Abstract:
BACKGROUND:Friedreich's ataxia (FA), the most common inherited ataxia, is associated frequently with cardiac hypertrophy, and death is often cardiac related. Recently, the disease has been associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the gene encoding frataxin on chromosome 9. METHODS AND RESULTS:We studied 44 consecutive patients with FA, determined the size of GAA expansions in the frataxin gene, and examined the relation between the genotype and cardiac phenotype assessed by M-mode and two-dimensional echocardiography. All the patients were homozygous for the mutation. The size of the GAA expansion on the smaller allele varied from 270 to 1200. We found a correlation between the size of GAA expansion and the left ventricular wall thickness (r = .51, P < .001) and the left ventricular mass index (r = .45, P = .002). Left ventricular hypertrophy was observed in 81% of patients with a number of GAA repeats above the median value of 770 compared with only 14% in the other group (P = .002). CONCLUSIONS:These data demonstrate that in FA, the severity of left ventricular hypertrophy is related to the number of GAA repeats. These results suggest that abnormalities of the gene encoding frataxin, a protein of unknown function highly expressed in the normal heart, may play an important role in the modulation of cardiac hypertrophy.
journal_name
Circulationjournal_title
Circulationauthors
Isnard R,Kalotka H,Dürr A,Cossée M,Schmitt M,Pousset F,Thomas D,Brice A,Koenig M,Komajda Mdoi
10.1161/01.cir.95.9.2247subject
Has Abstractpub_date
1997-05-06 00:00:00pages
2247-9issue
9eissn
0009-7322issn
1524-4539journal_volume
95pub_type
杂志文章相关文献
CIRCULATION文献大全abstract:BACKGROUND:Recent data suggest that the Berlin Heart EXCOR Pediatric ventricular assist device is superior to extracorporeal membrane oxygenation for bridge to heart transplantation. Published data are limited to 1 in 4 children who received the device as part of the US clinical trial. We analyzed outcomes for all US c...
journal_title:Circulation
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1161/CIRCULATIONAHA.112.000685
更新日期:2013-04-23 00:00:00
abstract:BACKGROUND:Although long-term lipid-lowering therapy improves endothelium-dependent vasodilatation in humans, it remains unknown whether the short-term removal of LDL per se ameliorates endothelial dysfunction. METHODS AND RESULTS:To examine the effects of a single session of LDL apheresis on endothelial function in p...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.95.1.76
更新日期:1997-01-07 00:00:00
abstract:BACKGROUND:The prevalence, prognostic import, and impact of renal insufficiency on the benefits of ACE inhibitors and beta-blockers in community-dwelling patients with heart failure are uncertain. METHODS AND RESULTS:We analyzed data from a prospective cohort of 754 patients with heart failure who had ejection fractio...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.CIR.0000116764.53225.A9
更新日期:2004-03-02 00:00:00
abstract::From 1962-1977, 99 patients, mean age 65 +/- 0.5 years (range 60-81 years) underwent valve replacement for severe calcific aortic valve stenosis. Ninety-three percent of the patients were in New York Heart Association functional class III or IV. The aortic valve gradient was 76 +/- 3 mm Hg and the aortic valve area in...
journal_title:Circulation
pub_type: 杂志文章
doi:
更新日期:1981-08-01 00:00:00
abstract:BACKGROUND:Noninvasively assessed pulmonary pressure elevations and left ventricular (LV) diastolic dysfunction are associated with increased mortality in adults with sickle cell disease, but their relationship to exercise intolerance has not been evaluated prospectively. METHODS AND RESULTS:Echocardiography, 6-minute...
journal_title:Circulation
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1161/CIRCULATIONAHA.111.032920
更新日期:2011-09-27 00:00:00
abstract:BACKGROUND:Tumor necrosis factor alpha (TNF-alpha) increases in patients with severe congestive heart failure (CHF) and cachexia. Two naturally occurring modulators of TNF-alpha activity have been identified in human serum. These two soluble proteins are the extracellular domains of the TNF receptors (sTNF-RI and sTNF-...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.92.6.1479
更新日期:1995-09-15 00:00:00
abstract::Valve-related complications after Björk-Shiley mitral valve implantation (n = 475), aortic valve implantation (n = 424), or mitral-aortic valve implantation (n = 119) were compared with those after St. Jude Medical mitral valve replacement (n = 173), aortic valve replacement (n = 152), or mitral-aortic valve replaceme...
