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 (LQTS) is the most well documented IPAS, which may be seen in 0.1% of the general population. More than 15 disease-causing genes have been identified in almost 70% of LQTS patients and genetic testing is well applied to not only clinical diagnosis but also risk stratification and gene-based therapeutic strategy for each person with LQTS. Thus, in LQTS, gene-based personalized medicine can be realized. Unlike the LQTS, genetic testing for the Brugada syndrome (BrS) is still controversial since only 20% of patients can be identified with the causing gene mutations, most of which are in SCN5A. Furthermore, even in the SCN5A mutation-positive carriers, their phenotypes are not completely consistent with BrS, but may cause other IPAS including LQTS, cardiac conduction defect, sick sinus syndrome, and dilated cardiomyopathy. On the other hand, a recent Japanese BrS registry demonstrated that the pore-region mutations in SCN5A are significantly associated with a risk of lethal cardiac events. Furthermore, a genome-wide association study revealed that a common variant in SCN10A or HEY2 in addition to SCN5A is associated with BrS, thus, BrS may not be a monogenic Mendelian disease but probably an oligogenic disease. The purpose of this review is to describe the basic genetic and pathophysiological findings of the IPAS, particularly LQTS and Brugada syndrome, and to outline a rational approach to genetic testing, management, and family screening.
journal_name
J Cardioljournal_title
Journal of cardiologyauthors
Aiba Tdoi
10.1016/j.jjcc.2019.01.009subject
Has Abstractpub_date
2019-05-01 00:00:00pages
335-342issue
5eissn
0914-5087issn
1876-4738pii
S0914-5087(19)30015-2journal_volume
73pub_type
杂志文章,评审abstract:OBJECTIVES:Nifekalant is a class III antiarrhythmic drug, which prolongs the refractory period of the atrial and ventricular myocardium, without negative inotropic action. Intravenous nifekalant was administered in four patients with atrial tachyarrhythmia and severe heart failure to terminate or prevent atrial tachyar...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2002-03-01 00:00:00
abstract:BACKGROUND:Due to the rarity of this condition, clinical treatment and outcomes in isolated superior mesenteric artery dissection (ISMAD) patients remain unknown. The primary aim of this retrospective multicenter study was to elucidate the treatment strategies and in-hospital outcomes for ISMAD patients by using admini...
journal_title:Journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jjcc.2017.08.006
更新日期:2018-02-01 00:00:00
abstract::A 44-year-old man was admitted to our hospital because of congestive heart failure. He had various symptoms caused by insulin-dependent diabetes mellitus, sensorineural deafness, Wolff-Parkinson-White syndrome and cardiomyopathy associated with mitochondrial DNA point mutation A3243G. Echocardiography had showed symme...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2003-01-01 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:The impairment of short-term heart rate regulation in patients with heart failure with preserved ejection fraction (HFpEF) can cause acute hemodynamic collapse. Detrended fluctuation analysis (DFA) is a useful tool for the diagnosis of heart diseases and the prediction of mortality. In DFA, the short-term sc...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2020.07.027
更新日期:2021-01-01 00:00:00
abstract::The significance of the early maximal negative T wave on electrocardiography was evaluated in 74 patients with initial acute anterior myocardial infarction (MI) admitted within 6 hours of onset. The relationship between the negative T wave and the severity of MI, as assessed by MI size and left ventricular dysfunction...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:The outcome of percutaneous coronary intervention (PCI) has been reported to be poor in hemodialysis (HD) patients even in the drug-eluting stent era. We have reported relatively poor outcomes after sirolimus-eluting stent implantation in the OUCH study. METHODS:The OUCH-TL study is a prospective, non-rando...
journal_title:Journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.jjcc.2015.03.008
更新日期:2015-12-01 00:00:00
abstract::The precipitating factors of repetitive exacerbation were investigated in 110 consecutive patients with chronic left heart failure admitted due to acute exacerbation more than twice to the medical emergency ward of National Cardiovascular Center from January, 1992 to December, 1996. The controls were 189 consecutive p...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1998-04-01 00:00:00
abstract::This study qualified the severity and localization of reverse redistribution of technetium-99 m (Tc)-tetrofosmin rest imaging. Both Tc-tetrofosmin and thallium-201 (Tl) rest imaging with early images and delayed images were obtained in the subacute phase of myocardial infarction in 21 patients with first anterior myoc...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1999-07-01 00:00:00
abstract::We report the case with type A acute aortic dissection that vascular echo disclosed a free-floating thrombus in the right common carotid artery. ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2008.11.013
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:Cardiac rehabilitation (CR) has numerous beneficial effects, including the modification of coronary risk factors and improvement of the prognosis, in patients with coronary artery disease (CAD). Limited data are available regarding the effects of CR on the physical status and risk factors in patients with me...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2009.01.004
更新日期:2009-06-01 00:00:00
abstract::To assess the relative importance of the anatomical characteristics of the coronary artery distribution and the sites of the arterial stenoses in relation to infarct size, 21 patients with old myocardial infarction and angiographically-proven 90% or greater stenoses (AHA classification) of one of the major coronary ar...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1988-03-01 00:00:00
abstract:PURPOSE:Cholinergic nerve plays an important role in the induction and maintenance of atrial fibrillation (AF). Cholinergic innervation at supraventricular tissues is considered to be the histological basis and intervention-associated target site for the arrhythmia; however, the distribution of cholinergic nerve in sup...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2012.12.003
更新日期:2013-03-01 00:00:00
