当前位置： SCI文献检索 > Journal of Cardiology期刊下所有文献 > Recent understanding of clinical sequencing and gene-based risk stratification in inherited primary arrhythmia syndrome.

Recent understanding of clinical sequencing and gene-based risk stratification in inherited primary arrhythmia syndrome.

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 Cardiol

journal_title

Journal of cardiology

authors

Aiba T

doi

10.1016/j.jjcc.2019.01.009

subject

Has Abstract

pub_date

2019-05-01 00:00:00

pages

335-342

issue

5

eissn

0914-5087

issn

1876-4738

pii

S0914-5087(19)30015-2

journal_volume

73

pub_type

杂志文章,评审

相关文献

Journal of Cardiology文献大全
  • Antiarrhythmic effect of nifekalant on atrial tachyarrhythmia in four patients with severe heart failure.

    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：

    authors： Shiga T,Matsuda N,Fuda Y,Haruta S,Hagiwara N,Kasanuki H

    更新日期：2002-03-01 00:00:00

  • Real clinical management of patients with isolated superior mesenteric artery dissection in Japan.

    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

    authors： Mizuno A,Iguchi H,Sawada Y,Nomura H,Komiyama N,Watanabe S,Yoshikawa A

    更新日期：2018-02-01 00:00:00

  • [Cardiomyopathy showing progression from diffuse left ventricular hypertrophy to dilated phase associated with mitochondrial DNA point mutation A3243G: A case report].

    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：

    authors： Ohmoto N,Fujiwara Y,Kibira S,Kobayashi M,Saito T,Miura M

    更新日期：2003-01-01 00:00:00

  • Effects of HMG-CoA reductase inhibitors on continuous post-inflammatory vascular remodeling late after Kawasaki disease.

    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

    authors： Hamaoka A,Hamaoka K,Yahata T,Fujii M,Ozawa S,Toiyama K,Nishida M,Itoi T

    更新日期：2010-09-01 00:00:00

  • Detrended fluctuation analysis can detect the impairment of heart rate regulation in patients with heart failure with preserved ejection fraction.

    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

    authors： Mizobuchi A,Osawa K,Tanaka M,Yumoto A,Saito H,Fuke S

    更新日期：2021-01-01 00:00:00

  • [Significance of the early maximal negative T wave in acute anterior myocardial infarction].

    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：

    authors： Takigawa O,Kanemoto N,Handa S

    更新日期：1998-10-01 00:00:00

  • Clinical and angiographic outcomes of paclitaxel-eluting coronary stent implantation in hemodialysis patients: A prospective multicenter registry: The OUCH-TL study (outcome in hemodialysis of TAXUS Liberte).

    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

    authors： Kozuma K,Otsuka M,Ikari Y,Uehara Y,Yokoi H,Sano K,Tanabe K,Hibi K,Yamane M,Ishiwata S,Ohta H,Yamauchi Y,Suematsu N,Nakayama M,Inoue N,Kyono H,Suzuki N,Isshiki T

    更新日期：2015-12-01 00:00:00

  • [Precipitating factors in patients with repetitive exacerbation of chronic left heart failure].

    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：

    authors： Sasaki T,Yanagitani Y,Kubo T,Matsuo H,Miyatake K

    更新日期：1998-04-01 00:00:00

  • [Reverse redistribution of technetium-99m-tetrofosmin after acute coronary revascularization in patients with myocardial infarction].

    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：

    authors： Arii T,Naruse H,Sakaki T,Masai M,Takahashi K,Ohyanagi M,Iwasaki T,Fukuchi M

    更新日期：1999-07-01 00:00:00

  • Free-floating thrombus in the right common carotid artery.

    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

    authors： Taguchi E,Nishigami K,Kamio T,Honda T,Nakao K

    更新日期：2009-10-01 00:00:00

  • Effects of cardiac rehabilitation in patients with metabolic syndrome after coronary artery bypass grafting.

    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

    authors： Onishi T,Shimada K,Sunayama S,Ohmura H,Sumide T,Masaki Y,Fukao K,Nishitani M,Kume A,Sato H,Naito H,Kawai S,Amano A,Daida H

    更新日期：2009-06-01 00:00:00

  • [Infarct size related to the distribution and site of coronary artery lesions studied by the unfolded map technique using single photon emission computed tomography].

    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：

    authors： Kamihata H,Kurimoto T,Shimada T,Karakawa M,Matsuura T,Ogura E,Hata T,Hamaguchi Y,Inada M,Nishiyama Y

    更新日期：1988-03-01 00:00:00

  • Differential densities of cholinergic nerves in canine supraventricular regions of hearts.

    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

    authors： Li Z,Zhao QY,Huang H,Yang B,Jiang H,Huang CX

    更新日期：2013-03-01 00:00:00

  • [Predictors of prognosis after angioplasty in the unprotected left main coronary artery].

    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：

    authors： Kosuga K,Tamai H,Kyo E,Kawashima A,Hata T,Komori H,Tsuji T,Takeda S,Kawamura A,Motohara S,Uehata H

    更新日期：2000-09-01 00:00:00

  • [Comparison of the efficacies of disopyramide, cibenzoline and aprindine for the termination of paroxysmal and persistent atrial fibrillation in elderly and non-elderly patients].

