Abstract:
AIMS:Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype correlations in HCM, particularly the contribution of an MYL2 founder mutation and risk factors to left ventricular hypertrophic remodelling. METHODS AND RESULTS:We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G > A [p.(Glu22Lys)] mutation and a common founder haplotype. In this unique cohort, we investigated factors influencing phenotypic outcome in addition to the primary mutation. The mutation alone showed benign disease manifestation with low penetrance. The co-presence of additional risk factors for hypertrophy such as hypertension, obesity, or other sarcomeric gene mutation increased disease penetrance substantially and caused HCM in 89% of MYL2 mutation carriers (P = 0.0005). The most prominent risk factor was hypertension, observed in 71% of mutation carriers with HCM and an additional risk factor. CONCLUSION:The MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers. However, the presence of an additional risk factor for hypertrophy, particularly hypertension, adds to the development of HCM. Early diagnosis of risk factors is important for early treatment of MYL2 mutation carriers and close monitoring should be guaranteed in this case. Our findings also suggest that the presence of hypertension or another risk factor for hypertrophy should not be an exclusion criterion for genetic studies.
journal_name
Eur Heart Jjournal_title
European heart journalauthors
Claes GR,van Tienen FH,Lindsey P,Krapels IP,Helderman-van den Enden AT,Hoos MB,Barrois YE,Janssen JW,Paulussen AD,Sels JW,Kuijpers SH,van Tintelen JP,van den Berg MP,Heesen WF,Garcia-Pavia P,Perrot A,Christiaans I,Salemdoi
10.1093/eurheartj/ehv522subject
Has Abstractpub_date
2016-06-14 00:00:00pages
1815-22issue
23eissn
0195-668Xissn
1522-9645pii
ehv522journal_volume
37pub_type
杂志文章abstract:AIMS:Thrombin plays a key role in the clinical syndrome of unstable angina. We investigated the safety and efficacy of five dose levels of efegatran sulphate, a direct thrombin inhibitor, compared to heparin in patients with unstable angina. METHODS:Four hundred and thirty-two patients with unstable angina were enroll...
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:10.1053/euhj.1999.1477
更新日期:1999-08-01 00:00:00
abstract:AIMS:Nuclear receptors and their cofactors regulate key pathophysiological processes in atherosclerosis development. The transcriptional activity of these nuclear receptors is controlled by the nuclear receptor corepressors (NCOR), scaffolding proteins that form the basis of large corepressor complexes. Studies with pr...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz667
更新日期:2020-03-01 00:00:00
abstract::Transesophageal echocardiographic evaluation of right and left pulmonary arteries, up to the origin of their lobar branches, was prospectively performed with a single plane probe in 32 consecutive patients (18 M, 14 F, aged 55.5 +/- 14.6, from 32 to 80 years) with clinical or echocardiographic suspicion of pulmonary e...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060947
更新日期:1995-04-01 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::Isolated quadricuspid aortic valve is very rare. The identification of this malformation can be made by cross-sectional echocardiography. Two cases of quadricuspid aortic valve diagnosed by cross-sectional echocardiography are described. ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a062440
更新日期:1988-11-01 00:00:00
abstract:AIMS:To evaluate the efficacy of atrial pacing in the suppression of early reinitiation of atrial fibrillation after successful internal cardioversion. METHODS AND RESULTS:The efficacy of atrial pacing in suppressing early reinitiation of atrial fibrillation was studied in 12 of 45 (29%) patients with early reinitiati...
journal_title:European heart journal
pub_type: 临床试验,杂志文章
doi:10.1053/euhj.1999.1991
更新日期:2000-07-01 00:00:00
abstract:AIMS:The aims of the GISSI Prognosis Registry were to describe the diagnostic strategies initiated in acute myocardial infarction patients by a representative sample of Italian cardiological centres, and to determine which clinical or hospital characteristics were associated with the initiation of invasive diagnostic o...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1053/euhj.1998.1236
更新日期:1998-12-01 00:00:00
abstract::In a total of 339 patients with hypertrophic cardiomyopathies (typical HOCM, n = 224; atypical HOCM, n = 30; HNCM, n = 80) the clinical course, the Sokolow-Lyon index in the ECG and the prognosis as demonstrated by cumulative survival rates were analysed to get more differentiated information for the characterization ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/4.suppl_f.145
更新日期:1983-11-01 00:00:00
abstract::Clinical studies suggest that neutrophil activation during acute myocardial infarction (MI) aggravates tissue injury. Activated neutrophils are an important source of oxygen free radicals (OFR), the injurious effects of which are counteracted by endogenous antioxidants. We have previously shown in healthy subjects tha...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1093/oxfordjournals.eurheartj.a061045
更新日期:1995-08-01 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::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:AIMS:To investigate the association between neutrophil count, outcomes, and benefit of clopidogrel therapy in ST-elevation myocardial infarction (STEMI). METHODS AND RESULTS:Baseline neutrophil count was measured in 2865 patients in CLARITY-TIMI 28, a randomized trial of clopidogrel vs. placebo in STEMI patients under...
