Abstract:
BACKGROUND:Recent identification of mutations in the beta-myosin heavy chain gene (MYH7), a major responsible gene for HCM, has provided the opportunity to characterize genotype-phenotype correlation in HCM families. In this study we analysed the phenotypic expression of two beta-myosin heavy chain (beta MHC) mutations in three unrelated HCM families. METHODS:Living individuals from three unrelated HCM families (Families 1, 2, and 3) were screened by history, physical examination, electrocardiography, and two-dimensional echocardiography. Blood was collected from all individuals for DNA extraction. Polymerase chain reaction (PCR), restriction endonuclease digestion and chemical cleavage were utilized for detection of mutations. All mutations were confirmed by sequence analysis. RESULTS:Identification of mutations: A missense mutation in exon 13 of the beta MHC gene (Arg403 Gln) was detected in HCM patients from Families 1 and 2. PCR amplification of the exon 13 DNA, followed by Ddel digestion of the PCR product and gel electrophoresis, showed two fragments of 84 and 70 bp in normal individuals and four fragments of 84, 70, 52 and 32 bp in HCM patients. Sequence analysis showed substitution of an adenine for guanine at coding position 1208. In Family 3, a missense mutation in exon 16 of the beta MHC gene (Val606 Met) was detected in HCM patients. Chemical cleavage of the PCR products showed an uncleaved product of 337 bp in the normal individuals, while in the affected individuals, in addition to the uncleaved product, a 90 bp cleaved product was also detected, indicating the presence of a mismatch in one allele. Sequence analysis showed substitution of an adenine for guanine in coding position 1817. CLINICAL CHARACTERISTICS:Seven members of Family 1 had HCM, of whom five are alive. One patient died from sudden cardiac death (SCD) and another from recurrent cerebral emboli. In Family 2, 15 individuals had HCM of whom nine have died, seven from SCD. The mean age at the time of SCD was 33 years. The third family is comprised of 11 affected individuals and one obligate carrier, of whom one patient died at age 17 from progressive heart failure. Two additional individuals in this family have also succumbed to SCD to age 60. A variety of clinical and echocardiographic manifestations of HCM were present in each family. Logrank test of Kaplan-Meier survival curves indicates that Arg403 Gln mutation was associated with a poor prognosis in HCM families as compared to Val606 Met (P = 0.034). CONCLUSIONS:beta MHC mutations despite showing variable clinical and echocardiographic manifestations of HCM are predictors of survival in HCM families.
journal_name
Eur Heart Jjournal_title
European heart journalauthors
Marian AJ,Mares A Jr,Kelly DP,Yu QT,Abchee AB,Hill R,Roberts Rdoi
10.1093/oxfordjournals.eurheartj.a060920subject
Has Abstractpub_date
1995-03-01 00:00:00pages
368-76issue
3eissn
0195-668Xissn
1522-9645journal_volume
16pub_type
杂志文章abstract:AIMS:N-terminal pro-brain natriuretic peptide (NT-proBNP) levels predict outcomes in ST-elevation myocardial infarction patients treated with fibrinolysis or primary percutaneous coronary intervention (PCI). However, its role in facilitated PCI has not yet been assessed; it may be a tool to evaluate the lower event rat...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehp246
更新日期:2009-09-01 00:00:00
abstract:AIMS:The purpose of this study was to develop a practical risk score to predict poor neurological outcome after out-of-hospital cardiac arrest (OOHCA) for use on arrival to a Heart Attack Centre. METHODS AND RESULTS:From May 2012 to December 2017, 1055 patients had OOHCA in our region, of whom 373 patients were includ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehaa570
更新日期:2020-12-14 00:00:00
abstract:AIMS:There is growing need for the identification of novel non-invasive methodologies for the identification of individuals at risk for adverse cardiovascular (CV) events. We examined whether endothelial dysfunction, as detected by non-invasive peripheral arterial tonometry (EndoPAT), can predict late CV events. METHO...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/eurheartj/ehq010
更新日期:2010-05-01 00:00:00
abstract:AIMS :Individuals with low socioeconomic status (SES) face widespread prejudice in society. Whether SES disparities exist in treatment and survival following in-hospital cardiac arrest (IHCA) is unclear. The aim of the current retrospective registry study was to examine SES disparities in IHCA treatment and survival, a...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehaa954
更新日期:2020-12-21 00:00:00
abstract:AIMS:Very few data exist on the occurrence of acute kidney injury (AKI) associated with transcatheter aortic valve implantation (TAVI). The objectives of the present study were (i) to determine the incidence, predictive factors, and prognostic value of AKI following TAVI, and (ii) to compare the occurrence of AKI in TA...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/eurheartj/ehp552
更新日期:2010-04-01 00:00:00
