Abstract:
BACKGROUND:Mutations in sarcomere protein, PRKAG2, LAMP2, alpha-galactosidase A (GLA), and several mitochondrial genes can cause rare familial cardiomyopathies, but their contribution to increased left ventricular wall thickness (LVWT) in the community is unknown. METHODS AND RESULTS:We studied 1862 unrelated participants (52% women; age, 59+/-9 years) from the community-based Framingham Heart Study who had echocardiograms and provided DNA samples but did not have severe hypertension, aortic prosthesis, or significant aortic stenosis. Eight sarcomere protein genes, 3 storage cardiomyopathy-causing genes, and 27 mitochondrial genes were sequenced in unrelated individuals with increased LVWT (maximum LVWT >13 mm). Fifty eligible participants (9 women) had unexplained increased LVWT. We detected 8 mutations in 9 individuals (2 women); 7 mutations in 5 sarcomere protein genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL3), and 1 GLA mutation. In individuals with increased LVWT, participants with sarcomere protein and storage mutations were clinically indistinguishable from those without mutations. CONCLUSIONS:In a community-based cohort, about 3% of eligible participants had increased LVWT, of whom 18% had sarcomere protein or lipid storage gene mutations. Increased LVWT in the community is a very heterogeneous condition, which sometimes may arise from single-gene variants in one of a number of genes.
journal_name
Circulationjournal_title
Circulationauthors
Morita H,Larson MG,Barr SC,Vasan RS,O'Donnell CJ,Hirschhorn JN,Levy D,Corey D,Seidman CE,Seidman JG,Benjamin EJdoi
10.1161/CIRCULATIONAHA.105.593558subject
Has Abstractpub_date
2006-06-13 00:00:00pages
2697-705issue
23eissn
0009-7322issn
1524-4539pii
CIRCULATIONAHA.105.593558journal_volume
113pub_type
杂志文章相关文献
CIRCULATION文献大全abstract:BACKGROUND:Intentional weight loss is associated with lower risk of heart failure (HF) and atherosclerotic cardiovascular disease among patients with type 2 diabetes. However, the contribution of baseline measures and longitudinal changes in fat mass (FM), lean mass (LM), and waist circumference (WC) to the risk of HF ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.120.050941
更新日期:2020-12-22 00:00:00
abstract:BACKGROUND:The combination of statin therapy and PCSK9 (proprotein convertase subtilisin/kexin type 9) inhibition markedly lowers low-density lipoprotein cholesterol (LDL-C) and reduces cardiovascular event rates. Whether residual inflammatory risk as measured by on-treatment high sensitivity C-reactive protein (hsCRP)...
journal_title:Circulation
pub_type: 杂志文章,随机对照试验
doi:10.1161/CIRCULATIONAHA.118.034645
更新日期:2018-07-10 00:00:00
abstract:BACKGROUND:Low-density lipoprotein (LDL) impairs endothelial cell function by uncoupling endothelial nitric oxide synthase (eNOS) activity, which allows superoxide anion (O2*-)) to be generated rather than nitric oxide (*NO). Recent reports indicate that apolipoprotein (apo) A-1 mimetics inhibit the development of athe...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.0000061949.17174.b6
更新日期:2003-03-25 00:00:00
abstract:BACKGROUND:Development of left ventricular hypertrophy in aortic stenosis (AS) is accompanied by coronary microcirculatory dysfunction, demonstrated by an impaired coronary vasodilator reserve (CVR). However, evidence for regional abnormalities in myocardial blood flow (MBF) and the potential mechanisms is limited. The...
