Abstract:
BACKGROUND:Familial hypertrophic cardiomyopathy (HCM) is a clinically and genetically heterogeneous disease of the sarcomere. Molecular genetic studies have shown that familial HCM involves mutations in 8 different genes that encode proteins of the myofibrillar apparatus. METHODS:We thoroughly searched these genes to find the mutations in 38 probands of unrelated families with familial HCM. RESULTS:We found a novel missense mutation that resulted in Ala57Gly amino acid substitution of the ventricular essential myosin light chain (vMLC1) gene in two unrelated Korean families with familial HCM and one Japanese patient. The mutated site is located in the putative helix-loop-helix region (named EF-hand domain) of the calcium-binding site that is highly conserved in vMLC1 isoforms across the various species. The phenotype of this mutation in the affected families is a classic asymmetric septal hypertrophy, and the disease penetrance in genotyped members older than 18 years is 78%. In one Korean family a 42-year-old woman and two brothers (34 and 38 years old) with the mutation had fully expressed the disease, but two sisters (39 and 29 years old) with the mutation had no phenotypic expression of HCM. CONCLUSIONS:Ala57Gly mutation in the vMLC1 gene may exhibit the classic form of familial HCM and widely different penetration of the disease phenotype in the family members with mutation, especially in women.
journal_name
Am Heart Jjournal_title
American heart journalauthors
Lee W,Hwang TH,Kimura A,Park SW,Satoh M,Nishi H,Harada H,Toyama J,Park JEdoi
10.1067/mhj.2001.112487subject
Has Abstractpub_date
2001-02-01 00:00:00pages
184-9issue
2eissn
0002-8703issn
1097-6744pii
S0002870301614248journal_volume
141pub_type
杂志文章abstract::A new agent for use in contrast echocardiography that is capable of passing through the pulmonary circulation and opacifying the left ventricular cavity after intravenous injection was evaluated in a canine model. Air-filled albumin microbubbles were produced by sonication. A Coulter counter was used to size and count...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(87)90754-x
更新日期:1987-09-01 00:00:00
abstract::Our understanding of the pathogenesis of congestive heart failure (CHF) has improved remarkably in recent years. However, despite better knowledge and novel pharmaceutical strategies, this disease is still one of the most brutal killers in the Western world. The pathophysiology of CHF is complex, and much of our compr...
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更新日期:2003-03-01 00:00:00
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journal_title:American heart journal
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pub_type: 杂志文章,评审
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更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Patients with unstable angina (UA) and non-ST-elevation myocardial infarction (NSTEMI) remain at risk for death and cardiac ischemic events after being discharged from the hospital. METHODS:We examined whether the Thrombolysis In Myocardial Infarction (TIMI) risk score for UA/NSTEMI, ascertained at presenta...
journal_title:American heart journal
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2002-06-01 00:00:00
abstract:BACKGROUND:Postinterventional cognitive dysfunction (PICD) is a known complication of coronary artery bypass grafting (CABG). However, it is largely unknown whether PICD occurs after coronary catheterization. METHODS:Neuropsychologic data were obtained from 37 patients who received coronary catheterization and 47 pati...
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doi:10.1016/j.ahj.2011.07.021
更新日期:2011-10-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ahj.2010.07.013
更新日期:2010-11-01 00:00:00
abstract::The antihypertensive efficacy, safety, and lipid effects of doxazosin, a selective alpha 1-inhibitor, were assessed in a general practice setting. Three hundred twenty-six patients were entered into the study, which involved three phases: (1) a 2-week baseline period, (2) an 8-week period in which patients received 1 ...
journal_title:American heart journal
pub_type: 临床试验,杂志文章
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更新日期:1991-01-01 00:00:00
abstract::Sixty-nine patients receiving atrioventricular sequential (DVI) pacemakers are compared to 67 patients receiving ventricular demand (VVI) pacemakers for control of the symptoms of sinus node dysfunction. The populations were similar with comparable preparing incidences of each assayed symptom and number of symptoms pe...
