Barth综合征（BTHS）是由TAFAZZIN缺陷引起的X连锁线粒体心肌病，负责心磷脂重塑的基因.心磷脂线粒体水平的改变导致心肌病（CM），肌肉无力,锻炼不容忍，和死亡率。预测结果的心脏危险因素未知。因此,我们进行了一项纵向观察研究,以确定BTHS结局的危险因素.包括至少两次评估（或一次随后死亡或移植）的受试者。心脏大小,函数,和QTc数据在2002年至2018年的7个时间点通过超声心动图和心电图测量。分析包括基线，连续,和分类变量。分类风险因素包括QTc延长，右心室面积异常改变（RVFAC），左心室（LV）或右心室不紧密，和限制性CM表型。评估变量与心脏死亡或移植（CD/TX）之间的关联。中位入学年龄为7岁（范围0.5-22；n=44）。首次评估后15年无移植生存率（TFS）为74.4%。队列显示左心室大小和中风量z-评分纵向下降（舒张末期容积，p=0.0002;冲程容积p<0.0001),RVFAC恶化（p=0.0405），和全局纵向应变（GLS）（p=0.0001），具有稳定的喷射（EF）和缩短（FS）分数。CD/TX受试者（n=9）显示左心室扩张恶化（p=0.0066），EF(p≤0.0001),FS（p=0.0028），和RVFAC(p=.0032)与TFS稳定性的关系。具有≥2个分类危险因素可预测CD/TX(p=0.0073)。超过15年,25%的BTHS受试者进展为CD/TX。左心室渐进式放大的，功能障碍,和多种心脏危险因素需要加强监测和强化治疗.
Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in TAFAZZIN, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational
study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5-22; n = 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume, p = 0.0002; stroke volume p < 0.0001), worsening RV FAC (p = 0.0405), and global longitudinal strain (GLS) (p = 0.0001) with stable ejection (EF) and shortening (FS) fraction. CD/TX subjects (n = 9) displayed worsening LV dilation (p = 0.0066), EF (p ≤ 0.0001), FS (p = 0.0028), and RV FAC (p = .0032) versus stability in TFS. Having ≥ 2 categorical risk factors predicted CD/TX (p = 0.0073). Over 15 years, 25% of BTHS subjects progressed to CD/TX. Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.
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