Abstract：
BACKGROUND:Familial involvement is common in dilated cardiomyopathy (DCM) and >40 genes have been implicated in causing disease. However, the role of genetic testing in clinical practice is not well defined. We examined the experience of clinical genetic testing in a diverse DCM population to characterize the prevalence and predictors of gene mutations. METHODS AND RESULTS:We studied 264 unrelated adult and pediatric DCM index patients referred to 1 reference lab for clinical genetic testing. Up to 10 genes were analyzed (MYH7, TNNT2, TNNI3, TPM1, MYBPC3, ACTC, LMNA, PLN, TAZ, and LDB3), and 70% of patients were tested for all genes. The mean age was 26.6 ± 21.3 years, and 52% had a family history of DCM. Rigorous criteria were used to classify DNA variants as clinically relevant (mutations), variants of unknown clinical significance (VUS), or presumed benign. Mutations were found in 17.4% of patients, commonly involving MYH7, LMNA, or TNNT2 (78%). An additional 10.6% of patients had VUS. Genetic testing was rarely positive in older patients without a family history of DCM. Conversely in pediatric patients, family history did not increase the sensitivity of genetic testing. CONCLUSIONS:Using rigorous criteria for classifying DNA variants, mutations were identified in 17% of a diverse group of DCM index patients referred for clinical genetic testing. The low sensitivity of genetic testing in DCM reflects limitations in both current methodology and knowledge of DCM-associated genes. However, if mutations are identified, genetic testing can help guide family management.
journal_name
J Card Failjournal_title
Journal of cardiac failureauthors
Lakdawala NK,Funke BH,Baxter S,Cirino AL,Roberts AE,Judge DP,Johnson N,Mendelsohn NJ,Morel C,Care M,Chung WK,Jones C,Psychogios A,Duffy E,Rehm HL,White E,Seidman JG,Seidman CE,Ho CYdoi
10.1016/j.cardfail.2012.01.013subject
Has Abstractpub_date
2012-04-01 00:00:00pages
296-303issue
4eissn
1071-9164issn
1532-8414pii
S1071-9164(12)00036-Xjournal_volume
18pub_type
杂志文章abstract：BACKGROUND:Left ventricular assist device (LVAD) support as bridge to recovery (BTR) is uncommon for subjects with chronic heart failure. Myocardial recovery is more evident in recent onset nonischemic cardiomyopathy (ROCM); however, the prevalence of BTR in this subset has not been addressed. METHODS AND RESULTS:We e...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2012.08.001
更新日期：2012-10-01 00:00:00
abstract：BACKGROUND:Telemonitoring has been advocated as a way of decreasing costs and improving outcomes, but no study has looked at true Medicare payments and 30-day readmission rates in a randomized group of well treated patients. OBJECTIVE:The aim of this work was to analyze Medicare claims data to identify effects of home...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.cardfail.2014.04.016
更新日期：2014-07-01 00:00:00
abstract：BACKGROUND:Peak oxygen consumption (peak VO₂) and late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR) are prognostic in heart failure. We investigated whether LGE-CMR and peak VO₂combined had additive value in risk stratifying patients with nonischemic dilated cardiomyopathy (DCM). METHODS AND...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2014.08.005
更新日期：2014-11-01 00:00:00
abstract：:Quantitative descriptions of the mechanical restitution curve as a description of variability in ventricular performance with coupling interval in isolated tissue preparations are widely available. In humans, however, in vivo examination of the force-interval relationship is restricted to test pulse intervals shorter ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/1071-9164(95)90002-0
更新日期：1995-09-01 00:00:00
abstract：BACKGROUND:Congestive heart failure (CHF) and atrial fibrillation (AF), both of which cause morbidity and mortality, are mutually promoting diseases. We aimed to evaluate surgical AF ablation in CHF. METHODS AND RESULTS:Among 212 patients (age 69 +/- 8.8 years, 87% with persistent AF) undergoing concomitant left atria...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2007.04.011
更新日期：2007-09-01 00:00:00
abstract：:The authors have previously shown that the resistance ratio (RR) is increased in patients with congestive heart failure (CHF), and that the patients with the highest RRs have an increased mortality. The authors hypothesized that CHF patients with the lowest maximum oxygen consumption and the most impaired Weber functi...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/1071-9164(94)90005-1
更新日期：1994-10-01 00:00:00
abstract：BACKGROUND:The present study was designed to study the progression of heart failure in rabbits with catecholamine-induced cardiomyopathy. METHODS AND RESULTS:We investigated the effects of three repetitive applications (at 16-day intervals) of high-dose epinephrine (first infusion, 5 micrograms/kg/min for 60 minutes; ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/s1071-9164(99)90033-7
更新日期：1999-06-01 00:00:00
