Faculty of medicine, Institute of Physiology, University of Ljubljana, Ljubljana, Slovenia.
Division of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Brain Behav. 2018 Aug;8(8):e01077. doi: 10.1002/brb3.1077. Epub 2018 Jul 20.
Although Huntington's disease (HD) is a disease of the central nervous system, HD mortality surveys indicate heart disease as a major cause of death. Cardiac dysfunction in HD might be a primary consequence of peripherally expressed mutant huntingtin or secondary to either a general decline in health or the onset of neurological dysfunction. The aim of the study was to clarify the heart muscle involvement.
We measured conventional and advanced resting ECG indices. Thirty-one subjects with a confirmed huntingtin gene mutation and 31 age- and gender-matched controls were included. The HD subjects were divided into four groups based on their Unified Huntington Disease Rating Scale (UHDRS) motor score.
We detected changes in advanced ECG variables connected with electrical ventricular remodeling (t test, p < 0.01). The increase in the unexplained part of both QT variability and the standard deviation of normal-to-normal QT intervals, presumably reflecting beat-to-beat changes in repolarization, was most pronounced. Further, both variables correlated with the product of the cytosine-adenine-guanine (CAG) triplets' repeat length and the subjects' age (CAP), the former R = 0.423 (p = 0.018) and the latter R = 0.499 (p = 0.004). There was no correlation between the CAP score and any of variables representing autonomic nervous system activity.
Both autonomic nervous system dysfunction and cardiac electrical remodeling are present in patients with HD. The changes in advanced ECG variables observed in the study evolve with HD progression. The increased values of QT unexplained variability may be a marker of temporal inhomogeneity in ventricular repolarization associated with malignant ventricular arrhythmias.
尽管亨廷顿病（HD）是一种中枢神经系统疾病，但 HD 死亡率调查表明心脏病是主要死因。HD 中的心脏功能障碍可能是外周表达的突变亨廷顿蛋白的主要后果，或者是由于整体健康状况下降或神经功能障碍的发生而导致的。本研究旨在阐明心肌受累情况。
我们测量了常规和先进的静息心电图指数。纳入了 31 名经证实携带亨廷顿基因变异的患者和 31 名年龄和性别匹配的对照者。根据统一亨廷顿病评定量表（UHDRS）运动评分，HD 患者被分为四组。
我们检测到与电心室重构相关的先进 ECG 变量变化（t 检验，p<0.01）。QT 变异性和正常到正常 QT 间期标准差的未解释部分增加最为明显，这可能反映了复极的逐搏变化。此外，这两个变量都与胞嘧啶-腺嘌呤-鸟嘌呤（CAG）三核苷酸重复长度和受试者年龄的乘积（CAP）相关，前者 R=0.423（p=0.018），后者 R=0.499（p=0.004）。CAP 评分与代表自主神经系统活动的任何变量之间均无相关性。
HD 患者同时存在自主神经功能障碍和心脏电重构。研究中观察到的先进 ECG 变量变化随着 HD 的进展而演变。QT 未解释变异性增加的值可能是与恶性室性心律失常相关的心室复极时间不均匀性的标志物。
