Abstract:
BACKGROUND:Missense mutations in KCNH2, a gene encoding the Kv11.1 channel, cause long QT syndrome (LQTS) type 2 primarily by disrupting the intracellular transport of Kv11.1 to the plasma membrane. The present study aimed to clarify the functional changes by two novel KCNH2 missense mutations. METHODS:We performed genetic screening of three unrelated symptomatic LQTS probands with family histories of cardiac symptoms. Chinese hamster ovary cells were transfected with wild-type (WT) and/or mutant KCNH2 plasmid and examined by patch-clamp technique. Immunostaining and confocal microscopy were performed to evaluate the intracellular localization of WT and homozygous mutant Kv11.1 in human embryonic kidney cells. For the study of trafficking rescue, we used low-temperature incubation (30°C). We also examined pharmacological rescue of homozygous mutant Kv11.1 current in cells treated with E-4031 or dofetilide. RESULTS:We identified two novel KCNH2 missense mutations, G785D and T826I. Electrophysiological study showed that both mutant channels were nonfunctional in homozygous condition and reduced current densities by half in heterozygous condition compared with WT Kv11.1. Heterozygous Kv11.1-G785D produced a significant positive shift in activation and a significant negative shift in inactivation, whereas heterozygous Kv11.1-T826I caused no kinetic changes. Immunostaining revealed that both were transport-refractory mutations. Incubation at 30°C rescued plasma membrane expression of Kv11.1-T826I but not G785D. We confirmed low-temperature-induced restoration of homozygous Kv11.1-T826I transport by functional current measurements. In contrast, incubation with E-4031 or dofetilide failed to produce measurable currents in both homozygous mutant channels. CONCLUSIONS:Two novel KCNH2 mutations disrupted the intracellular transport of Kv11.1. Low-temperature incubation rescued plasma membrane expression of Kv11.1-T826I but not G785D. Both mutations exerted loss-of-function effects on Kv11.1 and explained the phenotypes of the mutation carriers.
journal_name
J Cardioljournal_title
Journal of cardiologyauthors
Fukumoto D,Ding WG,Wada Y,Fujii Y,Ichikawa M,Takayama K,Fukuyama M,Kato K,Itoh H,Makiyama T,Omatsu-Kanbe M,Matsuura H,Horie M,Ohno Sdoi
10.1016/j.jjcc.2017.10.004subject
Has Abstractpub_date
2018-04-01 00:00:00pages
401-408issue
4eissn
0914-5087issn
1876-4738pii
S0914-5087(17)30273-3journal_volume
71pub_type
杂志文章abstract:BACKGROUND:There has been no study elucidating whether cognitive impairment (CI) can provide additive prognostic information besides that provided by preexisting prognostic factors in elderly patients with heart failure. This study examined whether CI can provide additive prognostic information in elderly patients with...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.06.016
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:Few data exist to evaluate the safety and efficacy of direct oral anticoagulants (DOACs) in patients with atrial fibrillation (AF) undergoing cryoballoon ablation (CB-A). This study is aimed to clarify the usefulness of DOACs in patients undergoing CB-A. METHODS:The patients (average age; 65.8±11.9 years old...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2016.04.009
更新日期:2017-01-01 00:00:00
abstract:BACKGROUND:Malondialdehyde-modified low-density lipoprotein (MDA-LDL) is a predictive marker of cardiovascular events in patients with stable angina pectoris. However, little is known about this marker in patients with acute coronary syndrome (ACS). We investigated the prognostic relevance of MDA-LDL to cardiovascular ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.02.012
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:Arterial hypertension is an established risk factor for acute coronary syndrome (ACS). Multidetector computed tomography (MDCT) is an accurate and less invasive technique for assessment of the degree of coronary artery luminal narrowing and characterization of coronary atherosclerosis. We therefore aimed to ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2011.11.010
更新日期:2012-03-01 00:00:00
abstract::A Genesis stent was implanted in two children, one with superior vena caval (SVC) stenosis and one with pulmonary artery branch stenosis. Case 1 was a 2-month-old baby with SVC stenosis following intracardiac repair for total anomalous pulmonary venous connection (TAPVC) and case 2 was a 2-year-old child with left low...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2008.06.002
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:17 beta-estradiol reduces myocardial infarct size which is mediated by nitric oxide (NO) and the opening of Ca (2+)-activated K+ (KCa) channels. Raloxifene, a selective estrogen receptor modulator, demonstrates acute coronary artery vasorelaxing effects. Whether raloxifene reduces ischemia/reperfusion injury...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2002-01-01 00:00:00
abstract:BACKGROUND:Third-generation drug-eluting-stents (3rd DES) may improve coronary arterial healing and reduce neoatherosclerosis formation. We evaluated post-stent findings and subsequent vascular healing of 3rd DES by comparing to second-generation drug-eluting-stents (2nd DES) at intermediate-term follow-up using optica...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.05.013
更新日期:2020-11-01 00:00:00
