Abstract:
:Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease-causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial clinical data or assessed the clinical implications of temporal changes in genetic testing results. Methods and Results We performed a retrospective analysis of all patients with primary DCM who presented to our institution between 2008 and 2018. Variants identified by genetic testing were reevaluated for pathogenicity on the basis of current guidelines for variant classification. A total of 73 patients with primary DCM presented to our institution and 63 (86%) were probands that underwent cardiomyopathy-specific gene testing. A disease-causing variant was identified in 19 of 63 (30%) of cases, with at least 9/19 (47%) variants occurring de novo. Positive family history was not associated with identification of a causal variant. Reclassification of variants resulted in the downgrading of a large proportion of variants of uncertain significance and did not identify any new disease-causing variants. Conclusions Clinical genetic testing identifies a causal variant in one third of pediatric patients with primary DCM. Variant reevaluation significantly decreased the number of variants of uncertain significance, but a large burden of variants of uncertain significance remain. These results highlight the need for periodic reanalysis of genetic testing results, additional investigation of genotype-phenotype correlations in DCM through large, multicenter genetic studies, and development of improved tools for functional characterization of variants of uncertain significance.
journal_name
J Am Heart Assocjournal_title
Journal of the American Heart Associationauthors
Quiat D,Witkowski L,Zouk H,Daly KP,Roberts AEdoi
10.1161/JAHA.120.016195subject
Has Abstractpub_date
2020-06-02 00:00:00pages
e016195issue
11issn
2047-9980journal_volume
9pub_type
杂志文章abstract:BACKGROUND:We previously identified peritoneal B1a cells that secrete natural IgM as a key atheroprotective B cell subset. However, the molecules that activate atheroprotective B1a cells are unknown. Here, we investigated whether Toll-like receptors (TLRs) TLR2, TLR4, and TLR9 expressed by B1a cells are required for Ig...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.115.002947
更新日期:2016-11-14 00:00:00
abstract::Background Apolipoprotein CIII (apo CIII ) is a crucial player in triglyceride-rich lipoprotein metabolism, but may also act pleiotropically, provoking inflammatory responses and stimulating coagulation. Elevated apo CIII plasma levels have been associated with increased activity of coagulation factors. Since these fe...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.118.010973
更新日期:2019-01-22 00:00:00
abstract:BACKGROUND:Although circumferential pulmonary vein isolation (CPVI) catheter ablation may not be sufficient for long-standing persistent atrial fibrillation (L-PeAF), it is not clear which ablation strategy is beneficial in addition to CPVI. We sought to investigate whether additional complex fractionated atrial electr...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,随机对照试验
doi:10.1161/JAHA.116.004811
更新日期:2017-02-07 00:00:00
abstract::Background We aimed to determine the change in treatment strategies and times to treatment over the first 5 years of the Mission: Lifeline program. Methods and Results We assessed pre- and in-hospital care and outcomes from 2008 to 2012 for patients with ST -segment-elevation myocardial infarction at US hospitals, usi...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.118.008096
更新日期:2019-01-08 00:00:00
abstract:BACKGROUND:Data are limited regarding outcomes of deferred lesions in patients with angiographically insignificant stenosis but low fractional flow reserve (FFR). We investigated the natural history of angiographically insignificant stenosis with low FFR among patients who underwent routine 3-vessel FFR measurement. M...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.117.006071
更新日期:2017-08-22 00:00:00
abstract:BACKGROUND:Atrial fibrillation (AF) is a common, growing, and costly medical condition. We aimed to evaluate the impact of a management algorithm for symptomatic AF that used an emergency department observation unit on hospital admission rates and patient outcomes. METHODS AND RESULTS:This retrospective cohort study c...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.115.002984
更新日期:2016-02-08 00:00:00
abstract:BACKGROUND:Tissue Doppler index E/e' is used clinically and in multidisciplinary research for estimation of left ventricular filling pressure (LVFP) and diastolic dysfunction (DD)/heart failure with preserved ejection fraction (HFpEF). Its diagnostic accuracy is not well studied. METHODS AND RESULTS:From the PubMed, S...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,meta分析,评审
doi:10.1161/JAHA.115.002530
更新日期:2016-01-25 00:00:00
abstract::Background Normal-flow, low-gradient severe aortic stenosis (NF-LG-SAS), defined by aortic valve area <1 cm2, mean gradient <40 mm Hg, and indexed stroke volume >35 mL/m2, is the most prevalent form of low-gradient aortic stenosis (AS). However, the true severity of AS and the management of NF-LG-SAS are controversial...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.119.012301
