当前位置： SCI文献检索 > HEART RHYTHM期刊下所有文献 > Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy.

Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy.

Abstract：

BACKGROUND:The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized. OBJECTIVE:The purpose of this study was to examine the use of genetic testing and yield of cascade screening across diverse regions in the United States and to evaluate obstacles to screening in multipayer systems. METHODS:An institutional review board-approved 6 United States pediatric center retrospective chart review of LQTS and HCM patients from 2008-2014 was conducted for (1) genetic test completion and results and (2) family cascade screening acceptance, methods, results, and barriers. RESULTS:The families of 315 index patients (mean age 9.0 ± 5.8 years) demonstrated a 75% (254) acceptance of cascade screening. The yield of relative screening was 39% (232/601), an average of 0.91 detected per family. Genetic testing was less utilized in HCM index patients and relatives. Screening participation was greater in families of gene-positive index patients (88%) (P <.001) compared to gene-negative patients (53%). Cascade method utilization: Cardiology-only 45%, combined genetic and cardiology 39%, and genetic only 16%. Screening yield by method: combined 57%, genetic-only 29%, and cardiology-only 20%. Family decisions were the leading barriers to cascade screening (26% lack of followthrough and 26% declined), whereas insurance (6%) was the least cited barrier. CONCLUSION:Family participation in cascade screening is high, but the greatest barriers are family mediated (declined, lack of followthrough). Positive proband genetic testing led to greater participation. Cardiology-only screening was the most utilized method, but combined cardiology and genetic screening had the highest detection.

journal_name

Heart Rhythm

journal_title

Heart rhythm

authors

Knight LM,Miller E,Kovach J,Arscott P,von Alvensleben JC,Bradley D,Valdes SO,Ware SM,Meyers L,Travers CD,Campbell RM,Etheridge SP

doi

10.1016/j.hrthm.2019.06.015

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

106-112

issue

1

eissn

1547-5271

issn

1556-3871

pii

S1547-5271(19)30572-7

journal_volume

17

pub_type

杂志文章

相关文献

HEART RHYTHM文献大全
  • Electrocardiographic and electrophysiologic characteristics of anteroseptal, midseptal, and posteroseptal accessory pathways.

    abstract：BACKGROUND:Approximately 30% of all accessory pathways (APs) are located in the septal area, and understanding the electrocardiographic and electrophysiologic of these APs is crucial for safe and effective ablation of these pathways. OBJECTIVE:In this study, the electrocardiographic and electrophysiologic characterist...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2007.07.009

    authors： Haghjoo M,Kharazi A,Fazelifar AF,Alizadeh A,Emkanjoo Z,Sadr-Ameli MA

    更新日期：2007-11-01 00:00:00

  • Relationship among complex signals, short cycle length activity, and dominant frequency in patients with long-lasting persistent AF: a high-density epicardial mapping study in humans.

    abstract：BACKGROUND:Complex fractionated atrial electrograms (CFAEs) and regions of high dominant frequency (DF) both may identify sites critical to the maintenance of atrial fibrillation (AF). CFAEs may be defined by either (1) complex multicomponent electrograms (EGMs) and/or continuous electrical activity (multicomponent/con...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2011.05.021

    authors： Lee G,Roberts-Thomson K,Madry A,Spence S,Teh A,Heck PM,Kumar S,Kistler PM,Morton JB,Sanders P,Kalman JM

    更新日期：2011-11-01 00:00:00

  • Vagal activity modulates spontaneous augmentation of J-wave elevation in patients with idiopathic ventricular fibrillation.

    abstract：BACKGROUND:Although J-wave elevation in the inferolateral leads could be related to idiopathic ventricular fibrillation (IVF), little is known about the pathophysiologic characteristics of J-wave elevation in patients with IVF. OBJECTIVE:This study aimed to determine the relationship between augmentation of J-wave ele...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2011.09.055

    authors： Mizumaki K,Nishida K,Iwamoto J,Nakatani Y,Yamaguchi Y,Sakamoto T,Tsuneda T,Kataoka N,Inoue H

    更新日期：2012-02-01 00:00:00

  • Ablation Index as a predictor of long-term efficacy in premature ventricular complex ablation: A regional target value analysis.

