Abstract:
:Andersen–Tawil syndrome (ATS) is a rare hereditary multisystem disorder. Ventricular arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS symptoms. The expressivity of these symptoms is, however, extremely variable, even within single ATS affected families, and not all ATS patients present with the full triad of symptoms. ATS patients may show a prolongation of the QT interval,which explains the classification as long QT syndrome type 7 (LQT7), and specific neurological or neurocognitive defects. In ATS type 1 (ATS1), the syndrome is associated with a loss-of-function mutation in the KCNJ2 gene,which encodes the Kir2.1 inward rectifier potassium channel. In ATS type 2 (ATS2), which does not differ from ATS1 in its clinical symptoms, the genetic defect is unknown. Consequently, ATS2 comprises all cases of ATS in which genetic testing did not reveal a mutation in KCNJ2. The loss-of-function mutations in KCNJ2 in ATS1 affect the excitability of both skeletal and cardiac muscle, which underlies the cardiac arrhythmias and periodic paralysis associated with ATS. Thus far, the molecular mechanism of the dysmorphic features is only poorly understood. In this review, we summarize the clinical symptoms, the underlying genetic and molecular defects, and the management and treatment of ATS.
journal_name
Int J Cardioljournal_title
International journal of cardiologyauthors
Nguyen HL,Pieper GH,Wilders Rdoi
10.1016/j.ijcard.2013.10.010subject
Has Abstractpub_date
2013-12-05 00:00:00pages
1-16issue
1eissn
0167-5273issn
1874-1754pii
S0167-5273(13)01824-Xjournal_volume
170pub_type
杂志文章,评审abstract::Doppler echocardiography is extensively used in clinical practice for the screening and detection of pulmonary hypertension (PH). It allows for accurate estimates of pulmonary artery pressures, but with moderate precision, which explains why it is more appropriate for population studies than for definitive diagnosis o...
journal_title:International journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.ijcard.2018.04.024
更新日期:2018-07-15 00:00:00
abstract:BACKGROUND:Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy characterized by numerous excessively prominent trabeculations and deep intertrabecular recesses. Noncompaction of the ventricular myocardium is most often an isolated cardiac malformation presenting as a sporadic disease. Associ...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2004.05.033
更新日期:2005-07-10 00:00:00
abstract:BACKGROUND:Atrial fibrillation (AF) is an arrthymia characterized by increased risk of ventricle arrthymias and thromboembolism especially ischemic stroke. Most thrombus originated in the left atrial appendage, thus left atrial occlusion (LAAO) may be an effective alternative for stroke prevention in atrial fibrillatio...
journal_title:International journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.ijcard.2015.10.011
更新日期:2016-01-15 00:00:00
abstract:OBJECTIVES:Chronic kidney disease (CKD) is a risk factor for peripheral artery disease (PAD), but the impact of CKD in PAD patients who received endovascular treatment (EVT) is not well studied. Aim of this study is to clarify the impact of CKD in patients with PAD in real EVT era. METHODS:Using the Korean Vascular In...
journal_title:International journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ijcard.2018.03.108
更新日期:2018-07-01 00:00:00
abstract::Left main coronary artery (LMCA) disease is now uniformly treated with coronary artery bypass grafting (CABG). However, some patients with LMCA disease do not receive CABG because of high operative risks. The advent of stent implantation has permitted a non-operative improvement in myocardial blood flow in many patien...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/s0167-5273(01)00478-8
更新日期:2001-09-01 00:00:00
abstract::The diagnosis of cardiac syndrome X (CSX) is often a diagnosis of exclusion and hence requires a systematic and comprehensive assessment of each patient to rule out more common causes of chest discomfort. The definitive technique for the diagnosis of CSX is not currently available. Many patients with chest pain and no...