journal_title:Circulation
pub_type: 杂志文章
doi:
更新日期:1983-09-01 00:00:00
abstract:BACKGROUND:Recent experimental data indicate that ultrasound-induced destruction of ultrasound contrast microbubbles can cause immediate rupture of the microvessels in which these microbubbles are located. METHODS AND RESULTS:To examine the functional and morphological significance of these findings in the heart, isol...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/hc3001.092038
更新日期:2001-07-24 00:00:00
abstract:BACKGROUND:Blood oxygenation level-dependent (BOLD) magnetic resonance imaging (MRI) has been used to measure T2* changes in skeletal muscle tissue of healthy volunteers. The BOLD effect is assumed to primarily reflect changes in blood oxygenation at the tissue level. We compared the calf muscle BOLD response of patien...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.105.605717
更新日期:2006-06-27 00:00:00
abstract:BACKGROUND:The arrhythmia burden in tetralogy of Fallot, types of arrhythmias encountered, and risk profile may change as the population ages. METHODS AND RESULTS:The Alliance for Adult Research in Congenital Cardiology (AARCC) conducted a multicenter cross-sectional study to quantify the arrhythmia burden in tetralog...
journal_title:Circulation
pub_type: 杂志文章,多中心研究
doi:10.1161/CIRCULATIONAHA.109.928481
更新日期:2010-08-31 00:00:00
abstract:BACKGROUND:Myocardial perfusion during adenosine-induced hyperemia is used both in clinical diagnosis of coronary heart disease and for scientific investigations of the myocardial microcirculation. The objective of this study was to clarify whether adenosine-induced hyperemia is dependent on endothelial NO production o...
journal_title:Circulation
pub_type: 临床试验,杂志文章
doi:10.1161/hc4401.098293
更新日期:2001-11-06 00:00:00
abstract:BACKGROUND:Aging results in vascular stiffening and an increase in the velocity of the pressure wave as it travels down the aorta. Increased aortic pulse wave velocity (aPWV) has been associated with mortality in clinical but not general populations. The objective of this investigation was to determine whether aPWV is ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.104.483628
更新日期:2005-06-28 00:00:00
abstract:BACKGROUND:Beta-blockers improve clinical outcome when administered early after acute myocardial infarction. However, whether beta-blockers actually reduce the myocardial infarction size is still in dispute. Cardiac magnetic resonance imaging can accurately depict the left ventricular (LV) ischemic myocardium at risk (...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.106.679639
更新日期:2007-06-12 00:00:00
abstract:BACKGROUND:Clinical detection of transplant rejection by repeated endomyocardial biopsy requires catheterization and entails risks. Recently developed molecular and cellular imaging techniques that visualize macrophage host responses could provide a noninvasive alternative. Yet, which macrophage functions may provide u...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.108.796888
更新日期:2009-04-14 00:00:00
abstract:BACKGROUND:Some large epidemiological studies have shown an increase in mortality at low levels of total and LDL cholesterol. It has been speculated that low cholesterol levels may play a causative role in this association. To investigate this question, we analyzed all deaths occurring among middle-aged men in the Müns...
journal_title:Circulation
pub_type: 杂志文章,多中心研究
doi:10.1161/01.cir.96.7.2128
更新日期:1997-10-07 00:00:00
abstract:BACKGROUND:Monocyte chemoattractant protein-1 (MCP-1) is a chemokine responsible for the recruitment of monocytes to sites of inflammation. MCP-1 appears to play a critical role at multiple stages in atherosclerosis, including the initiation of the fatty streak, promotion of plaque instability, and remodeling after myo...
journal_title:Circulation
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1161/01.cir.0000049742.68848.99
更新日期:2003-02-11 00:00:00
abstract::Recent reports of selected observational studies and a meta-analysis have stirred controversy and have become the impetus for calls to abandon recommendations for reduced sodium intake by the US general population. A detailed review of these studies documents substantial methodological concerns that limit the usefulne...
journal_title:Circulation
pub_type: 共识发展会议,杂志文章
doi:10.1161/CIR.0b013e318279acbf
更新日期:2012-12-11 00:00:00
abstract:BACKGROUND:The clinical significance of the interaction between clopidogrel and proton pump inhibitors (PPIs) remains unclear. METHODS AND RESULTS:We examined the relationship between PPI use and 1-year cardiovascular events (cardiovascular death, myocardial infarction, or stroke) in patients with acute coronary syndr...