    abstract：BACKGROUND:The effectiveness of radiofrequency catheter ablation (RFCA) in atrial tachyarrhythmias correlates with lesion transmurality. Ablation Index (AI) is an index that incorporates contact force, time, and radiofrequency power simultaneously and is able to predict lesion size and outcomes in RFCA of atrial fibril...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.hrthm.2019.01.005

    authors： Casella M,Gasperetti A,Gianni C,Zucchelli G,Notarstefano P,Al-Ahmad A,Burkhardt JD,Soldati E,Della Rocca D,Catto V,Majocchi B,Carbucicchio C,Bongiorni MG,Dello Russo A,Natale A,Tondo C

    更新日期：2019-06-01 00:00:00

  • Arrhythmia triggers in heart failure: the smoking gun of [Ca2+]i dysregulation.

    abstract：:Among the most serious problems associated with heart failure is the increased likelihood of life-threatening arrhythmias. Both triggered and reentrant arrhythmias in heart failure may arise as a result of aberrant intracellular Ca cycling. This article presents some new ideas, based on recent studies, about how alter...

    journal_title：Heart rhythm

    pub_type： 杂志文章,评审

    doi：10.1016/j.hrthm.2011.06.012

    authors： Aistrup GL,Balke CW,Wasserstrom JA

    更新日期：2011-11-01 00:00:00

  • Ciprofloxacin-induced acquired long QT syndrome.

    abstract：:Quinolone antibiotics have potentially serious proarrhythmic effects. The effects on intracardiac potassium channels result in QT interval prolongation, leading to torsades de pointes. Evidence suggests fluoroquinolones cause QT-mediated proarrhythmia, and weak evidence links ciprofloxacin with QT-mediated arrhythmias...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2004.06.020

    authors： Prabhakar M,Krahn AD

    更新日期：2004-11-01 00:00:00

  • Incidence and predictors of cardiac perforation after permanent pacemaker placement.

    abstract：BACKGROUND:Pericardial effusion, a sign of cardiac perforation, may complicate permanent pacemaker placement. Risk factors for development of post-permanent pacemaker effusion have not been evaluated. OBJECTIVES:The purpose of this study was to determine the predictors of symptomatic pericardial effusion after permane...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2005.06.011

    authors： Mahapatra S,Bybee KA,Bunch TJ,Espinosa RE,Sinak LJ,McGoon MD,Hayes DL

    更新日期：2005-09-01 00:00:00

  • Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

    abstract：BACKGROUND:Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively). OBJECTIVES:The purpose of this study was to evaluate the extent of genotypic and phenotypic heterog...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2006.03.025

    authors： Tester DJ,Arya P,Will M,Haglund CM,Farley AL,Makielski JC,Ackerman MJ

    更新日期：2006-07-01 00:00:00

  • Subclavian venoplasty by the implanting physicians in 373 patients over 11 years.

    abstract：BACKGROUND:The need to add a lead(s) despite subclavian/innominate obstruction is increasing. Subclavian venoplasty may be a good alternative to the commonly employed options; however, there are few reports in the literature, and all are by interventional radiologists. OBJECTIVE:To describe the procedural details, res...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2010.12.014

    authors： Worley SJ,Gohn DC,Pulliam RW,Raifsnider MA,Ebersole BI,Tuzi J

    更新日期：2011-04-01 00:00:00

  • Ridge-related reentry despite apparent bidirectional mitral isthmus block.

    abstract：BACKGROUND:Verification of bidirectional block is important for mitral isthmus (MI) ablation. However, recurrent perimitral reentry exists despite apparently MI block. OBJECTIVE:The purpose of this study was to identify and investigate the characteristics of the ridge breakthrough despite apparent bidirectional MI blo...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2016.06.018

    authors： Jiang CX,Dong JZ,Long DY,Yu RH,Tang RB,Sang CH,Ning M,Li SN,Guo XY,Du X,Bai R,Liu N,Wu JH,Ma CS

    更新日期：2016-09-01 00:00:00

  • Spectral analysis during sinus rhythm predicts an abnormal atrial substrate in patients with paroxysmal atrial fibrillation.