abstract:AIMS:The aim of the study was to investigate the atrial myocardial deformation properties using ultrasound strain rate (SR) imaging in patients after catheter ablation of atrial fibrillation (AF) and to compare its prognostic value in maintaining sinus rhythm. METHODS AND RESULTS:A total of 118 patients with AF (74 pa...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehn168
更新日期:2008-06-01 00:00:00
abstract::Large-scale trials have demonstrated a consistent mortality reduction from angiotensin converting enzyme (ACE) inhibitor therapy for chronic heart failure. Nonetheless, the pharmacologic and physiologic mechanisms of this favourable affect and the appropriate target population remain controversial. ACE inhibitors exer...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/16.suppl_o.133
更新日期:1995-12-01 00:00:00
abstract::In recent years, stress echocardiography has gained broad acceptance as a non-invasive method for the diagnosis of coronary artery disease. Facing different protocols, dosages and instrumentation, official guidelines for the performance, standardization and quality control of stress echocardiograms are needed; however...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/18.suppl_d.43
更新日期:1997-06-01 00:00:00
abstract::In a 58-year-old man with vasospastic angina, we investigated the relationship between the antianginal effects of isosorbide dinitrate (ISDN) and plasma ISDN concentration. Despite adequate plasma ISDN levels, sustained therapy using ISDN tapes and oral ISDN (transcutaneously 160 mg and orally 100 mg ISDN day-1) faile...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060270
更新日期:1992-06-01 00:00:00
abstract::Re-entry was demonstrated as a self-perpetuating mechanism as early as 1906. It may lead to single-cycle electrocardiographic phenomena as well as reciprocating tachycardias. Factors favouring re-entry are as follows. Unidirectional or temporary local block of conduction, a mechanism always involved in initiation of r...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/5.suppl_b.19
更新日期:1984-09-01 00:00:00
abstract::The aim of the present investigation was to evaluate the type and the incidence of cardiac arrhythmias and ischaemic events in patients suffering from testicular cancer and submitted to combination chemotherapy with cisplatin, bleomycin and vinblastine (PVB) or etoposide (PEB). Forty-seven patients took part in the st...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060426
更新日期:1994-11-01 00:00:00
abstract::Twenty-one patients with Noonan syndrome are presented. Telecanthus low-set ears, epicanthus and facial asymmetry were the commoner facial stigmata. Pterygium colli, pectus excavatum-carinatum and mild physical and mental retardation were also common features. Pulmonary stenosis and patent ductus arteriosus were the m...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061452
更新日期:1983-04-01 00:00:00
abstract::To assess possible clinical and angiographic factors associated with acute coronary events following PTCA, we performed quantitative angiography in 168 consecutive patients who had undergone successful angioplasty in a native vessel (94 for stable angina, 74 for unstable angina), and who were restudied (24 +/- 15 week...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061051
更新日期:1995-08-01 00:00:00
abstract::A 54 year old woman with isolated stenosis of the left coronary ostium died following cardiac catheterisation and emergency coronary artery bypass surgery. Histological examination showed the ostial narrowing to be a local and discrete plaque of atherosclerosis. Like most reported cases this patient was a young woman ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a062359
更新日期:1987-08-01 00:00:00
abstract:AIMS:Several factors are known to increase risk for cerebrovascular disease and dementia, but there is limited evidence on associations between multiple vascular risk factors (VRFs) and detailed aspects of brain macrostructure and microstructure in large community-dwelling populations across middle and older age. METH...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz100
更新日期:2019-07-21 00:00:00
abstract::As regional wall motion abnormality (RWA) is the first sign of ischaemia, transoesophageal echocardiography was evaluated as a monitoring device in 51 patients undergoing abdominal aortic surgery. Wall motion of the entire left ventricular wall (nine segments) was semiquantitatively evaluated 15 min before and after a...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060309
更新日期:1992-08-01 00:00:00
abstract::Myocardial bridging of the left anterior descending coronary artery producing complete systolic occlusion was demonstrated in a patient with hypertrophic cardiomyopathy, who had localized myocardial hypertrophy in the lateral left ventricular wall outside the territory of that artery. Although a cause and effect relat...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/8.7.793
更新日期:1987-07-01 00:00:00
abstract::All citizens (N = 22066) aged 16 to 65 of a medium-sized Belgian town were personally invited to CPR training sessions held in their neighbourhood. 1152 responded by attending a training session. Those who did not so respond were surveyed (random sample N = 600) for reasons of their not coming. The sample fitted well ...
