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:Heightened activity of the sympathetic nervous system in heart failure patients is a major contributor to disease progression and death. I-123 metaiodobenzylguanidine (MIBG) provides an accurate, noninvasive method to assess cardiac sympathetic nerve activity. METHODS:Thirty-seven patients with New York Hea...
journal_title：Journal of cardiac failure
pub_type： 临床试验,杂志文章
doi：10.1054/s1071-9164(03)00134-9
更新日期：2003-10-01 00:00:00
abstract：:The complexity of standard medical treatment for heart failure is growing, and such therapy typically involves 5 or more different medications. Given these pressures, there is increasing interest in harnessing cardiovascular biomarkers for clinical application to more effectively guide diagnosis, risk stratification, ...
journal_title：Journal of cardiac failure
pub_type：
doi：10.1016/j.cardfail.2013.05.012
更新日期：2013-08-01 00:00:00
abstract：:Although atrial fibrillation is common in patients with heart failure, patients with atrial fibrillation are often excluded from congestive heart failure trials or are not analyzed separately. Consequently, while the effect of angiotensin-converting enzyme inhibitors in patients with sinus rhythm is well established, ...
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(05)80004-1
更新日期：1995-12-01 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：BACKGROUND:Cardiac resynchronization therapy (CRT) is now an established therapy for patients with advanced heart failure with electromechanical delay, although nonresponders have been observed. Because natriuretic peptides are relevant markers to reflect the severity of heart failure and filling pressure of cardiac ch...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2005.04.007
更新日期：2005-06-01 00:00:00
abstract：BACKGROUND:A hallmark characteristic of heart failure (HF) is reduced physical activity (PA) patterns. The relationship between key cardiopulmonary exercise testing (CPX) variables and PA patterns has not been investigated. Therefore, we evaluated PA patterns in patients with ischemic HF and its relationship to peak ox...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2013.08.002
更新日期：2013-09-01 00:00:00
abstract：BACKGROUND:Corin is a serine protease that cleaves pro-atrial and pro-B-type natriuretic peptides into biologically active hormones. The relationship between soluble plasma corin levels, plasma natriuretic peptide levels, myocardial structure and performance, and long-term clinical outcomes in the setting of chronic sy...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2010.03.010
更新日期：2010-08-01 00:00:00
abstract：:On October 17, 1849, Poland's greatest composer, Frédéric Chopin (1810-1849) died aged 39. His cause of death remains unknown. An investigation of the documental sources was performed to reconstruct the medical history of the artist. Since his earliest years, his life had been dominated by poor health. Recurrent episo...
journal_title：Journal of cardiac failure
pub_type： 传,历史文章
doi：10.1016/j.cardfail.2018.03.009
更新日期：2018-05-01 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：: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：:Diuretic resistance in heart failure is defined as a state in which diuretic response is diminished or lost before the therapeutic goal of relief from congestion has been reached. Diuretic resistance is very common and is associated with poor outcomes. Over the past decade, several new drugs and devices targeting deco...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2014.06.353
更新日期：2014-09-01 00:00:00
abstract：:Heart failure is a major public health problem and is increasing in incidence throughout the industrialized world. Despite recent advances in pharmacotherapy, the overall mortality remains high and largely unchanged. Ultrafiltration has received increased attention in the treatment of acute decompensated congestive he...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2008.07.230
更新日期：2008-11-01 00:00:00
abstract：:Beta-adrenergic blocking agents are standard treatment for patients with mild-to-moderate heart failure. When patients receiving beta-blockers decompensate they often need treatment with a positive inotropic agent. The beta-agonist dobutamine may not produce much increase in cardiac output during full-dose beta-blocke...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1054/jcaf.2001.26655
更新日期：2001-06-01 00:00:00
abstract：BACKGROUND:Exercise training improves endothelium-dependent vasodilation in animals. This study was designed to determine whether forearm exercise training improves endothelium-dependent vasodilation in control subjects and patients with heart failure, a disease associated with abnormal endothelium-dependent vasodilati...