    abstract：BACKGROUND:Regions of rapid and multiple deflections can be identified with high dominant frequency (DF) during sinus rhythm (SR). These areas may play a role in the perpetuation of atrial fibrillation (AF) and indicate an atrial substrate abnormality. OBJECTIVE:The purpose of this study was to investigate the atrial ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2008.03.039

    authors： Lin YJ,Kao T,Tai CT,Chang SL,Lo LW,Tuan TC,Udyavar AR,Hu YF,Tso HW,Higa S,Chen SA

    更新日期：2008-07-01 00:00:00

  • Mechanisms of VF maintenance: wandering wavelets, mother rotors, or foci.

    abstract：:Ventricular fibrillation (VF), despite its declining incidence as a cause of sudden cardiac death, is still a major health problem. The underlying mechanisms for the maintenance of VF are still disputed. Studies suggest that VF is unlikely one static mechanism but rather a dynamic process of electrical derangement tha...

    journal_title：Heart rhythm

    pub_type： 杂志文章,评审

    doi：10.1016/j.hrthm.2008.11.005

    authors： Tabereaux PB,Dosdall DJ,Ideker RE

    更新日期：2009-03-01 00:00:00

  • Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases.

    abstract：BACKGROUND:Genetic testing for long QT syndrome (LQTS) has been available in a research setting for the past decade, and a commercial test has recently become available. However, the costs and effectiveness of genetic testing have not been estimated. OBJECTIVES:The purpose of this study was to conduct a cost-effective...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2005.08.026

    authors： Phillips KA,Ackerman MJ,Sakowski J,Berul CI

    更新日期：2005-12-01 00:00:00

  • The effect of vagally induced dispersion of action potential duration on atrial arrhythmogenesis.

    abstract：OBJECTIVE:The purpose of this study is to ascertain the effects of spatially variable ACh distributions on arrhythmogenesis in a morphologically realistic computer model of canine atria. BACKGROUND:Vagal stimulation releases acetylcholine (ACh), which causes a dose-dependent reduction in action potential duration (APD...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2004.03.077

    authors： Vigmond EJ,Tsoi V,Kuo S,Arevalo H,Kneller J,Nattel S,Trayanova N

    更新日期：2004-09-01 00:00:00

  • Right bundle branch block-type wide QRS complex tachycardia with a reversed R/S complex in lead V6: Development and validation of electrocardiographic differentiation criteria.

    abstract：BACKGROUND:Differentiation of supraventricular tachycardia (SVT) with a right bundle branch block (RBBB) pattern from ventricular tachycardia (VT) is difficult, particularly when the R/S ratio in lead V6 is below 1.0. OBJECTIVE:We sought to investigate the electrocardiographic criteria for distinguishing between these...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2020.08.023

    authors： Kim M,Kwon CH,Lee JH,Hwang KW,Choi HO,Kim YG,Lee KN,Ahn J,Park HS,Nam GB

    更新日期：2020-09-11 00:00:00

  • Evidence of 2 conduction exits of the moderator band: Findings from activation and pace mapping study.

    abstract：BACKGROUND:The moderator band (MB) is an endocavitary structure with only 2 exits to the bulk of the ventricular myocardium. Whether this may lead to specific electrophysiological characteristics remains unknown. OBJECTIVE:The purpose of this study was to investigate electrocardiographic (ECG), activation, and pace ma...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2020.06.014

    authors： Jiang CX,Long DY,Li MM,Sang CH,Tang RB,Wang W,Li SN,Guo XY,Bai R,Du X,Dong JZ,Ma CS

    更新日期：2020-11-01 00:00:00

  • Cardiac resynchronization therapy in pediatric congenital heart disease: insights from noninvasive electrocardiographic imaging.

    abstract：BACKGROUND:Electrocardiographic imaging (ECGI) is a novel electrophysiologic imaging modality that may help guide patient selection and lead placement for cardiac resynchronization therapy (CRT). OBJECTIVE:The purpose of this study was to apply noninvasive ECGI to pediatric heart failure patients with congenital heart...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.04.017

    authors： Silva JN,Ghosh S,Bowman TM,Rhee EK,Woodard PK,Rudy Y

    更新日期：2009-08-01 00:00:00

  • Arrhythmogenicity of weight-loss supplements marketed on the Internet.

