclin require chronic upward dose titration to overcome tolerance to the medication. No upper limit of effective dose has b...
journal_title:Journal of the American College of Cardiology
pub_type: 杂志文章
doi:10.1016/s0735-1097(99)00320-4
更新日期:1999-10-01 00:00:00