journal_title:Circulation
pub_type: 临床试验,杂志文章
doi:10.1161/hc0402.102931
更新日期:2002-01-29 00:00:00
abstract::Two hundred twenty-nine hospital survivors of acute myocardial infarction (MI) age 60 years or younger underwent coronary arteriography a median of 2 weeks after infarction and were followed a median of 24 months (range 6-62 months). For 62%, MI was the first presentation of coronary disease and 75% were in clinical K...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.67.4.743
更新日期:1983-04-01 00:00:00
abstract:BACKGROUND:Current methods of signal-averaged ECG analysis interrogate the terminal 40 msec of the QRS complex and/or the ST segment and have a low positive-predictive accuracy for detecting vulnerability to sustained ventricular tachycardia (VT). The extent to which abnormalities detected during these ECG intervals ar...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.86.6.1888
更新日期:1992-12-01 00:00:00
abstract::We sought to identify theoretical advantages and applications of the centerline method for quantitative assessment of regional ventricular function. Motion was measured along 100 chords constructed perpendicular to a centerline drawn midway between the end-diastolic and end-systolic contours, and normalized for heart ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.74.2.293
更新日期:1986-08-01 00:00:00
abstract:BACKGROUND:N-methyl-1-deoxynojirimycin (MOR-14), an alpha-glucosidase inhibitor, reduces the glycogenolytic rate by inhibiting the alpha-1,6-glucosidase of glycogen-debranching enzyme in the liver, in addition to possessing an antihyperglycemic action by blocking alpha-1,4-glucosidase in the intestine. Because the redu...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.97.13.1290
更新日期:1998-04-07 00:00:00
abstract:BACKGROUND:Endothelial nitric oxide (NO)-mediated responses are impaired in arterioles of male spontaneously hypertensive rats (SHR), but they are still present in female SHR. We hypothesized that in vitro incubation of arterioles of male SHR with estrogen will restore NO-mediated responses by upregulation of endotheli...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.101.1.94
更新日期:2000-01-04 00:00:00
abstract:BACKGROUND:Heart valve surgery has an associated in-hospital mortality rate of 4% to 8%. This study aims to develop a simple risk model to predict the risk of in-hospital mortality for patients undergoing heart valve surgery to provide information to patients and clinicians and to facilitate institutional comparisons. ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.104.515049
更新日期:2005-07-12 00:00:00
abstract:BACKGROUND:Heart rate (HR) variability is a marker of tonic cardiac autonomic activity and contributes in assessing risk for sudden death after myocardial infarction. Recent clinical observations have indicated that attenuation of HR variability, which occurs after myocardial infarction, may be transient. This study ad...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.90.2.976
更新日期:1994-08-01 00:00:00
abstract:BACKGROUND:More than 300 000 out-of-hospital cardiac arrests (OHCA) occur each year in the United States. The relationship between time of day and OHCA outcomes in the prehospital setting is unknown. Any such association may have important implications for emergency medical services resource allocation. METHODS AND RE...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.113.002058
更新日期:2013-04-16 00:00:00
abstract:BACKGROUND:Aortic valve-preserving procedures have resulted in excellent outcomes in selected patients, particularly those with normal aortic valve leaflets and dilated aortic roots. However, several congenital heart lesions are associated with abnormal aortic valve leaflets. The long-term results of aortic valve repai...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.102.suppl_3.iii-40
更新日期:2000-11-07 00:00:00
abstract:BACKGROUND:Growth of atherosclerotic plaques is accompanied by neovascularization from vasa vasorum microvessels extending through the tunica media into the base of the plaque and by lumen-derived microvessels through the fibrous cap. Microvessels are associated with plaque hemorrhage and may play a role in plaque rupt...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.CIR.0000143233.87854.23
更新日期:2004-10-05 00:00:00
abstract:BACKGROUND:Coronary blood flow occurs mainly during the diastolic phase of each cardiac cycle and is mainly dependent on diastolic driving pressure, especially in the left anterior descending coronary artery (LAD). We hypothesized that calculation of the ratio of the diastolic driving pressure of a stenotic LAD to its ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.102.19.2365
更新日期:2000-11-07 00:00:00
abstract:BACKGROUND:Proprotein convertase subtilisin kexin type 9 (PCSK9) promotes the degradation of the low-density lipoprotein (LDL) receptor (LDLR), and its deficiency in humans results in low plasma LDL cholesterol and protection against coronary heart disease. Recent evidence indicates that PCSK9 also modulates the metabo...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.113.006720