    abstract：BACKGROUND:We examined nonprescription weight-loss supplements marketed on the Internet for ingredients with potential arrhythmogenic and life-threatening cardiac adverse effects. OBJECTIVE:We aimed to define the risks of life-threatening cardiac adverse effects that are associated with weight-loss supplements markete...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.02.021

    authors： Nazeri A,Massumi A,Wilson JM,Frank CM,Bensler M,Cheng J,Saeed M,Rasekh A,Razavi M

    更新日期：2009-05-01 00:00:00

  • Syncope in Brugada syndrome: prevalence, clinical significance, and clues from history taking to distinguish arrhythmic from nonarrhythmic causes.

    abstract：BACKGROUND:Syncope in Brugada syndrome (BrS) patients is a sign of increased risk for sudden cardiac death and usually is ascribed to cardiac arrhythmias. However, syncope often occurs in the general population, mostly from nonarrhythmic causes (eg, reflex syncope). OBJECTIVE:The purpose of this study was to distingui...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2014.10.014

    authors： Olde Nordkamp LR,Vink AS,Wilde AA,de Lange FJ,de Jong JS,Wieling W,van Dijk N,Tan HL

    更新日期：2015-02-01 00:00:00

  • Fungal infection of implantable cardioverter-defibrillators: case series of five patients managed over 22 years.

    abstract：BACKGROUND:With the increasing use of implantable cardioverter-defibrillators (ICDs), device complications are becoming more common. Fungal-related ICD infections have rarely been reported, and little is known about the presentation, prevalence, and treatment options for these morbid infections. OBJECTIVES:The purpose...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2006.04.012

    authors： Ho IC,Milan DJ,Mansour MC,Mela T,Guy ML,Ruskin JN,Ellinor PT

    更新日期：2006-08-01 00:00:00

  • n-3 Polyunsaturated fatty acids alter expression of fibrotic and hypertrophic genes in a dog model of atrial cardiomyopathy.

    abstract：BACKGROUND:We previously showed that omega-3 polyunsaturated fatty acids (PUFAs) reduce vulnerability to atrial fibrillation (AF). The mechanisms underlying this effect are unknown. OBJECTIVE:The purpose of this study was to use a genome-wide approach to identify gene expression profiles involved in a new model of AF ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.12.016

    authors： Ramadeen A,Laurent G,dos Santos CC,Hu X,Connelly KA,Holub BJ,Mangat I,Dorian P

    更新日期：2010-04-01 00:00:00

  • Impact of the arrhythmogenic potential of long lines of conduction slowing at the pulmonary vein area.

    abstract：BACKGROUND:Areas of conduction delay (CD) or conduction block (CB) are associated with higher recurrence rates after ablation therapy for atrial fibrillation (AF). OBJECTIVE:Thus far, there are no reports on the quantification of the extensiveness of CD and CB at the pulmonary vein area (PVA) and their clinical releva...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2018.10.027

    authors： Mouws EMJP,van der Does LJME,Kik C,Lanters EAH,Teuwen CP,Knops P,Bogers AJJC,de Groot NMS

    更新日期：2019-04-01 00:00:00

  • The effect of reverse remodeling on long-term survival in mildly symptomatic patients with heart failure receiving cardiac resynchronization therapy: results of the REVERSE study.

    abstract：BACKGROUND:Cardiac resynchronization therapy (CRT) reduces mortality, improves functional status, and induces reverse left ventricular remodeling in selected populations with heart failure (HF). The magnitude of reverse remodeling predicts survival with many HF medical therapies. However, there are few studies assessin...

    journal_title：Heart rhythm

    pub_type： 杂志文章,多中心研究,随机对照试验

    doi：10.1016/j.hrthm.2014.11.014

    authors： Gold MR,Daubert C,Abraham WT,Ghio S,St John Sutton M,Hudnall JH,Cerkvenik J,Linde C

    更新日期：2015-03-01 00:00:00

  • Of founder populations, long QT syndrome, and destiny.

    abstract：:Founder populations, characterized by a single ancestor affected by long QT syndrome (LQTS) and by a large number of individuals and families who all are related to the ancestor and thereby carry the same disease-causing mutation, represent the ideal human model for studying the role of "modifier genes" in LQTS. This ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2009.08.036

    authors： Brink PA,Schwartz PJ

    更新日期：2009-11-01 00:00:00

  • Heart failure enhances susceptibility to arrhythmogenic cardiac alternans.

