Abstract:
BACKGROUND:Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically investigated in endomyocardial biopsy (EMB) by ultrastructural study. AIMS:To describe a cardiological phenotype characterized by RCM plus AVB due to desmin accumulation caused by DES defects. METHODS AND RESULTS:Desmin accumulation was diagnosed by means of ultrastructural and immunocytochemical studies of EMB in four unrelated probands with RCM and AVB. Candidate genes [DES and alphaB-crystallin (CRYAB)] were screened using sequence analysis. Four DES gene mutations were identified: three new (R16C, T453I and a 10 bp deletion at the exon-intron boundary of exon 3 disrupting the donor splice site) and one known (R406W). The disease was autosomal dominant in two families, recessive in one and associated with a de novo mutation in one. The mutations cosegregated with phenotype in all patients. CRYAB gene screening was negative. CONCLUSIONS:A cardiac phenotype characterized by RCM and AVB caused by desmin accumulation is associated with DES mutations. Although the mutations affected different domains, the cardiac phenotype was identical.
journal_name
Eur J Heart Failjournal_title
European journal of heart failureauthors
Arbustini E,Pasotti M,Pilotto A,Pellegrini C,Grasso M,Previtali S,Repetto A,Bellini O,Azan G,Scaffino M,Campana C,Piccolo G,Viganò M,Tavazzi Ldoi
10.1016/j.ejheart.2005.11.003keywords:
subject
Has Abstractpub_date
2006-08-01 00:00:00pages
477-83issue
5eissn
1388-9842issn
1879-0844pii
S1388-9842(05)00301-6journal_volume
8pub_type
杂志文章abstract:BACKGROUND:Approximately one third of patients with chronic heart failure have left bundle branch block (LBBB) on their 12-lead ECG. METHODS AND RESULTS:1418 consecutive patients (average (SD) age 70.5 (10.4) years; 74% male) first seen in a community heart failure clinic between December 2001 and June 2006 had a 12 l...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1016/j.ejheart.2008.05.001
更新日期:2008-07-01 00:00:00
abstract::The RUSSLAN study, which randomised 504 patients with post-infarction heart failure in whom intravenous inotropic support might be deemed appropriate, was presented for the first time in a hotline session at the annual meeting of the Working Group on Heart Failure of the European Society of Cardiology. The study sugge...
journal_title:European journal of heart failure
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s1388-9842(99)00040-9
更新日期:1999-08-01 00:00:00
abstract:BACKGROUND:Several studies have shown that cardiac-resynchronization therapy (CRT) improves haemodynamic function, cardiac symptoms, and heart rate variability (HRV) and reduces the risk of mortality and sudden death in subjects with chronic heart failure (CHF). In subjects with CHF, power spectral values for the low-f...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.ejheart.2006.01.008
更新日期:2006-11-01 00:00:00
abstract:AIMS:In this randomized, double-blind clinical study, we investigated the relationship between autoantibodies against cardiac troponin I (cTnI) and disease severity in elderly congestive heart failure (CHF) patients before and after titration of beta-blocker therapy. METHODS AND RESULTS:Anti-cTnI, cTnI, and N-terminal...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurjhf/hfq088
更新日期:2010-07-01 00:00:00
abstract:AIM:Heart failure (HF) is a common condition with which high mortality, morbidity, and poor quality of life are associated. It has previously been shown that use of HF management programmes (HFMPs) in HF clinics can be beneficial. The purpose of this study was to evaluate if the use of HFMPs also has beneficial effects...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurjhf/hfs159
更新日期:2013-02-01 00:00:00
abstract:BACKGROUND:Renal failure in heart failure is related to decreased cardiac output. However, little is known about its association with venous congestion. AIMS:To investigate the relationship between venous congestion and glomerular filtration rate (GFR) in patients with cardiac dysfunction. METHODS AND RESULTS:Right a...
