Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
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DOI：
10.1212/wnl.0b013e31821435bd
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发表时间：
2011-04-01
期刊：
影响因子：
9.9
通讯作者：
Molgaard, H.
中科院分区：
文献类型：
--
作者：
Ostergaard, J. R.;Rasmussen, T. B.;Molgaard, H.
目的：探讨幼年神经元型蜡样脂褐素沉着症(JNCL)心脏受累的发生和发展。方法：研究对象包括29例经基因验证的JNCL儿童和青少年。我们重点关注心电图上的T波异常、心脏肥厚和超声心动图上的左心室收缩功能，以及24小时EKG上的心率和心率变异性(HRV)。对存活患者进行了7年半的观察。3年后复查24小时EKG。结果：1/3的初始EKG记录出现异常深度倒置的T波，且早在14岁就有报道。我们发现，在最初的记录中，心室肌复极障碍的存在与观察期内的死亡风险之间存在一致性。随着年龄的增长，心率和以迷走神经指数(相邻RR间期偏离大于6%)表示的心率变异性显著降低，提示JNCL对心率的影响具有年龄依赖性的双向作用：一种是通过降低心脏的副交感神经活动，另一种是通过对窦房结自律性的直接负面影响。随着年龄的增长，心动过缓和心律失常以及窦性心动过缓和心房扑动的发生之间的一致性表明，窦房结活动也随年龄增加而降低。结论：JNCL患者存在进行性心脏受累伴复极障碍、室壁肥厚和窦房结功能障碍。我们建议应加强对JNCL和其他神经性蜡样脂褐素沉积症亚型心脏受累的关注。神经病学(R)2011；76：1245-1251
Objective: To explore the onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (JNCL).Methods: The study population comprised an unselected group of 29 children and adolescents with genetically verified JNCL. We focused on T-wave abnormalities on an EKG, cardiac hypertrophy, and left ventricular systolic function on echocardiography, and heart rates and heart rate variability (HRV) on 24-hour EKG recordings. The surviving patients were observed for 7 1/2 years. The 24-hour EKG recording was repeated after 3 years.Results: Abnormally deeply inverted T waves were present in one-third of the initial EKG recordings and were reported as early as 14 years of age. We found coherence between the presence of repolarization disturbances of the ventricular myocardium at the initial recordings and risk of death during the observation period. At increasing age, heart rate and HRV, expressed as the vagal index (number of adjacent RR intervals deviating more than 6%), were significantly reduced, suggesting an age-dependent bidirectional effect of JNCL on heart rate: one through decreasing parasympathetic activity on the heart and the other through a direct negative influence on sinus node automaticity. Coherence between bradycardia and arrhythmia and occurrence of sinus arrests and atrial flutter with increasing age indicated an age-dependent decrease in sinus node activity also. In the early 20s, a high frequency of ventricular hypertrophy occurred.Conclusions: Progressive cardiac involvement with repolarization disturbances, ventricular hypertrophy, and sinus node dysfunction occur in JNCL. We recommend that the attention on heart involvement in JNCL and other neuronal ceroid lipofuscinosis subtypes should be intensified. Neurology (R) 2011;76:1245-1251