journal_title:European heart journal
pub_type: 杂志文章
doi:
更新日期:1987-03-01 00:00:00
abstract:AIM:Unstable coronary artery disease (CAD) is a multifactorial disease involving both thrombotic and inflammatory processes. We have assessed the time-course and the influence of thrombin inhibitors on changes in fibrinogen and C-reactive protein levels, and their relation to myocardial ischaemia in unstable CAD. METH...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1016/s0195-668x(02)00312-3
更新日期:2003-01-01 00:00:00
abstract::A major challenge for all health care systems is to identify the most efficient use of limited and finite resources available for health care. Economic evaluation provides a balance sheet of the benefits, harms and costs for making choices between alternative health care services and is one strategy to assist decision...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:
更新日期:1998-11-01 00:00:00
abstract::Measurement of the pre-ejection period (PEP) can give valuable information on myocardial function in rats. Depressed cardiac function is accompanied by prolongation of PEP, which shortens when cardiac function improves. Left ventricular ejection time (LVET) may be shortened with ageing in spontaneously hypertensive ra...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/11.suppl_i.114
更新日期:1990-12-01 00:00:00
abstract:AIMS:The curiosity that leanness is associated with poor survival in patients with chronic heart failure (CHF) needs further insight by investigating the impact of weight loss on prognosis in a large sample of patients across a broad spectrum of both reduced and preserved left ventricular (LV) systolic function. METHO...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/ehn420
更新日期:2008-11-01 00:00:00
abstract::Left ventricular volume and ejection fraction were measured by 2-dimensional echocardiography from 2 orthogonal apical long axis views in 90 patients admitted with acute transmural myocardial infarction. Results were correlated with worst Killip class during hospital stay, enzymatic infarct size (peak CK-MB) and morta...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061638
更新日期:1984-03-01 00:00:00
abstract:AIMS:Clonal haematopoiesis of indeterminate potential (CHIP), defined as the presence of an expanded somatic blood cell clone without other haematological abnormalities, was recently shown to increase with age and is associated with coronary artery disease and calcification. The most commonly mutated CHIP genes, DNMT3A...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz591
更新日期:2020-02-21 00:00:00
abstract::We investigated cardiovascular and coronary responses to intravenous infusions of adrenaline, which raised arterial concentrations in a stepwise fashion from basal to about 5-6 nmol.l-1, in 11 non-rejecting heart transplanted patients, and in eight intact innervated subjects. Cardiac adrenaline extraction and noradren...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/14.4.474
更新日期:1993-04-01 00:00:00
abstract::The clinical value of QRST isointegral maps (I-maps) for the detection of myocardial infarction (MI) in the presence of left bundle branch block (LBBB) was investigated. We recorded I-maps during sinus rhythm and right ventricular (RV) pacing, which simulated LBBB, in 62 patients with MI (42 patients had at least one ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/14.8.1094
更新日期:1993-08-01 00:00:00
abstract:AIMS:The 2019 report from the European Society of Cardiology (ESC) Atlas provides a contemporary analysis of cardiovascular disease (CVD) statistics across 56 member countries, with particular emphasis on international inequalities in disease burden and healthcare delivery together with estimates of progress towards me...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz859
更新日期:2020-01-01 00:00:00
abstract::Type 2 diabetes mellitus (T2DM) is characterized by multiple pathophysiologic abnormalities. With time, multiple glucose-lowering medications are commonly required to reduce and maintain plasma glucose concentrations within the normal range. Type 2 diabetes mellitus individuals also are at a very high risk for microva...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/ehv239
更新日期:2015-09-07 00:00:00
abstract::The pharmacokinetics of glyceryl trinitrate are still not completely understood. The substance disappears rapidly from plasma largely by extrahepatic mechanisms. It is converted in glyceryl dinitrates and glyceryl mononitrates. After transdermal application of a controlled delivery system, plasma concentrations of gly...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/9.suppl_a.33
更新日期:1988-01-01 00:00:00
abstract:AIMS:We aimed to assess the contemporary outcome of Eisenmenger syndrome (ES), delineate the use of disease targeting therapies (DTT) in these patients and to investigate the effect of treatment on outcome in the community. METHODS AND RESULTS:Patients with ES were systematically identified from the German National Re...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehv743
更新日期:2016-05-07 00:00:00