    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：

    authors： Komatsu T,Nakamura S,Suzuki O,Yomogida K,Horiuchi D,Abe N,Kameda K,Owada S,Tomita H,Oikawa K,Okumura K

    更新日期：2003-04-01 00:00:00

  • [Cardiac sarcoidosis with multinucleated giant cells detected in endomyocardial biopsy specimens: report of 3 cases].

    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：

    authors： Sakoda S,Fukuhara T,Mitsunami K,Kinoshita M

    更新日期：1992-01-01 00:00:00

  • [Usefulness of intravenous myocardial contrast echocardiography in rats].

    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：

    authors： Kobayashi H,Beppu S,Hirayama H,Yagura S,Kashiwagi Y,Kayano H,Ishikura F

    更新日期：2001-04-01 00:00:00

  • Inferior J waves in patients with vasospastic angina might be a risk factor for ventricular fibrillation.

    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

    authors： Fumimoto T,Ueyama T,Shimizu A,Yoshiga Y,Ono M,Kato T,Ishiguchi H,Okamura T,Yamada J,Yano M

    更新日期：2017-09-01 00:00:00

  • Systolic blood pressure on admission as a marker of fluid re-distribution in acute heart failure.

    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

    authors： Uehara K,Yamamoto Y,Hatsuse S,Isotani Y,Fukuyama M,Yanagisawa K,Yamamoto K,Takizawa M,Uozumi H,Ikenouchi H

    更新日期：2019-09-01 00:00:00

  • [Aorto-coronary bypass surgery for children with Kawasaki disease].

    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：

    authors： Suzuki A,Kamiya T,Ono Y,Nakamura Y,Yagihara T

    更新日期：1991-01-01 00:00:00

  • Ablation perioperative dabigatran in use envisioning in Japan: The ABRIDGE-J Study Design.

    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

    authors： Goya M,Nogami A,Hirao K,Aonuma K

    更新日期：2016-09-01 00:00:00

  • Serum cystatin C levels are associated with coronary artery calcification in women without chronic kidney disease.

    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

    authors： Sugiyama H,Miyoshi T,Osawa K,Miki T,Koide Y,Nakamura K,Morita H,Ito H

    更新日期：2017-12-01 00:00:00

  • Cut-off value of strut-vessel distance for the resolution of acute incomplete stent apposition in the early phase using serial optical coherence tomography after cobalt-chromium everolimus-eluting stent implantation.

    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

    authors： Oda H,Itoh T,Sasaki W,Uchimura Y,Taguchi Y,Kaneko K,Sakamoto T,Goto I,Sakuma M,Ishida M,Kikuchi T,Terashita D,Otake H,Morino Y,Shinke T

    更新日期：2020-06-01 00:00:00

  • [Clinical investigation of inhomogeneity of washout rate in dipyridamole stress thallium scintigraphy: implication of new parameter for the indication of coronary intervention].

    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：

    authors： Arao M,Setsuta K,Seino Y,Takano T

    更新日期：2000-11-01 00:00:00

  • [Noninvasive evaluation of left ventricular function using new systolic time intervals obtained from continuous-wave Doppler echocardiography].

    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：

    authors： Ohte N,Nakano S,Hashimoto T,Narita H,Fujinami T

    更新日期：1990-01-01 00:00:00

  • [Percutaneous transvenous mitral commissurotomy vs open mitral commissurotomy: evaluation of results by color Doppler and two-dimensional echocardiography].

    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：

    authors： Hozumi T,Yoshikawa J,Yoshida K,Akasaka T,Yamaura Y,Shiratori K,Koizumi K,Okumachi F,Kato H

    更新日期：1993-01-01 00:00:00

  • Prediction of the filter no-reflow phenomenon in patients with angina pectoris by using multimodality: Magnetic resonance imaging, optical coherence tomography, and serum biomarkers.

    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

    authors： Matsumoto K,Ehara S,Hasegawa T,Otsuka K,Yoshikawa J,Shimada K

    更新日期：2016-05-01 00:00:00

  • [Left ventricular blood filling in patients with severe mitral stenosis: comparisons before and soon after percutaneous transluminal mitral commissurotomy].

    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：

    authors： Goto S,Abe S,Akaishi M,Yoshikawa T,Matsubara T,Ogawa S,Handa S

    更新日期：1992-01-01 00:00:00

  • Percutaneous revascularization of coronary chronic total occlusion: Toward a reappraisal of the available evidence.

    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

    authors： Karjalainen PP,Nammas W

    更新日期：2017-06-01 00:00:00

  • Temporal trends in the prevalence and outcomes of geriatric patients with acute myocardial infarction in Japan-A report from the Miyagi AMI Registry Study.

    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

    authors： Sato K,Takahashi J,Hao K,Miyata S,Suda A,Shindo T,Ikeda S,Kikuchi Y,Shiroto T,Matsumoto Y,Sakata Y,Shimokawa H

    更新日期：2020-05-01 00:00:00