abstract：BACKGROUND:Survival of patients with congenital heart defects including increased right ventricular pressure load (ie, tetralogy of Fallot) or pulmonary hypertension is dependent on the function of the right ventricle (RV). RV remodeling has several effects with progressive transition from compensated status to heart f...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2020.02.006
更新日期：2020-07-01 00:00:00
abstract：BACKGROUND:Although there have been many studies on the effects of atrial fibrillation (AF) on cardiac function, few studies have been done on its effects on endothelial function. The present study was designed to examine the effects of AF on endothelial function in human subjects. METHODS AND RESULTS:Changes in forea...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1054/jcaf.2001.22107
更新日期：2001-03-01 00:00:00
abstract：BACKGROUND:The importance of repeated clinical assessments of patients with heart failure is widely accepted. The frequency of such follow-up is not established and is likely to depend on the natural history and variability of patients' health status and the availability and use of appropriate treatments. METHODS AND ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究
doi：10.1016/j.cardfail.2003.12.008
更新日期：2004-10-01 00:00:00
abstract：BACKGROUND:In patients with pulmonary arterial hypertension (PAH) the relationship between hemodynamic impairment experienced during daily activity and that during exercise testing is not known. METHODS AND RESULTS:Ten PAH patients received an implantable hemodynamic monitor that continuously recorded and stored right...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2014.04.019
更新日期：2014-07-01 00:00:00
abstract：OBJECTIVE:In chronic heart failure (HF), diuretic doses increase as the disease progresses, often after hospitalization for instability, and have been associated with worsening renal function and increased mortality. METHODS AND RESULTS:A prospective observational analysis of 183 patients in an advanced HF clinic stra...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2008.01.015
更新日期：2008-06-01 00:00:00
abstract：BACKGROUND:Epidemiological studies typically diagnose heart failure (HF) at the time of hospitalization, and have not evaluated the prevalence of HF symptoms in CKD patients without a prior HF diagnosis. METHODS AND RESULTS:We modified the Kansas City Cardiomyopathy Questionnaire (KCCQ) to detect and quantify symptoms...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2010.08.009
更新日期：2011-01-01 00:00:00
abstract：BACKGROUND:In patients admitted for heart failure (HF), unrecognized elevation of left ventricular end-diastolic pressure (LVEDP) at the time of discharge may have a role in the high rehospitalization rate for HF on follow-up. METHODS AND RESULTS:In a small, prospective study (n = 50), patients admitted for HF were ra...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.cardfail.2011.04.014
更新日期：2011-09-01 00:00:00
abstract：BACKGROUND:In the current era, where advanced heart failure (AHF) has become an American Board of Internal Medicine-certified subspecialty, new data are needed to benchmark and value levels of clinical effort performed by AHF specialists (AHFMDs). METHODS AND RESULTS:A 36-question survey was sent to 728 AHFMDs, member...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2015.08.340
更新日期：2015-11-01 00:00:00
abstract：BACKGROUND:Ventricular remodeling often occurs after myocardial infarction, yet the natural history remains unpredictable because of the chronicity of the process and therapeutic interventions involved. We induced cardiac dysfunction in an ovine model via selective microembolization of the circumflex coronary artery (L...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2003.08.013
更新日期：2004-04-01 00:00:00
abstract：BACKGROUND:For over a century, the dog model has been used widely in research studying cardiovascular physiology pertinent to humans. It has been specially applied, over the past 2 decades, in research on the pathophysiology and treatment of left ventricular (LV) remodeling and heart failure. METHODS AND RESULTS:Becau...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1054/jcaf.2002.129274
更新日期：2002-12-01 00:00:00
abstract：BACKGROUND:The clinical consequences of prehospital delay in heart failure (HF) patients are unknown. This study explores the relationship between prehospital delay of HF patients and length of hospital stay, plasma values of brain natriuretic peptides (BNP) as well as the association of delay with all-cause mortality,...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.cardfail.2011.12.007
更新日期：2012-03-01 00:00:00
abstract：BACKGROUND:The long-term effects of carvedilol on muscle sympathetic nerve activity (MSNA) and muscle blood flow at rest and exercise in patients with chronic heart failure (CHF) remain unknown. METHODS AND RESULTS:Twenty-six patients (New York Heart Association class II-III) were randomized to carvedilol or placebo. ...
