Multidisciplinary Study of Right Ventricular Dysplasia

右心室发育不良的多学科研究

• 批准号: 6929749
• 负责人: FRANK I MARCUS
• 金额: $ 48.38万
• 依托单位: UNIVERSITY OF ARIZONA
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-27 至 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6929749
• 关键词: arrhythmia; cooperative study; diagnosis design /evaluation; family genetics; gene expression; gene mutation; genetic mapping; genetic susceptibility; heart disorder diagnosis; heart function; heart ventricle; human subject; longitudinal human study; pathologic process; patient /disease registry; patient oriented research

DESCRIPTION (provided by applicant): This application is part of a clustered proposal consisting of three components: an application by Dr. Frank Marcus describing the overall scientific program, an application by Dr. Jeffrey Towbin describing the genetic analyses for the study, and a proposal by Dr. Wojciech Zareba describing the organization and operation of the Coordination and Data Center (CDC) for the study. The proposed five-year research plan is a multi-disciplinary, multicenter, collaborative study to investigate the cardiac, clinical, and genetic aspects of arrhythmogenic right ventricular dysplasia (ARVD), a progressive disorder that predominantly affects the right side of the heart and causes ventricular arrhythmias. In many patients the disease is familial. ARVD may account for as many as 5% of unexpected sudden deaths under the age of 65 and 3-4% of sudden death during sports. There can be considerable difficulty in diagnosing this disease with certainty, and there is incomplete information on the pathogenesis, natural history, and treatment of the patients and affected members. The overall objective of the Multidisciplinary Study of Right Ventricular Dysplasia is to characterize the genetic and clinical features of arrhythmogenic right ventricular dysplasia (ARVD). The specific aims are: 1) to establish a North American ARVD Registry enrolling ARVD patients and their family members, based on standardized diagnostic test criteria, in a prospective longitudinal follow-up study; 2) to determine the genetic background of ARVD by identifying chromosomal loci and specific gene mutations associated with this disorder; 3) to determine the influence of the genotype on the clinical course of patients with ARVD and explore phenotype-genotype associations that will contribute to improved diagnosis, risk stratification, and therapy; and 4) to develop quantitative methods to assess right ventricular function in order to enhance the specificity and sensitivity of ARVD diagnosis. This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder.

描述（由申请人提供）： 该应用程序是由三个组成的集群提案的一部分 组件：弗兰克·马库斯博士的应用程序描述了整体 科学计划，Jeffrey Towbin 博士的应用程序描述了 该研究的遗传分析以及 Wojciech Zareba 博士的提案 描述协调和数据中心的组织和运作 （疾病预防控制中心）进行这项研究。拟议的五年研究计划是一个多学科、 多中心、协作研究来调查心脏、 致心律失常性右心室发育不良的临床和遗传方面 （ARVD），一种主要影响右侧的进行性疾病 心脏并引起室性心律失常。在许多患者中，这种疾病是 家庭的。 ARVD 可能占意外猝死的 5% 65岁以下的人在运动中猝死的比例为3-4%。可以有 明确诊断这种疾病相当困难，并且存在 关于发病机制、自然史和治疗的信息不完整 患者和受影响的成员。总体目标 右心室发育不良的多学科研究旨在表征 致心律失常性右心室发育不良的遗传和临床特征 （抗逆转录病毒病）。具体目标是：1）建立北美ARVD 登记处登记 ARVD 患者及其家庭成员，基于 在前瞻性纵向随访中标准化诊断测试标准 学习; 2) 通过鉴定来确定ARVD的遗传背景 与这种疾病相关的染色体位点和特定基因突变； 3) 确定基因型对临床病程的影响 ARVD 患者并探索表型-基因型关联，这将 有助于改进诊断、风险分层和治疗；和 4) 到 开发评估右心室功能的定量方法，以便 提高ARVD诊断的特异性和敏感性。这个集成的 研究资助提案提供了扩大基金的巨大前景 有关 ARVD 和定位相关基因的临床知识 对于这种疾病。

项目成果

Magnetic resonance imaging of arrhythmogenic right ventricular dysplasia.

致心律失常性右心室发育不良的磁共振成像。

• DOI: 10.1046/j.1540-8167.2002.01180.x
• 发表时间: 2002
• 期刊: Journal of cardiovascular electrophysiology
• 影响因子: 2.7
• 作者: Tandri,Harikrishna;Rutberg,Julie;Bluemke,DavidA;Calkins,Hugh
• 通讯作者: Calkins,Hugh

The electrocardiogram in right ventricular cardiomyopathy/dysplasia. How can the electrocardiogram assist in understanding the pathologic and functional changes of the heart in this disease?

• DOI: 10.1016/j.jelectrocard.2008.12.011
• 发表时间: 2009-03-01
• 期刊: Journal of electrocardiology
• 影响因子: 1.3
• 作者: Marcus, Frank I;Zareba, Wojciech
• 通讯作者: Zareba, Wojciech

Utility of a combined signal-averaged electrocardiogram and QT dispersion algorithm in identifying arrhythmogenic right ventricular dysplasia in patients with tachycardia of right ventricular origin.

信号平均心电图和 QT 离散度算法相结合，用于识别右心室起源的心动过速患者的致心律失常性右心室发育不良。

• DOI: 10.1016/s0002-9149(03)00482-x
• 发表时间: 2003
• 期刊: The American journal of cardiology
• 作者: Nasir,Khurram;Bomma,Chandra;Khan,FaisalA;Tandri,Harikrishna;Tichnell,Crystal;James,Cindy;Rutberg,Julie;Berger,Ronald;Calkins,Hugh
• 通讯作者: Calkins,Hugh

Regional differences in systolic and diastolic function in arrhythmogenic right ventricular dysplasia/cardiomyopathy using magnetic resonance imaging.

使用磁共振成像观察致心律失常性右心室发育不良/心肌病收缩和舒张功能的区域差异。

• DOI: 10.1016/j.amjcard.2005.02.026
• 发表时间: 2005
• 期刊: The American journal of cardiology
• 作者: Bomma,Chandra;Dalal,Darshan;Tandri,Harikrishna;Prakasa,Kalpana;Nasir,Khurram;Roguin,Ariel;Tichnell,Crystal;James,Cynthia;Lima,JoaoAC;Calkins,Hugh;Bluemke,DavidA
• 通讯作者: Bluemke,DavidA

Utility of SAECG in arrhythmogenic right ventricle dysplasia.

SAECG 在致心律失常性右心室发育不良中的应用。

• DOI: 10.1046/j.1542-474x.2003.08204.x
• 发表时间: 2003
• 期刊: Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
• 作者: Nasir,Khurram;Rutberg,Julie;Tandri,Harikrishna;Berger,Ronald;Tomaselli,Gordon;Calkins,Hugh
• 通讯作者: Calkins,Hugh