journal_title:Circulation
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1161/CIRCULATIONAHA.111.032912
更新日期:2012-02-28 00:00:00
abstract:BACKGROUND:Coronary flow reserve (CFR), an integrated measure of focal, diffuse, and small-vessel coronary artery disease (CAD), identifies patients at risk for cardiac death. We sought to determine the association between CFR, angiographic CAD, and cardiovascular outcomes. METHODS AND RESULTS:Consecutive patients (n=...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.114.011939
更新日期:2015-01-06 00:00:00
abstract:BACKGROUND:The overall performance of available mechanical intravascular ultrasound catheters for fetal transesophageal echocardiography during fetoscopic fetal cardiac interventions in sheep has been limited by radioelectronic interference, low system frame rates, and low acoustic outputs. Therefore, a more reliable d...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/hc4001.097937
更新日期:2001-10-09 00:00:00
abstract:BACKGROUND:Cystathionine γ-lyase (CSE) produces H2S via enzymatic conversion of L-cysteine and plays a critical role in cardiovascular homeostasis. We investigated the effects of genetic modulation of CSE and exogenous H2S therapy in the setting of pressure overload-induced heart failure. METHODS AND RESULTS:Transvers...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.112.000855
更新日期:2013-03-12 00:00:00
abstract:BACKGROUND:We recently reported that sodium channel block can produce opposite effects on action potential duration (APD) and refractoriness in epicardial versus endocardial tissues of the canine ventricle. In addition, strong sodium channel current inhibition was found to cause loss of the action potential dome in epi...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.87.2.562
更新日期:1993-02-01 00:00:00
abstract::To assess the effects of angioplasty (PTCA) and intracoronary streptokinase (ICSK) on relative myocardial perfusion, we administered 99mTc-macroaggregated albumin (MAA) to the uninvolved coronary artery before successful PTCA in 33 patients and before successful infusion of ICSK in eight patients and of 111In-MAA into...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.72.2.334
更新日期:1985-08-01 00:00:00
abstract:BACKGROUND:Long QT syndrome (LQTS) is the first described and most common inherited arrhythmia. Over the last 25 years, multiple genes have been reported to cause this condition and are routinely tested in patients. Because of dramatic changes in our understanding of human genetic variation, reappraisal of reported gen...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.119.043132
更新日期:2020-02-11 00:00:00
abstract:BACKGROUND:The characteristics of transmembrane potential (TMP) at the core of functional reentry in the atrium are not well understood. METHODS AND RESULTS:In protocol 1 (11 dogs), isolated perfused canine right atria were mapped from the endocardial surface while simultaneous TMPs were recorded from the epicardial s...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.98.15.1556
更新日期:1998-10-13 00:00:00
abstract::Direct examination of the aortic orifice at the level of the aortic valves (aortic valvular orifice area, AVOA) in the short-axis plane was performed with a 3 MHz two-dimensional pulsed Doppler echocardiographic apparatus. The AVOA was mapped with the Doppler gate to detect or rule out the presence of a regurgitant ao...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.68.5.998
更新日期:1983-11-01 00:00:00
abstract:BACKGROUND:It was the aim of this study to assess the long-term effects of physical exercise and low-fat diet on the progression of coronary artery disease. At the beginning of the study, 113 male patients with coronary artery disease were randomized to an intervention group (n=56) or a control group (n=57); 90 patient...
journal_title:Circulation
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1161/01.cir.96.8.2534
更新日期:1997-10-21 00:00:00
abstract:BACKGROUND:Red blood cell transfusion can both benefit and harm. To inform decisions about transfusion, we aimed to quantify associations of transfusion with clinical outcomes and cost in patients having cardiac surgery. METHODS AND RESULTS:Clinical, hematology, and blood transfusion databases were linked with the UK ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.107.698977
更新日期:2007-11-27 00:00:00
abstract::Blood pressure and heart rate of 15 male shift workers were measured every 15 minutes for 24 hours during three work shifts: morning, 4:00 AM to noon; afternoon, noon to 8:00 PM; and night, 8:00 PM to 4:00 AM. For each shift, 24-hour systolic and diastolic blood pressure showed a large "trough" (the low pressure span)...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.80.2.341
更新日期:1989-08-01 00:00:00
abstract:BACKGROUND:Arterial relaxation is largely regulated by endothelial nitric oxide (NO). Its diminished activity has been associated with incipient atherosclerosis. We investigated the endothelium-dependent relaxation of aorta in apolipoprotein E-knockout (apoE-KO) mice exposed to single or repeated Chlamydia pneumoniae i...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.102.9.1039
更新日期:2000-08-29 00:00:00