journal_title:European journal of heart failure
pub_type: 临床试验,杂志文章
doi:10.1016/j.ejheart.2007.05.010
更新日期:2007-09-01 00:00:00
abstract:OBJECTIVE:To achieve angiogenic interaction between VEGF(165) and angiopoietin-1 (Ang-1) using a novel adenoviral bicistronic vector (Ad-Bic) encoding the two factors and delivered ex vivo using sex-mismatched human skeletal myoblasts. METHODS AND RESULTS:A myocardial infarction model was developed in 29 female pigs; ...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1016/j.ejheart.2006.04.008
更新日期:2007-01-01 00:00:00
abstract:AIMS:We sought to test the utility of weight gain algorithms to predict episodes of worsening heart failure (WHF) using home-telemonitoring data collected as part of the TEN-HMS study. METHODS AND RESULTS:Simple rule-of-thumb (RoT) algorithms (i.e. 3 lbs in 1 day and 5 lbs in 3 days) and a moving average convergence d...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1093/eurjhf/hfp033
更新日期:2009-04-01 00:00:00
abstract:AIMS:To determine whether a strategy of intensive blood pressure control reduces the risk of heart failure (HF) events consistently across the spectrum of kidney function and albuminuria. METHODS AND RESULTS:SPRINT was a randomized clinical trial in which 9361 individuals ≥50 years, at high risk for or with cardiovasc...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.1971
更新日期:2020-07-21 00:00:00
abstract:AIM:To evaluate the long-term outcome of patients with Takotsubo syndrome (TTS) and severely reduced left ventricular ejection fraction (LVEF ≤ 35%) at presentation. METHODS AND RESULTS:The study population included 326 patients (mean age 69.5 ± 10.7 years, 28 male) with TTS enrolled in the Takotsubo Italian Network, ...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.1373
更新日期:2019-06-01 00:00:00
abstract:AIMS:Scarce data are available on the effect of the traditional Mediterranean diet (TMD) on heart failure biomarkers. We assessed the effect of TMD on biomarkers related to heart failure in a high cardiovascular disease risk population. METHODS AND RESULTS:A total of 930 subjects at high cardiovascular risk (420 men a...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ejhf.61
更新日期:2014-05-01 00:00:00
abstract:AIMS:Calcium channel plays an important role in the autoimmune pathogenesis of idiopathic dilated cardiomyopathy (DCM). Autoantibodies have emerged as a new upstream target of sudden death in DCM. We sought to validate the hypothesis that autoantibodies against l-type calcium channel (CC-AAbs) are arrhythmogenic and le...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1093/eurjhf/hfq198
更新日期:2011-03-01 00:00:00
abstract:AIMS:The 'Hospital at home' (HaH) model avoids hospital admission by transferring healthcare and treatment to the patient's home. We aimed to compare the effectiveness and direct healthcare costs of treating elderly patients with decompensated heart failure (HF) using HaH care vs. inpatient hospital care (IHC) in a car...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurjhf/hfp143
更新日期:2009-12-01 00:00:00
abstract:AIMS:Modulation of vagal tone using electrical vagal nerve stimulation or pharmacological acetylcholinesterase inhibition by donepezil exerts beneficial effects in an animal model of chronic heart failure (CHF). Considering different treatment mechanisms underlying renin-angiotensin system (RAS) suppression and parasym...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.164
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:It has been suggested that oxidative stress may play a role in the pathogenesis of heart failure, this may have potential implications for therapeutic strategies. However, measures of oxidative stress are subject to confounding inaccuracies. IgG antibodies to oxidized LDL reflect exposure to the lipoprotein ...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1016/j.ejheart.2005.04.015
更新日期:2006-01-01 00:00:00
abstract:AIMS:To identify novel risk markers for incident heart failure using proteomic profiling of 80 proteins previously associated with cardiovascular pathology. METHODS AND RESULTS:Proteomic profiling (proximity extension assay) was performed in two community-based prospective cohorts of elderly individuals without heart ...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究
doi:10.1002/ejhf.980
更新日期:2018-01-01 00:00:00
abstract:AIMS:Despite improvement in prognosis for ST-elevation myocardial infarction (STEMI) patients, mortality remains high in STEMI patients presenting with cardiogenic shock (CS). Right ventricular (RV) dysfunction is an established independent predictor for adverse prognosis in STEMI patients without CS. The purpose of ou...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1093/eurjhf/hfp204
更新日期:2010-03-01 00:00:00
abstract:AIMS:Left atrial (LA) mechanical function may play a significant role in the development and progression of heart failure with preserved ejection fraction (HFpEF). We performed a systematic review and meta-analysis to evaluate association of impaired LA function with outcomes in HFpEF. METHODS AND RESULTS:Multiple dat...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.1643
更新日期:2020-03-01 00:00:00