abstract:BACKGROUND:Previous studies demonstrated that the incidence of atrial fibrillation (AF) was significantly increased when patients aged ≥40 years had surgical atrial septal defect (ASD) closure (sASD). However, limited information is available on such findings in transcatheter ASD closure (tASD). The purpose of this stu...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.01.008
更新日期:2020-07-01 00:00:00
abstract:OBJECTIVES:This study evaluated the long-term outcomes of successfully implanted S670 and NIR stents. METHODS:Stents were successfully implanted in 143 patients (148 lesions) aged 65 +/- 9 years from January 1999 to April 2001. Sixty-eight lesions were treated with S670 stents and 80 with NIR stents. Quantitative coro...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2002-05-01 00:00:00
abstract:BACKGROUND:Anticoagulant therapy is used for preventing cerebral infarction in patients with non-valvular atrial fibrillation (NVAF). However, in clinical practice, many patients with NVAF are not prescribed oral anticoagulants (OACs). In this study, we retrospectively investigated the prescription status of OACs at th...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.11.002
更新日期:2020-05-01 00:00:00
abstract::Sustained left ventricular systolic dysfunction after transient myocardial ischemia is well known as "myocardial stunning", but little is known about the recovery in left ventricular diastolic function. Changes in left ventricular systolic and diastolic performance following dobutamine-induced ischemia were investigat...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1997-12-01 00:00:00
abstract:BACKGROUND:Left atrial (LA) enlargement has been documented to occur in hypertension (HT), and has been an index for evaluating the diastolic function of the left ventricle. Enlargement of the LA is one of the vital factors that induce heart failure and atrial fibrillation (AF) in patients with HT. METHODS AND SUBJECT...
journal_title:Journal of cardiology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jjcc.2012.02.011
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:There have been no reviews regarding intravascular ultrasound (IVUS) catheter entrapment during percutaneous coronary intervention (PCI). This study investigated the incidence, retrieval methods, and outcomes of IVUS catheter stuck within implanted stents. METHODS:Between January 2015 and July 2018, a total...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.07.005
更新日期:2020-02-01 00:00:00
abstract::Patients with myocardial infarction (MI) and triple vessel coronary disease generally have poor prognoses. However, it is not known whether there are particular angiographic variables associated with the poor prognosis in MI patients with triple vessel disease. The angiographic variables for poor prognosis were invest...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1995-11-01 00:00:00
abstract::There have been several case reports, a total of 22 up to the present, of toxoplasma pericarditis. Out of them, in only a few cases the diagnosis was properly made with a proof of the microscopic presence of Toxoplasma gondii. This is the first report of toxoplasma pericarditis in which the presence of Toxoplasma gond...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:
更新日期:2000-01-01 00:00:00
abstract::It has been nine years since intravascular ultrasound imaging(IVUS) was for the first time performed in Japan at our hospital. During this period, the progress of catheter technology brought about many improvements in catheter design and image quality. Also clinical utility of IVUS has been widely recognized with accu...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:
更新日期:2000-03-01 00:00:00
abstract:OBJECTIVES:This study assessed the relationship between coronary flow reserve and functional recovery of left ventricular wall motion in patients with tako-tsubo-like transient left ventricular dysfunction. METHODS:Coronary flow reserve was measured using the Doppler guide wire technique in the left descending coronar...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2004-03-01 00:00:00
abstract::Both coronary perforation and aneurysms associated with sirolimus-eluting stent (SES) implantations are uncommon complications. We describe an unusual case of a coronary aneurysm associated with a coronary perforation after SES implantation. Although their pathogenesis has not yet been completely elucidated, some tech...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2008.09.013
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND:The optimal treatment strategies for acute ST-elevation myocardial infarction (STEMI) in older patients are unclear because of the high risk of mortality in this population. Hypoalbuminemia, frailty, and body mass index (BMI) have been reported to worsen the prognosis of some older patients with cardiovascul...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2014.12.001
更新日期:2015-09-01 00:00:00
abstract::To ascertain the optimal time for surgery in chronic aortic regurgitation (AR), 66 patients with and without surgical correction were reviewed from the standpoint of left ventricular (LV) function based on their serial echocardiographic studies. Aggravation of the clinical status was usually associated with enlarged L...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1987-09-01 00:00:00
abstract:BACKGROUND:Optical coherence tomography (OCT) requires intracoronary injection of contrast media to remove blood from the field of view during image acquisition. Contrast injection may cause a temporal increase in intracoronary pressure. The aim of this study was to compare the intracoronary pressure during contrast in...