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Roux-en-Y gastric bypass (RYGB) reduces obesity-associated comorbidities and cardiovascular mortality. RYGB improves endothelial dysfunction, reducing c-Jun N-terminal kinase (JNK) vascular phosphorylation. JNK activation links obesity with insulin resistance and endothelial dysfunction. Herein, we examined ...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.117.006441
更新日期:2017-11-14 00:00:00
abstract::Background Both genetic and nongenetic factors can predispose individuals to cardiovascular risk. Finding ways to alter these predispositions is important for cardiovascular disease prevention. Methods and Results We used a novel whole-genome approach to estimate the genetic and nongenetic effects on-and hence their p...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.015661
更新日期:2020-04-21 00:00:00
abstract::Background A previous study reported histologic abnormalities in the pulmonary artery ( PA ) of patients with tetralogy of Fallot ( TOF ). However, the potential effect of these anatomical findings on PA vascular function has not been studied. We hypothesized that TOF patients had abnormal PA vascular function, and th...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.118.011731
更新日期:2019-06-18 00:00:00
abstract::Background Delayed enhancement ( DE ) on magnetic resonance imaging is associated with ventricular arrhythmias, adverse events, and worse left ventricular mechanics. We investigated the impact of DE on cardiac resynchronization therapy ( CRT ) outcomes and the effect of CRT optimization. Methods and Results We studied...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.118.009559
更新日期:2018-12-04 00:00:00
abstract:BACKGROUND:Although generic medications are approved based on bioequivalence with brand-name medications, there remains substantial concern regarding their clinical effectiveness and safety. Lipitor(®), available as generic atorvastatin, is one of the most commonly prescribed statins. Therefore, we compared the effecti...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.116.003350
更新日期:2016-04-19 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.115.002447
更新日期:2016-02-23 00:00:00
abstract::Background Exposure to fine airborne particulate matter ( PM 2.5) induces quantitative and qualitative defects in bone marrow-derived endothelial progenitor cells of mice, and similar outcomes in humans may contribute to vascular dysfunction and the cardiovascular morbidity and mortality associated with PM 2.5 exposur...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.013041
更新日期:2019-07-02 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.117.007572
更新日期:2018-03-07 00:00:00
abstract::Background In complex congenital heart disease patients such as those with tetralogy of Fallot, the right ventricle (RV) is subject to pressure overload, leading to RV hypertrophy and eventually RV failure. The mechanisms that promote the transition from stable RV hypertrophy to RV failure are unknown. We evaluated th...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.017835
更新日期:2021-01-30 00:00:00
abstract:BACKGROUND:Women have high rates of peripheral artery disease (PAD) despite fewer cardiovascular disease (CVD) risk factors, compared to men. We sought to determine the gender-specific prevalence of low ankle brachial index (ABI) and the relationship to C-reactive protein (CRP) levels and CVD risk factors in the Life L...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.113.000651
更新日期:2014-03-13 00:00:00
abstract::Background This study was performed to characterize the metabolic, functional, and structural cardiac changes in a canine model of radiation-induced heart disease by serial in vivo imaging and ex vivo analyses. Methods and Results Thirty-six dogs were randomly assigned to control or irradiated groups at 3 time points ...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.016875
更新日期:2020-09-15 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.017159
更新日期:2020-10-20 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.017087
更新日期:2020-12-15 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.118.008831
更新日期:2019-12-17 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.117.008190
更新日期:2018-04-12 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.017278
更新日期:2020-09-01 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1161/JAHA.117.007215
更新日期:2017-12-02 00:00:00
abstract::The primary goal of the initial ECG evaluation of every wide complex tachycardia is to determine whether the tachyarrhythmia has a ventricular or supraventricular origin. The answer to this question drives immediate patient care decisions, ensuing clinical workup, and long-term management strategies. Thus, the importa...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.120.016598
更新日期:2020-06-02 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,评审
doi:10.1161/JAHA.116.003582
更新日期:2016-06-17 00:00:00
abstract::See Editorial by Cenko et al. ...
journal_title:Journal of the American Heart Association
pub_type: 评论,社论
doi:10.1161/JAHA.118.011835
更新日期:2019-02-19 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2013-09-03 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
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更新日期:2017-01-21 00:00:00