    abstract：BACKGROUND:Although heart failure (HF) is closely associated with susceptibility to sudden cardiac death (SCD), the mechanisms linking contractile dysfunction to cardiac electrical instability are poorly understood. Cardiac alternans has also been closely associated with SCD, and has been linked to a mechanism for ampl...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2008.11.008

    authors： Wilson LD,Jeyaraj D,Wan X,Hoeker GS,Said TH,Gittinger M,Laurita KR,Rosenbaum DS

    更新日期：2009-02-01 00:00:00

  • Outcomes of catheter ablation of anteroseptal and midseptal accessory pathways in pediatric patients.

    abstract：BACKGROUND:Outcomes for catheter ablation of accessory pathways in pediatric patients have steadily improved, with the exception of pathways located in the anteroseptal (AS) and midseptal (MS) regions, where success is limited by the close proximity of normal atrioventricular conduction. OBJECTIVE:The purpose of this ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2019.12.008

    authors： Kovach JR,Mah DY,Abrams DJ,Alexander ME,Cecchin F,Triedman JK,Walsh EP

    更新日期：2020-05-01 00:00:00

  • Morphologic remodeling of left atrial appendage in patients with atrial fibrillation.

    abstract：BACKGROUND:Left atrial appendage (LAA) has recently been of significant focus because of the development of the LAA closure device. OBJECTIVE:The purpose of this study was to test the hypothesis that atrial fibrillation (AF) leads to a morphologic change in the LAA and to investigate the characteristics of LAA morphol...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2016.06.009

    authors： Kishima H,Mine T,Takahashi S,Ashida K,Ishihara M,Masuyama T

    更新日期：2016-09-01 00:00:00

  • Value of cardiac magnetic resonance imaging and programmed ventricular stimulation in patients with frequent premature ventricular complexes undergoing radiofrequency ablation.

    abstract：BACKGROUND:Frequent premature ventricular complexes (PVCs) have been associated with increased mortality. However, the optimal approach to the risk stratification of these patients is unclear. OBJECTIVE:The purpose of this study was to prospectively assess the use of cardiac magnetic resonance imaging (MRI) and progra...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2017.06.040

    authors： Yokokawa M,Siontis KC,Kim HM,Stojanovska J,Latchamsetty R,Crawford T,Jongnarangsin K,Ghanbari H,Cunnane R,Chugh A,Pelosi F Jr,Oral H,Morady F,Bogun F

    更新日期：2017-11-01 00:00:00

  • High-frequency powers hidden within QRS complex as an additional predictor of lethal ventricular arrhythmias to ventricular late potential in post-myocardial infarction patients.

    abstract：BACKGROUND:Ventricular late potentials (VLPs) have been known to be a predictor of lethal ventricular arrhythmias (L-VAs); however, detection of other arrhythmogenic signals within the QRS complex remains obscure. OBJECTIVE:The aim of this study was to evaluate whether abnormal intra-QRS high-frequency powers (IQHFP) ...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2011.06.027

    authors： Tsutsumi T,Takano N,Matsuyama N,Higashi Y,Iwasawa K,Nakajima T

    更新日期：2011-10-01 00:00:00

  • Outcomes of nonpharmacologic treatment of atrial fibrillation in patients with hypertrophic cardiomyopathy.

    abstract：BACKGROUND:Limited data exist regarding the outcome of atrial fibrillation (AF) surgery and catheter ablation in patients with hypertrophic cardiomyopathy (HCM). OBJECTIVE:The purpose of this study was to evaluate the safety and efficacy of nonpharmacologic treatment of AF in HCM. METHODS:One hundred forty-seven pati...

    journal_title：Heart rhythm

    pub_type： 杂志文章

    doi：10.1016/j.hrthm.2015.03.042

    authors： Bassiouny M,Lindsay BD,Lever H,Saliba W,Klein A,Banna M,Abraham J,Shao M,Rickard J,Kanj M,Tchou P,Dresing T,Baranowski B,Bhargava M,Callahan T,Tarakji K,Cantillon D,Hussein A,Marc Gillinov A,Smedira NG,Wazni O

    更新日期：2015-07-01 00:00:00