journal_title:International journal of cardiology
pub_type: 评论,信件
doi:10.1016/j.ijcard.2008.11.110
更新日期:2010-07-09 00:00:00
abstract:BACKGROUND:Postoperative new-onset atrial fibrillation (PNAF) is the most common complication following cardiac surgery. The inflammatory response, as a potential underlying mechanism, has been extensively studied. In small studies, the white blood cell count (WBC) has been shown to be the only consistent inflammatory ...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2016.11.038
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Therapy using bone marrow (BM) cells has been tested experimentally and clinically due to the potential ability to restore cardiac function by regenerating lost myocytes or increasing the survival of tissues at risk after myocardial infarction (MI). In this study we aimed to evaluate whether BM-de...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2013.06.026
更新日期:2013-10-09 00:00:00
abstract:BACKGROUND:Although sexual problems in cardiac patients are receiving increasing attention, research on sexual functioning of patients with congenital heart disease is very scarce. Therefore, this study investigated sexual functioning in adults with congenital heart disease and compared this with that of matched, healt...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2006.10.020
更新日期:2007-09-14 00:00:00
abstract:BACKGROUND:Geranylgeranylacetone (GGA) has been reported up-regulating heat shock protein (HSP) expression, and protecting against atrial remodeling. This study aimed to investigate the effects of GGA on atrial electrophysiology and inducibility of atrial fibrillation (AF) in heart failure (HF) model. METHODS AND RESU...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2013.06.072
更新日期:2013-10-09 00:00:00
abstract:BACKGROUND:Proton pump inhibitors (PPIs) are among the commonest drugs used nowadays. The aim of our study was to analyze prolonged utilization of proton pump inhibitors in medical therapy of patients with ischemic and valvular heart disease. Secondly, profile of utilization was scrutinized to patient characteristics a...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2016.06.058
更新日期:2016-09-15 00:00:00
abstract::A 72-year-old man with a large mass in the right atrium and the pulmonary embolism by chest computed tomography was diagnosed as the primary cardiac B-cell lymphoma (PCL) with pulmonary tumor embolism and pericardial effusion. Upon completion of initial chemotherapy, the mass was markedly reduced, and the pulmonary em...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2005.06.054
更新日期:2006-07-28 00:00:00
abstract::Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromo...
journal_title:International journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/j.ijcard.2010.05.070
更新日期:2011-01-21 00:00:00
abstract::Conventional criteria of ST segment elevation in right sided chest leads or loss of initial 'r' wave in leads V3R or V4R have low sensitivity and specificity in diagnosing right ventricular involvement in the presence of left ventricular posterior infarction. Slurring of R wave either in right sided chest leads or in ...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/s0167-5273(98)00003-5
更新日期:1999-01-01 00:00:00
abstract::In this substudy of the ADAPT-DES trial Généreux et al. compared two years outcomes according to the presence or absence of coronary artery calcification (CAC) as assessed by coronary angiography. Coronary calcification was an independent predictor of interventional treatment failure and a higher incidence of both isc...
journal_title:International journal of cardiology
pub_type: 社论
doi:10.1016/j.ijcard.2017.01.054
更新日期:2017-03-15 00:00:00
abstract::The aim of our study was to assess the independent relationships of urinary albumin excretion rate (AER), of creatinine clearance (CrCl) and of their interaction with aortic stiffness in hypertensive patients without overt renal insufficiency. We studied 222 untreated nondiabetic essential hypertensives. In patients w...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2010.02.047
更新日期:2010-11-19 00:00:00
abstract:BACKGROUND:Endothelial dysfunction and abnormal vascular structure may be involved in the pathogenesis of chronic heart failure (HF). The purpose of this study was to evaluate simultaneously vascular function and vascular structure in patients with heart failure with preserved ejection fraction (HFpEF). METHODS:We mea...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2017.01.024
更新日期:2017-03-15 00:00:00
abstract::We present the first described use of the Venture (St. Jude Medical Inc.) catheter to accomplish balloon crush stenting of a severely angulated bifurcation via the radial approach. We outline the lessons learned and pitfalls of performing percutaneous intervention to severely angulated bifurcations such as this one. ...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2007.04.016
更新日期:2007-08-09 00:00:00
abstract::A large family with a new phenotype of conduction system disease including heart blocks and preexcitation associated with hypertrophic cardiomyopathy and transmitted in an autosomal dominant pattern is described. ...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2006.12.050
更新日期:2008-04-25 00:00:00
abstract::It is known that regular exercise training improves endothelial dysfunction in coronary artery disease, but, little is known concerning different intensities of acute exercise on endothelial function. We evaluated anaerobic threshold and peak oxygen uptake level of acute exercise on flow-mediated dilatation in patient...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2006.11.243
更新日期:2008-03-14 00:00:00
abstract::An analysis of 6 patients with overriding atrioventricular valve was performed in order to correlate the anatomic and angiographic features of this malformation. The atrial arrangement was usual (situs solitus) in each patient. The ventricular chambers were normally related in 4 and the mirror image of normal in 2. Th...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/0167-5273(85)90031-2
更新日期:1985-11-01 00:00:00
abstract::Mongrel dogs of either sex with ligation of their left anterior descending coronary artery were employed for the present study to investigate the biochemical basis of the cardioprotective action of dilazep. Dilazep (0.2 mg/kg intravenous) was administered 20 minutes after coronary arterial occlusion. Ligation of the a...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/0167-5273(89)90244-1
更新日期:1989-05-01 00:00:00
abstract:BACKGROUND:Recent reports have provided evidence that bridging therapy with low-molecular-weight heparin (LMWH) may increase bleeding complications in patients with atrial fibrillation (AF) on oral anticoagulation undergoing percutaneous coronary intervention (PCI). We sought to assess mid-term bleeding and thromboembo...