journal_title：Journal of cardiac failure
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/j.cardfail.2004.03.006
更新日期：2004-12-01 00:00:00
abstract：BACKGROUND:Diabetes mellitus (DM) is a risk factor for mortality among patients with heart failure as well as for patients who undergo cardiothoracic surgery. However it is unknown whether DM is associated with increased mortality or major complications during continuous-flow left ventricular assist device (CF-LVAD) su...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2016.02.010
更新日期：2016-10-01 00:00:00
abstract：BACKGROUND:Some of the most frequent manifestations of heart involvement in human immunodeficiency virus (HIV) infection include right and left ventricular dysfunction. The pathogenesis remains obscure. METHODS AND RESULTS:This prospective clinical and echocardiographic study involved 181 patients at all stages of HIV...
journal_title：Journal of cardiac failure
pub_type： 临床试验,杂志文章
doi：10.1016/s1071-9164(98)90504-8
更新日期：1998-03-01 00:00:00
abstract：BACKGROUND:Myocardial recovery after ventricular assist devices (VAD) is rare but appears more common in nonischemic cardiomyopathies (NICM). We sought to evaluate left ventricular (LV) end diastolic diameter (LVEDD) for predicting recovery after VAD. METHODS AND RESULTS:NICM patients receiving long-term mechanical su...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2009.10.018
更新日期：2010-02-01 00:00:00
abstract：BACKGROUND:Numerous models predicting the risk of incident heart failure (HF) have been developed; however, evidence of their methodological rigor and reporting remains unclear. This study critically appraises the methods underpinning incident HF risk prediction models. METHODS AND RESULTS:EMBASE and PubMed were searc...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2017.03.005
更新日期：2017-09-01 00:00:00
abstract：OBJECTIVE:Disease management programs (DMPs) may reduce short-term readmission or death after heart failure (HF) hospitalization. We sought to determine if targeting of DMP to the highest-risk patients could improve efficiency. METHODS AND RESULTS:Patients (n = 412) admitted with HF were randomized to usual care or an...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.1016/j.cardfail.2019.01.015
更新日期：2019-05-01 00:00:00
abstract：OBJECTIVES:There have been no published recommendations about staffing needs for a heart failure (HF) clinic or an office setting focused on heart transplant. The goal of this survey was to understand the current staffing environment of HF, transplant, and mechanical circulatory support device (MCSD) programs in the Un...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究
doi：10.1016/j.cardfail.2011.04.001
更新日期：2011-05-01 00:00:00
abstract：:The aim of this study was to compare the effects on left ventricular function and exercise tolerance of a selective beta-antagonist (atenolol) with those of another selective beta 1-antagonist with vasodilator properties (nebivolol) in patients with ischemic left ventricular dysfunction but no overt congestive heart f...
journal_title：Journal of cardiac failure
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s1071-9164(96)80004-2
更新日期：1996-03-01 00:00:00
abstract：BACKGROUND:Fulminant myocarditis (FM) is a rare but life-threatening disease. Intravenous immunoglobulin (IVIG) is not recommended for acute or chronic myocarditis in Western nations owing to the lack of rigorous evidence, but it is widely used in other countries, including Japan. This nationwide retrospective cohort s...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2015.01.004
更新日期：2015-05-01 00:00:00
abstract：BACKGROUND:Clinical multistage risk assessment associated with electrocardiogram (ECG) and NT-proBNP may be a feasible strategy to screen hypertrophic cardiomyopathy (HCM). We investigated the effectiveness of a screening based on ECG and NT-proBNP in first-degree relatives of patients with HCM. METHODS AND RESULTS:A ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2012.04.005
更新日期：2012-07-01 00:00:00
abstract：:Since the introduction of biomarkers in the late 1980s, considerable research has been dedicated to their validation and application. As a result, many biomarkers are now commonly used in clinical practice. However, the role of biomarkers in the prediction of right ventricular failure (RVF) and in the prognostication ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2019.09.007
更新日期：2020-09-01 00:00:00
abstract：BACKGROUND:The aim of this study was to evaluate the effects of carvedilol therapy on left atrial (LA) function in patients with heart failure from nonischemic dilated cardiomyopathy. METHODS AND RESULTS:Thirty-five patients (42.4 +/- 13.5 years) in New York Heart Association functional Class II-III have been studied....
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2006.10.011
更新日期：2007-03-01 00:00:00