更新日期:2014-07-29 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::The echographic isovolumic contraction time (ICT) of the left ventricle (LV) was measured in order to assess alterations of LV performance in children with various forms of cardiac disease. The echographic ICT was defined as the interval between coaptation of the anterior and posterior mitral valve leaflets and aortic...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.54.5.751
更新日期:1976-11-01 00:00:00
abstract:BACKGROUND:Atrial flutter (AFL) and atrial fibrillation (AF) frequently coexist, yet the specific relationship between these arrhythmias, and particularly whether sustained AFL leads to AF, is unknown. METHODS AND RESULTS:We investigated the electrophysiological consequences of chronic AFL using an ovine anatomic righ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/hc0202.102012
更新日期:2002-01-15 00:00:00
abstract:BACKGROUND:Type 2 diabetes (DM-2) and impaired glucose metabolism (IGM) are associated with an increased cardiovascular disease risk. In nondiabetic individuals, increased arterial stiffness is an important cause of cardiovascular disease. Associations between DM-2 and IGM and arterial stiffness have not been systemati...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.CIR.0000065222.34933.FC
更新日期:2003-04-29 00:00:00
abstract:BACKGROUND:The novel phosphate binder sevelamer has been shown to prevent the progression of aortic and coronary calcification in uremic patients. Whether it also decreases the progression of atheromatous plaques is unknown. The aim of our study was to examine the effect of sevelamer administration on the development o...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA105.541854
更新日期:2005-11-01 00:00:00
abstract:BACKGROUND:Chimeric molecules comprising the A-chain of tissue-type plasminogen activator (t-PA) and the catalytic domain of urokinase-type plasminogen activator (u-PA) have intact enzymatic characteristics of u-PA, partial fibrin-binding properties of t-PA, and thrombolytic properties in animal models comparable with ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.84.3.1216
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:Cystic medial degeneration (CMD) is a histological abnormality that is common in the aortic diseases associated with Marfan's syndrome (MFS). Although little known about the mechanism underlying CMD, several recent reports have demonstrated that vascular smooth muscle cell (VSMC) apoptosis could play a subst...
journal_title:Circulation
pub_type: 临床试验,杂志文章
doi:10.1161/hc37t1.094856
更新日期:2001-09-18 00:00:00
abstract::The dynamics between mitral anulus motion, and, thus, motion of the base of the heart, and filling of the left atrium and ventricle were studied by Doppler echocardiography in 12 normal subjects and 28 patients with dilated cardiomyopathy. The normal motion of the mitral anulus is associated with two phases of inflow ...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.78.3.621
更新日期:1988-09-01 00:00:00
abstract:BACKGROUND:Patients with prior atherosclerosis in 1 or more vascular territories (coronary, cerebrovascular, or peripheral arterial) who present with acute coronary syndromes have high cardiovascular risk and may benefit significantly from evidence-based therapies, yet whether these are used consistently is unknown. M...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.109.877092
更新日期:2009-08-18 00:00:00
abstract::In 69 patients undergoing coronary artery bypass grafting for complete coronary revascularization, blood flow was measured in 140 grafts with 243 distal anastomoses (3.52 bypasses/patient). Total blood flow in single grafts and double and triple sequential grafts did not differ significantly, although mean distal flow...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.60.2.33
更新日期:1979-08-01 00:00:00
abstract::Coronary arteriography was performed before and after the intracoronary injection of nitroglycerin to determine the presence or absence of spasm in patients within the first 12 hours of acute myocardial infarction. Coronary arterial spasm was demonstrated in six of fifteen (40%) acute myocardial infarctions associated...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.56.3.366
更新日期:1977-09-01 00:00:00
abstract::A longitudinal study was made of 62 patients with dextro-transposition of the great arteries. The patients were managed with balloon atrial septostomy (BAS), palliative surgery if any operation was needed in the first year of life, and Mustard intra-atrial baffle repair after one year of age. Of the 47 patients with i...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.51.1.32
更新日期:1975-01-01 00:00:00
abstract:BACKGROUND:Sublingual nitrates are much more effective in relieving angina pectoris in patients with coronary artery disease than in patients with syndrome X, but it is not known whether their effect on exercise tolerance is also different in these two groups of patients. METHODS AND RESULTS:Treadmill exercise testing...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/01.cir.90.6.2695
更新日期:1994-12-01 00:00:00
abstract::Under the auspices of the Agency for Healthcare Research and Quality, the United States Preventive Services Task Force (USPSTF) recently released an update to its 1996 Peripheral Arterial Disease (PAD) Screening Recommendation Statement. The USPSTF recommended against PAD screening, giving the practice a "D" level rec...
journal_title:Circulation
pub_type: 杂志文章
doi:10.1161/CIRCULATIONAHA.105.607846
更新日期:2006-08-22 00:00:00