abstract:OBJECTIVES:The short-term and long-term predictors of outcome after coronary angioplasty in the unprotected left main coronary artery were investigated. METHODS:The procedure was performed in 122 consecutive patients for de novo lesions without myocardial infarction in our hospital between April 1986 and October 1998,...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVES:The relationship between the efficacy of the anticholinergic action of disopyramide, cibenzoline and aprindine and age was examined in patients with paroxysmal and persistent atrial fibrillation. METHODS:This prospective, randomized study included 278 patients (200 men, 78 women, mean age 61 +/- 11 years) d...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2003-04-01 00:00:00
abstract::This is a report of 3 cases of cardiac sarcoidosis. None of the 3 patients had other overt systemic involvement. Multinucleated giant cells and non-caseating epithelial cell granulomas with small lymphocytic infiltrations were detected in the endomyocardial biopsy specimen. Some focal left ventricular wall motion abno...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract:OBJECTIVES:Few intravenous myocardial contrast echocardiography trials have evaluated myocardial perfusion in small animals. The feasibility of using intravenous myocardial contrast echocardiography to assess the ischemic area in rats was investigated. METHODS:Fourteen open chest Wister male rats were examined. Intrav...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00
abstract:BACKGROUND:There is little information about the relationship between J waves and the occurrence of ventricular fibrillation (VF) in patients with vasospastic angina (VSA). The present study aimed to assess the incidence of J waves and the occurrence of VF in patients with VSA. METHODS:The subjects consisted of 62 pat...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2016.12.003
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND:The relation between systolic blood pressure (sBP) on admission and the extent of fluid re-distribution in patients with acute heart failure (AHF) remains unclear. This study aimed to investigate this relation. METHODS:We enrolled consecutive patients who were admitted for AHF in our cardiology department a...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.03.003
更新日期:2019-09-01 00:00:00
abstract::The results of aorto-coronary bypass surgery in 28 children with coronary artery lesions due to Kawasaki disease were evaluated. Ages at surgery ranged from one to 17 years, and the intervals from disease onset to surgery ranged from 2 months to 16.8 years. All patients were followed by selective coronary arteriograph...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1991-01-01 00:00:00
abstract:BACKGROUND:Catheter ablation has become a standard treatment strategy for drug-resistant symptomatic non-valvular atrial fibrillation (NVAF). Periprocedural administration of uninterrupted warfarin could reduce the risk of thromboembolic complications. However, only a few retrospective studies have reported on the effi...
journal_title:Journal of cardiology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.jjcc.2015.10.003
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Chronic renal disease (CKD) is a determinant of coronary artery calcification (CAC), which is a predictor of cardiovascular events. However, in a population without CKD, the association between CAC and renal function is unclear. CAC is affected by sex. This study aimed to determine whether serum cystatin C, ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2017.05.001
更新日期:2017-12-01 00:00:00
abstract:OBJECTIVE:The purpose of this study was to identify a cut-off value to predict the resolution of incomplete-stent-apposition (ISA) after cobalt-chromium everolimus-eluting stent (CoCr-EES) implantation at early follow-up. BACKGROUND:To date, appropriate stent apposition at the acute period using intracoronary imaging ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.12.006
更新日期:2020-06-01 00:00:00
abstract:OBJECTIVES:The standard deviation of the washout rate in dipyridamole stress thallium-201 myocardial single photon emission computed tomography (SPECT) was correlated with the severity of coronary artery lesions and the viability of ischemic myocardium to provide a new quantitative parameter for judging indications for...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::Left ventricular function was evaluated using parameters derived from the flow velocity waveforms at the ascending aorta as obtained at the suprasternal notch by continuous-wave Doppler echocardiography in 39 patients; 12 with chest pain but without coronary stenosis, eight with angina pectoris; and 19 with myocardial...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1990-01-01 00:00:00
abstract::The effects of percutaneous transvenous mitral commissurotomy (PTMC) and open mitral commissurotomy (OMC) were evaluated in 18 patients who underwent PTMC and 16 patients who underwent OMC, before and within one month of the procedure, using two-dimensional and color Doppler echocardiography. There was no significant ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00
abstract:BACKGROUND:Although the occurrence of no-reflow during percutaneous coronary intervention (PCI) has been shown to be associated with worse short- and long-term clinical outcomes, the clinical relevance of preventing flow deterioration by using the filter-based distal protection devices (DPDs) is controversial. We inves...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2015.06.015
更新日期:2016-05-01 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::Chronic total occlusion (CTO) is a challenging subset of coronary artery disease that is commonly encountered in real-world practice; it is associated with worse long-term prognosis. Observational studies suggest that percutaneous coronary intervention (PCI) for CTO is associated with reduction in myocardial ischemia ...
journal_title:Journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.jjcc.2016.12.006
更新日期:2017-06-01 00:00:00
abstract:BACKGROUND:Along with the global aging, the number of geriatric patients with acute myocardial infarction (AMI) has been increasing. However, temporal trends in the prevalence and outcomes of geriatric patients with AMI, with a special reference to heart failure (HF) on admission, remain to be elucidated. METHODS:The ...
journal_title:Journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.jjcc.2019.10.006
更新日期:2020-05-01 00:00:00