CARDIAC AND SKELETAL MUSCLE IN BARTH SYNDROME

巴斯综合征中的心肌和骨骼肌

• 批准号: 7950710
• 负责人: BARRY J BYRNE
• 金额: $ 0.91万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950710
• 关键词: 3-Methylglutaconic aciduria type 2; Address; Adolescent; Arrhythmia; Biochemical; Cardiac; Cardiolipins; Cardiomyopathies; Carnitine; Cholesterol; Classification; Clinical; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Cyclic Neutropenia; Devices; Dilated Cardiomyopathy; Disease; Evaluation; Family; Functional disorder; Funding; Grant; Growth; Incidence; Institution; Link; Medical; Mutation; Myopathy; Neutropenia; Observational Study; Patient Care; Patients; Performance; Phenotype; Reporting; Research; Research Personnel; Resources; Risk; Screening procedure; Severities; Severity of illness; Skeletal Muscle; Source; TAZ gene; United States National Institutes of Health; White Blood Cell Count procedure; Xq28; age related; cohort; design; heart rhythm; mitochondrial dysfunction; skeletal; young adult

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Barth Syndrome is an X-linked disorder characterized by dilated cardiomyopathy, cyclic neutropenia, skeletal myopathy, and growth deficiency. Clinical disease expression is variable, even within families. Mutations in the TAZ gene at Xq28 are responsible, leading to cardiolipin deficiency and mitochondrial dysfunction. To date there has been no systematic evaluation of the cardiac phenotype. Recent unpublished reports suggest an increased incidence of arrhythmia, especially among adolescents and young adults. This proposal is an observational study of a cohort of patients with Barth syndrome designed to evaluate the age-related risk of arrhythmia in addition to investigating the relationships of cardiac performance, skeletal myopathy, and biochemical correlates of disease severity. The hypothesis is that an age-related risk of cardiac rhythm disturbance is present and independent of the severity of cardiomyopathy. Secondarily, the degree of cardiac dysfunction may be related to other variables including neutropenia, carnitine profile, and degree of skeletal myopathy. This proposal seeks to confirm the hypothesis through two specific aims. The first aim will address analysis of cardiac rhythm abnormalities and the second aim will investigate the cardiomyopathy using detailed echocardiographic analysis and compare cardiac performance to skeletal myopathy and biochemical and hematological variables including white blood cell count, carnitine level, and cholesterol. We anticipate that the results of this study will be valuable in guiding the medical care of patients with Barth Syndrome, including screening for arrhythmias and the potential need for medical or device therapy for cardiac rhythm disturbance.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 Barth综合征是一种X连锁疾病，其特征是心肌病，环状中性粒细胞减少症，骨骼肌病和生长缺乏症。临床疾病表达也是可变的，即使在家庭内部也是如此。 XQ28的TAZ基因中的突变是造成的，导致心脂缺乏症和线粒体功能障碍。迄今为止，还没有对心脏表型进行系统的评估。最近未发表的报告表明，心律不齐的发生率增加，尤其是在青少年和年轻人中。该提案是对Barth综合征患者队列的一项观察性研究，旨在评估心律不齐的年龄风险，除了研究心脏表现，骨骼肌病和疾病严重程度的生化相关性的关系外。假设是存在与年龄相关的心律障碍的风险，并且与心肌病的严重程度无关。 其次，心脏功能障碍的程度可能与其他变量有关，包括中性粒细胞减少症，肉碱谱和骨骼肌病程度。 该提案旨在通过两个具体目标来确认该假设。第一个目的将解决对心律异常的分析，第二个目标将使用详细的超声心动图分析研究心肌病，并将心脏性能与骨骼肌病以及生化和血液学变量进行比较，包括白细胞计数，肉碱计数和胆固醇。 我们预计，这项研究的结果对于指导Barth综合征患者的医疗保健将很有价值，包括筛查心律不齐以及潜在的医疗或设备治疗对心律障碍的需求。