journal_title:American heart journal
pub_type: 杂志文章
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更新日期:1982-12-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章,评审
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更新日期:1999-07-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(91)90078-v
更新日期:1991-06-01 00:00:00
abstract::Frequency-domain analysis of heart rate variability (HRV) appears to distinguish sympathetic and parasympathetic modulation of heart rate. The effects of acute reflex, as opposed to tonically augmented, cardiac vagal tone on HRV are not clearly defined. Power spectral components of HRV were measured in 36 patients und...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(95)90143-4
更新日期:1995-12-01 00:00:00
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journal_title:American heart journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1067/mhj.2002.119762
更新日期:2002-02-01 00:00:00
abstract::Major cardiovascular risk factors, such as hypertension, hyperlipidemia, and diabetes, often cluster in the same individuals. It has been claimed that obesity, hyperinsulinemia, insulin resistance, and a deranged intracellular handling of ions have pathogenetic importance in the development of this metabolic syndrome....
journal_title:American heart journal
pub_type: 杂志文章,评审
doi:10.1016/0002-8703(93)90446-g
更新日期:1993-05-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(91)90519-n
更新日期:1991-09-01 00:00:00
abstract::Six hundred fifty seven patients with angina pectoris underwent coronary angiography after measurement of plasma fibrinogen levels. Coronary artery disease (CAD) was angiographically confirmed in 75% of the patients. Other cardiac disease, either alone or in combination with CAD, was diagnosed in 8% and 11% of cases, ...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(93)90747-w
更新日期:1993-06-01 00:00:00
abstract::Combination therapy with mexiletine (MEX) and quinidine (Q) may be more efficacious than monotherapy with either drug in suppressing ventricular arrhythmias, but its effects on ventricular performance are not known. Thus, right ventricular ejection fraction (RVEF) and left ventricular ejection fraction (LVEF) and wall...
journal_title:American heart journal
pub_type: 临床试验,杂志文章
doi:10.1016/0002-8703(88)90072-5
更新日期:1988-05-01 00:00:00
abstract:BACKGROUND:Diabetes mellitus and impaired glucose metabolism are associated with increased risk for cardiovascular disease (CVD). However, it is still not clear whether glucose levels can predict CVD risk among patients without diabetes. The primary aim of this study is to assess whether normoglycemic fasting plasma gl...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/j.ahj.2012.03.023
更新日期:2012-07-01 00:00:00
abstract::High degree AV block occurred in 144 of 843 patients consecutively admitted because of acute inferior myocardial infarction and was associated with more extensive myocardial damage and a higher mortality rate, as compared to those without AV block. Patients with power failure at the time of appearance of high degree A...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(80)90308-7
更新日期:1980-01-01 00:00:00
abstract::Forty-four patients with atrial septal defects, aged 7 months to 18 years (median 8.9), underwent biplane transesophageal (TEE) and transthoracic (TTE) echocardiography. The size of the defect and the shunt flow volume were measured by TEE and compared with the actual size at surgery (N = 14) or the shunt volume measu...
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pub_type: 杂志文章
doi:10.1016/0002-8703(93)91008-3
更新日期:1993-05-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2014-09-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/j.ahj.2007.06.038
更新日期:2007-11-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ahj.2005.03.023
更新日期:2005-06-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(91)90272-j
更新日期:1991-12-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章,评审
doi:10.1016/s0002-8703(99)70321-2
更新日期:1999-08-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(93)90997-n
更新日期:1993-05-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(87)90277-8
更新日期:1987-02-01 00:00:00
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journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/j.ahj.2019.04.002
更新日期:2019-11-01 00:00:00
abstract::Little is known about the impact of accountable care organizations (ACO) on hospitalized heart failure (HF) patients, a high-cost and high-risk population. OBJECTIVE:We linked Medicare fee-for-service claims from 2013 to 2015 with data from American Heart Association Get With The Guidelines-HF registry to compare HF ...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/j.ahj.2020.04.028
更新日期:2020-08-01 00:00:00
abstract::Transthoracic echocardiography has played a useful role in the screening of cardiac transplant donors. However, transthoracic echocardiograms may be suboptimal in many patients on ventilators. The role of transesophageal echocardiography in cardiac donor screening is unknown. Therefore we compared the potential benefi...
journal_title:American heart journal
pub_type: 杂志文章
doi:10.1016/0002-8703(93)90758-2
更新日期:1993-06-01 00:00:00