abstract:INTRODUCTION:Atrial fibrillation (AF) is common in patients with heart failure (HF) due to left ventricular systolic dysfunction (LVSD), with conflicting prognostic data. The aim of our study was to assess the prevalence and incidence of AF in patients with HF and to determine the prognostic impact of baseline AF and t...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ejheart.2006.08.004
更新日期:2007-03-01 00:00:00
abstract:BACKGROUND:Chronic heart failure (CHF) is a complex syndrome, in which reactive oxygen species and inflammatory cytokines are important stressors that contribute to the pathogenesis. AIM:We have studied physiological stress response parameters in CHF, in particular the redox-active regulator thioredoxin. SUBJECTS:A c...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1016/j.ejheart.2004.03.003
更新日期:2004-12-01 00:00:00
abstract:AIMS:The objective of this study was to establish the acute effects of hypoxia on clinical, spirometric, haemodynamic, and echocardiographic variables. Reducing inspired oxygen to 15%, as experienced during commercial air travel, decreases arterial oxygen saturation, increases respiratory rate and pulmonary artery pres...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1093/eurjhf/hft003
更新日期:2013-05-01 00:00:00
abstract:AIMS:With improvement in survival of chronic heart failure (HF), the clinical importance of co-morbidity is increasing. The aim of this study was to assess the incidence and risk of cancer and all-cause mortality in a large Danish HF cohort. METHODS AND RESULTS:A total of 9307 outpatients with verified HF without a pr...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.472
更新日期:2016-03-01 00:00:00
abstract:OBJECTIVES:To compare the efficacy of the homeopathic Crataegus preparation Cralonin for non-inferiority to standard treatment for mild cardiac insufficiency. METHODS:Multicentre non-randomised cohort study in patients aged 50-75 years in New York Heart Association class II. Patients received Cralonin (n=110) or ACE i...
journal_title:European journal of heart failure
pub_type: 杂志文章,多中心研究
doi:10.1016/s1388-9842(02)00237-4
更新日期:2003-06-01 00:00:00
abstract:AIMS:The cardio-renal syndrome plays a critical role in acute heart failure (HF). Levosimendan, an inodilator drug, has a positive but controversial effect on kidney. Our aim was to evaluate its effects on both renal and systemic haemodynamic parameters as well as on renal function, explaining the possible mechanisms i...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1002/ejhf.9
更新日期:2014-03-01 00:00:00
abstract:AIMS:Heart failure (HF) and chronic obstructive pulmonary disease are common partners. Bronchodilators are associated with adverse cardiovascular outcomes in patients with pulmonary disease. The outcome of patients with HF prescribed bronchodilators is poorly defined. METHODS AND RESULTS:The Candesartan in Heart failu...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurjhf/hfq040
更新日期:2010-06-01 00:00:00
abstract:AIMS:Red cell distribution width (RDW) has been associated with cardiovascular disease, but the relation to heart failure (HF) is unclear. We investigated the association between RDW and incidence of first hospitalization due to HF in a population-based cohort. METHODS AND RESULTS:Red cell distribution width was measu...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1093/eurjhf/hfr127
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Knowledge on clinical characteristics and prognosis of patients with heart failure originates from studies of selected populations in clinical trials or from epidemiological observations. Reports on the large numbers of patients with heart failure treated in community hospitals are sparse. OBJECTIVE:Are the...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1016/s1388-9842(01)00142-8
更新日期:2001-10-01 00:00:00
abstract:AIMS:Oral sucrosomial iron (SI) combines enhanced bioavailability and tolerance compared to conventional oral iron along with similar efficacy compared to intravenous iron in several conditions associated with iron deficiency (ID). METHODS AND RESULTS:In this non-randomized, open-label study, we sought to evaluate pro...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1002/ejhf.2092
更新日期:2021-01-09 00:00:00
abstract:AIMS:Chronic heart failure (CHF) due to left ventricular systolic dysfunction is associated with poor quality of life (QoL). This study aimed to assess factors affecting health-related QoL in CHF patients and their carers and the impact of QoL on clinical outcomes. METHODS AND RESULTS:Demographic, social, and clinical...
journal_title:European journal of heart failure
pub_type: 杂志文章
doi:10.1093/eurjhf/hfq114
更新日期:2010-09-01 00:00:00
abstract:AIMS:In the Digitalis Investigation Group (DIG) trial, digoxin reduced mortality or hospitalization due to heart failure (HF) in several pre-specified high-risk subgroups of HF patients, but data on protocol-specified 2-year outcomes were not presented. In the current study, we examined the effect of digoxin on HF deat...
journal_title:European journal of heart failure
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurjhf/hft010
更新日期:2013-05-01 00:00:00