journal_title:International journal of cardiology
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ijcard.2015.01.056
更新日期:2015-03-15 00:00:00
abstract:BACKGROUND:Periodontitis (PD) and type 2 diabetes (T2D) are characterized by increased mitochondrial oxidative stress production (mtROS), which has been associated with a greater risk of cardiovascular diseases (CVD). Intensive PD treatment (IPT) can significantly improve endothelial function and metabolic control, alt...
journal_title:International journal of cardiology
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ijcard.2018.05.019
更新日期:2018-11-15 00:00:00
abstract::The development of an arteriovenous fistula (AVF) is a rare complication of cardiac catheterization. We report a rare case with a femoral AVF following cardiac catheterization, originating from the right deep femoral artery and eventually draining into the right superficial femoral vein through the subcutaneous vein. ...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2007.01.080
更新日期:2007-06-25 00:00:00
abstract::Isolated subvalvular pulmonary stenosis (ISPS) is a rare condition, and it is often accompanied by hypertrophic cardiomyopathy. However, diagnosis of ISPS is obscure because of difficulty in comprehension of three-dimensional cardiac anatomy. Whole-heart magnetic resonance imaging (MRI) is a new, totally non-invasive ...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2007.05.106
更新日期:2009-01-09 00:00:00
abstract::A literature search covering national reports since the first published in Mexico (1957), discloses 237 adults and 55 children with a definitive diagnosis of Takayasu's arteritis. This condition was first recognized by an ophtalmologist in 1946, and it was communicated 10 years after his observation. Since 1957, 11 cl...
journal_title:International journal of cardiology
pub_type: 杂志文章,评审
doi:10.1016/s0167-5273(96)88779-1
更新日期:1996-08-01 00:00:00
abstract::Atrial fibrillation (AF) represents the most common sustained arrhythmia in clinical practice. Recent studies have demonstrated the possible implication of inflammation and oxidative stress in the pathogenesis of AF. Probucol, a lipid-lowering drug that has a potent antioxidant effect, may have favorably benefits on a...
journal_title:International journal of cardiology
pub_type: 信件
doi:10.1016/j.ijcard.2009.02.026
更新日期:2010-10-08 00:00:00
abstract:BACKGROUND:Some plaques lead to ST-segment elevation myocardial infarction (STEMI), whereas others cause non-ST-segment elevation acute coronary syndrome (NSTEACS). We used angiography and intravascular ultrasound (IVUS) to investigate the difference of culprit lesion morphologies in ACS. METHODS:Consecutive 158 ACS p...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/j.ijcard.2013.12.094
更新日期:2014-02-15 00:00:00
abstract::Two series of consecutive patients with disabling effort angina were studied prospectively. From the first series, 94 survivors were followed up 9 months after coronary artery bypass grafting. Thirty-five patients (37%) reported that they still suffered from effort angina. Another 26 patients (28%) also used to stop w...
journal_title:International journal of cardiology
pub_type: 杂志文章
doi:10.1016/0167-5273(86)90033-1
更新日期:1986-06-01 00:00:00