journal_title：Journal of cardiac failure
pub_type： 临床试验,杂志文章
doi：10.1016/s1071-9164(98)80006-7
更新日期：1998-09-01 00:00:00
abstract：:Pathologic left ventricular (LV) remodeling as described by adverse changes in LV mass, volume, geometry, and composition in response to mechanical and systemic neurohormonal activation portends a poor prognosis in patients with underlying LV systolic dysfunction. Conversely, reversal of LV remodeling is associated wi...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2016.03.017
更新日期：2016-10-01 00:00:00
abstract：BACKGROUND:Coenzyme Q10 (CoQ10) is essential for ATP generation and has antioxidant properties. Decreased CoQ10 levels have been reported in human heart failure (CHF), but it remains unclear if this is a conserved feature of CHF. The objective of the study was to determine if tachycardia-induced CHF in the dog is assoc...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1054/jcaf.2000.8839
更新日期：2000-09-01 00:00:00
abstract：:Structural remodeling of the left ventricle involves myocyte growth and matrix changes that result in chamber enlargement, contractile dysfunction and dyssynchrony. Clinical and experimental data document that these structural changes correlate with progressive worsening of the syndrome of heart failure, that the chan...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2004.09.007
更新日期：2004-12-01 00:00:00
abstract：BACKGROUND:Digitalis glycosides are known to improve the hemodynamic and neurohormonal perturbations that contribute to heart failure (HF)-induced renal dysfunction (RD). The objective of this study was to determine if randomization to digoxin is associated with improvement in renal function (IRF) and to evaluate if pa...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.cardfail.2013.03.002
更新日期：2013-05-01 00:00:00
abstract：BACKGROUND:Cognitive impairment is found in a significant proportion of patients with heart failure (HF). Although cognitive impairment may be a consequence of HF, early signs of cognitive impairment may also indicate subclinical vascular disease, and thus a risk factor for future cardiovascular events. METHODS AND RE...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究
doi：10.1016/j.cardfail.2016.11.002
更新日期：2017-01-01 00:00:00
abstract：BACKGROUND:Ventilatory efficiency, commonly assessed by the minute ventilation (VE)-carbon dioxide production (VCO2) slope, has proven to be a strong prognostic marker in the heart failure (HF) population. Recently, the oxygen uptake efficiency slope (OUES) has demonstrated prognostic value, but additional comparisons ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究
doi：10.1016/j.cardfail.2007.03.004
更新日期：2007-08-01 00:00:00
abstract：BACKGROUND:Large-scale clinical trials have demonstrated the benefits of cardiac resynchronization therapy (CRT) in patients with New York Heart Association (NYHA) Class III/IV heart failure, systolic left ventricular dysfunction, and a wide QRS. However, additional patient groups may also benefit from CRT. METHODS AN...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,meta分析
doi：10.1016/j.cardfail.2009.12.018
更新日期：2010-05-01 00:00:00
abstract：BACKGROUND:Urinary liver-type fatty acid-binding protein (L-FABP) is a potential biomarker for acute kidney injury, and it in turn increases cardiovascular mortality. We tested whether the urinary L-FABP level predicted short- and mid-term outcomes in patients with acute heart failure. METHODS AND RESULTS:We enrolled ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2018.07.003
更新日期：2018-08-01 00:00:00
abstract：BACKGROUND:We recently reported that serum levels of pentosidine, one of the well-defined advanced glycation end products (AGE), was an independent prognostic factor for heart failure. Receptor for AGEs (RAGE) is expressed in a variety of tissues, and RAGE has a C-truncated secretory isoform of the receptor protein, te...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2007.10.019
更新日期：2008-03-01 00:00:00
abstract：BACKGROUND:The abnormalities in coronary hemodynamics in systolic heart failure are frequent. Myocardial oxygen demand and consumption are increased and myocardial perfusion is also impaired, which may result in myocardial ischemia, necrosis, and apoptosis. This is potentially a contributing factor for progressive hear...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,评审
doi：10.1016/j.cardfail.2009.01.001
更新日期：2009-03-01 00:00:00
abstract：BACKGROUND:Frailty reflects decreased resilience to physiological stressors; its prevalence and prognosis are not fully defined in heart failure with preserved ejection fraction (HFpEF). METHODS:The Short Physical Performance Battery (SPPB) was prospectively obtained in 114 outpatients with HFpEF. The SPPB tests gait ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2018.09.002
更新日期：2019-01-01 00:00:00
abstract：BACKGROUND:Development of heart failure greatly reduces life expectancy. Accurate estimates of the risk of dying are needed in clinical practice and for risk adjustment in observational studies. A relatively simple risk score has been developed to determine the risk of dying within 1-year of an admission for heart fail...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2006.02.004
更新日期：2006-05-01 00:00:00
abstract：BACKGROUND:Circulating pro-angiogenic cells (PACs) contribute to vascular and myocardial regeneration. A low level of PACs is associated with worse outcome in patients with coronary heart disease. However, little is known about PACs in heart failure (HF). METHODS AND RESULTS:Blood was sampled at baseline in 111 patien...
journal_title：Journal of cardiac failure
pub_type： 杂志文章,多中心研究
doi：10.1016/j.cardfail.2009.05.011
更新日期：2009-11-01 00:00:00
abstract：BACKGROUND:Therapies for heart failure (HF) with a low ejection fraction (EF) have delayed disease progression and prolonged survival, but the implications of these therapies on the end stages of HF have not been examined. METHODS AND RESULTS:Patients seen by the Brigham and Women's cardiomyopathy service with an EF <...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2005.08.001
更新日期：2006-02-01 00:00:00
abstract：OBJECTIVE:To elucidate the prevalence and role of β1 adrenergic receptor autoantibodies (β1AR-AAb) belonging to the immunoglobulin (Ig)G3 subclass in patients with heart failure (HF) treated with β-adrenergic blockers. BACKGROUND:Several cardiac AAbs have been reported to be present in sera from patients with dilated ...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2016.03.005
更新日期：2016-06-01 00:00:00
abstract：BACKGROUND:Insulin resistance is present in the setting of congestive heart failure. Glucagon-like peptide-1 (GLP-1) is a naturally occurring incretin with both insulinotropic and insulinomimetic properties. METHODS AND RESULTS:We investigated the safety and efficacy of a 5-week infusion of GLP-1 (2.5 pmol/kg/min) add...
journal_title：Journal of cardiac failure
pub_type： 杂志文章
doi：10.1016/j.cardfail.2006.08.211
更新日期：2006-12-01 00:00:00