journal_title:Journal of cardiology
pub_type: 临床试验,杂志文章
doi:10.1016/j.jjcc.2019.08.008
更新日期:2020-03-01 00:00:00
abstract::To clarify the effects of mitral obstruction on left ventricular (LV) diastolic blood filling, 15 patients with tight mitral stenosis (each mitral valve area was less than 1.5 cm2) were studied. Each selected patient underwent successful percutaneous transluminal mitral commissurotomy (PTMC), which resulted in a 1.5 f...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract::Inherited primary arrhythmia syndromes (IPAS) may result in ventricular tachycardia or ventricular fibrillation by some genetic disorders, leading to sudden cardiac death. IPAS are also called "channelopathies" since many of these are caused by an abnormality in myocardial ion channels. Congenital long-QT syndrome (LQ...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jjcc.2019.01.009
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Inflammation and oxidative stress play a role in the pathophysiology of chronic heart failure (CHF). Our previous clinical trial, the Bisoprolol Improvement Group for Chronic Heart Failure Treatment Study in Dokkyo Medical University (BRIGHT-D), reported that bisoprolol is superior to carvedilol for myocardi...
journal_title:Journal of cardiology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jjcc.2019.07.011
更新日期:2020-02-01 00:00:00
abstract::A long-term follow-up study was performed for 110 patients with idiopathic dilated cardiomyopathy (DCM) for 34 +/- 12 months (range 3-122 months). Thirteen patients died of heart failure, 15 of sudden death and one of non-cardiac death. The 3- and 5-year survival rates were 78 and 62%, respectively. The important fact...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:In Kawasaki disease (KD), it has been clinically and experimentally reported that post-inflammatory vascular remodeling would induce the development of arteriosclerosis or early onset of atherosclerosis in the future. The effects of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors on cont...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2010.06.006
更新日期:2010-09-01 00:00:00
abstract:BACKGROUND:Beta-blockers are used to control the heart rate prior to coronary computed tomography (CT) angiography. However, in-hospital administration is time-consuming, and it is hard to decrease the heart rate to <60 beats per minute (bpm) when the initial heart rate is increased. In this study, we examined whether ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2014.07.007
更新日期:2015-04-01 00:00:00
abstract::No heart transplants have been performed in Japan due to various obstacles since the only operation performed in 1968. Since 1981, a number of patients requiring heart transplants have been accepted by foreign transplantation centers in England, the U.S.A., and Germany. This report describes an investigation of the po...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1996-01-01 00:00:00
abstract:BACKGROUND:Heart failure (HF) is a risk factor for adverse post-procedural outcome after revascularization; however, it is unclear how left ventricular systolic dysfunction (LVSD) and clinical HF symptoms affect percutaneous coronary intervention (PCI) outcomes. We investigated the characteristics and long-term outcome...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.06.014
更新日期:2021-01-01 00:00:00
abstract::A 71-year old woman with schizophrenia was admitted to our hospital on November 26, 2002 under a diagnosis of acute myocardial infarction because of ST segment elevation in leads V2-V5 and positive serum cardiac troponin T level. Emergent coronary angiography showed no significant stenosis, but left ventriculography d...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2003-10-01 00:00:00