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/ehn112
更新日期:2008-04-01 00:00:00
abstract:AIMS:To describe patient characteristics, pre-hospital delay, treatment, complications and outcome in patients with acute myocardial infarction admitted to hospitals in Germany. METHODS AND RESULTS:The study was of prospective observational multicentre design. Those involved were consecutive patients with acute Q-wave...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/oxfordjournals.eurheartj.a015470
更新日期:1997-09-01 00:00:00
abstract::Streptococcus adjacens and S. defectivus are two recently individualized species of viridans streptococci. Both species were previously designated as nutritionally variant streptococci and characterized by their growth as small satellite colonies supported by 'helper' bacteria, or requiring complex media enriched with...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/16.suppl_b.24
更新日期:1995-04-01 00:00:00
abstract::The implementation of molecular biological approaches has led to the discovery of single genetic variations that contribute to the development of cardiac failure. In the present review, the characteristics that are invariably associated with the development of failure in experimental animals and clinical studies are d...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1016/s0195-668x(02)00829-1
更新日期:2003-05-01 00:00:00
abstract::In this study, the acute haemodynamic effects of angiotensin converting enzyme (ACE) inhibition with intravenous enalaprilat alone or in combination with preload restoration were determined in patients with severe heart failure complicating acute myocardial infarction. Ten patients with raised pulmonary arterial wedge...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060537
更新日期:1994-04-01 00:00:00
abstract::From a clinicopharmacological standpoint, the urinary excretory potency of diuretics should be assessed comparatively, on the basis of placebo-controlled changes in 24 h natriuresis, following single oral doses administered to healthy adult subjects who are in steady-state habitual external sodium balance. The potency...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1093/eurheartj/13.suppl_g.15
更新日期:1992-12-01 00:00:00
abstract::In the adult cardiac myocyte the functional and structural integrity of the sarcolemma depends on the presence of calcium ions in the extracellular fluid. Ultrastructural damage to the myocardial cell after Ca is repleted following brief periods of Ca depletion includes (1) sarcolemmal disruption, (2) mitochondrial da...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/4.suppl_h.23
更新日期:1983-12-01 00:00:00
abstract:UNLABELLED:To study the ablation effects induced by excimer laser coronary angioplasty (ELCA), we examined 41 segments of nine isolated coronary arteries. An electronic intracoronary ultrasound device (ICUS: 20 MHz, 3.5F, Endosonics) was positioned coaxially within the vessel. Angioplasty was performed using a 1.7 mm E...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060884
更新日期:1995-02-01 00:00:00
abstract:AIMS:This study assessed the relationship between inflammatory mediators and indices of infarct size and left-ventricular (LV) remodelling following successful primary percutaneous coronary intervention (PCI) in patients with first time ST elevation myocardial infarction (MI). METHODS AND RESULTS:Forty-two patients ad...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehp070
更新日期:2009-05-01 00:00:00
abstract:AIMS:The management and outcomes of patients with functional moderate/severe mitral regurgitation and severe left ventricular (LV) systolic dysfunction are not well defined. We sought to determine the characteristics, management strategies, and outcomes of patients with moderate or severe mitral regurgitation (MR) and ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehv343
更新日期:2015-10-21 00:00:00
abstract:AIM:To study the relationship between outcomes and peak creatine kinase (CK)-MB levels after percutaneous coronary intervention (PCI) in patients with non-ST-segment elevation acute coronary syndromes (NSTE ACS). METHODS AND RESULTS:Peak CK-MB ratios (peak CK-MB level/upper limit of normal [ULN]) after PCI were analys...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/j.ehj.2003.12.009
更新日期:2004-02-01 00:00:00
abstract::An inventory has been made of the practice of angioplasty in 14 European countries from 1985 onwards. The numbers of procedures performed varied in 1985 from 3 to 186 per million inhabitants, in 1991 from 52 to 716. All countries showed a steady increase, but the highest performer. Belgium, achieved only 55% of the nu...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/14.3.391
更新日期:1993-03-01 00:00:00
abstract::Approximately 20% of patients undergoing diagnostic coronary arteriography for acute or chronic cardiac ischaemia have angiographically normal coronary arteries. The mechanism behind this phenomenon is likely to be the result of a combination of functional or anatomical abnormalities in the coronary microcirculation, ...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/17.suppl_g.14
更新日期:1996-12-01 00:00:00
abstract::This overview provides a Europe-wide update on the current burden of cardiovascular disease, and specifically of coronary heart disease and stroke. Cardiovascular disease continues to cause a large proportion of deaths and disability in Europe, and places a substantial burden on the health care systems and economies o...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/eht356
更新日期:2013-10-01 00:00:00
abstract::Aims To assess whether coronary flow velocity reserve following stent implantation is predictive of the subsequent need of target lesion revascularization. Methods and Results The outcome was examined of 417 patients enrolled in a multicentre prospective randomized study (DESTINI), who received a successful single ves...
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:10.1053/euhj.2001.2734
更新日期:2002-02-01 00:00:00
abstract:AIMS:Calmodulinopathies are rare life-threatening arrhythmia syndromes which affect mostly young individuals and are, caused by mutations in any of the three genes (CALM 1-3) that encode identical calmodulin proteins. We established the International Calmodulinopathy Registry (ICalmR) to understand the natural history,...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz311
更新日期:2019-09-14 00:00:00
abstract::The incidence of cardiogenic shock (CS) has increased remarkably over the past decade and remains a challenging condition with mortality rates of ∼50%. Cardiogenic shock encompasses cardiac contractile dysfunction; however, it is also a multiorgan dysfunction syndrome, often complicated by a systemic inflammatory resp...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz783
更新日期:2020-10-14 00:00:00
abstract::Forty-one consecutive children with the Wolff-Parkinson-White (1-15 years: mean 8 years), 22 symptomatic [including 20 with supraventricular tachycardia (SVT) and one with ventricular fibrillation (VF) episode--Group A) and 19 asymptomatic (Group B)], underwent transoesophageal electrophysiological examination. The me...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060150
更新日期:1992-02-01 00:00:00
abstract::Reverse cholesterol transport is a multi-step process resulting in the net movement of cholesterol from peripheral tissues back to the liver via the plasma compartment. Cellular cholesterol efflux is mediated by HDL, acting in conjunction with the cholesterol esterifying enzyme, lecithin: cholesterol acyltransferase. ...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:
更新日期:1998-02-01 00:00:00