脊髓性肌萎缩症中的 Brugada 综合征。

Brugada syndrome in spinal and bulbar muscular atrophy.

机构信息

From the Department of Neurology (A.A., M.K., K.S., H.B., N.S., A.H., T. Mano, Y.H., H.N., H.W., G.S.), Nagoya University Graduate School of Medicine; Institute for Advanced Research (H.B.), Nagoya University; Department of Speech Pathology and Audiology (M.Y.), Aichi-Gakuin University School of Health Science, Nisshin; Department of Cardiovascular Medicine (T. Makiyama), Kyoto University Graduate School of Medicine; Department of Cardiovascular and Respiratory Medicine (S.O., M.F., M.H.), Shiga University of Medical Science, Ohtsu; and Division of Cardiology (S.-i.M.), Department of Internal Medicine, Fujita Health University School of Medicine, Toyoake, Japan.

出版信息

Neurology. 2014 May 20;82(20):1813-21. doi: 10.1212/WNL.0000000000000434. Epub 2014 Apr 23.

DOI:10.1212/WNL.0000000000000434

PMID:24759840

Abstract

OBJECTIVE

The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues.

METHODS

Two independent cardiologists evaluated ECGs from a total of 144 consecutive subjects with SBMA. We performed immunohistochemical, immunoblot, and quantitative real-time PCR analyses of autopsied myocardium.

RESULTS

Abnormal ECGs were detected in 70 (48.6%) of 144 subjects. The most frequent findings were ST-segment abnormalities in V1-3 (19.4%), followed by ST-segment abnormalities in V5-6 (18.1%). We detected Brugada-type ECGs in 17 of 28 subjects with ST-segment abnormalities in V1-3. Of those, one subject presented with syncope that required an implantable cardioverter defibrillator and led to eventual sudden death, and another subject also died suddenly. No subjects with Brugada-type ECGs had mutations in SCN5A, CACNA1C, or CACNB2 genes. In autopsied cases, we detected nuclear accumulation of the mutant androgen receptor protein and decreased expression levels of SCN5A in the myocardium.

CONCLUSIONS

Subjects with SBMA often show Brugada-type ECG. The accumulation of the pathogenic androgen receptor may have a role in the myocardial involvement in SBMA.

摘要

目的

本研究旨在阐明影响神经元和非神经元组织的神经肌肉疾病脊髓延髓肌萎缩症（SBMA）患者的心肌受累及其临床意义。

方法

两名独立的心脏病专家评估了 144 例连续 SBMA 患者的心电图。我们对尸检心肌进行了免疫组织化学、免疫印迹和实时定量 PCR 分析。

结果

在 144 例患者中，有 70 例（48.6%）出现异常心电图。最常见的发现是 V1-3 的 ST 段异常（19.4%），其次是 V5-6 的 ST 段异常（18.1%）。我们在 17 例 V1-3 段 ST 段异常的患者中检测到 Brugada 型心电图。其中，1 例患者出现晕厥，需要植入式心脏除颤器，最终导致猝死，另 1 例患者也突然死亡。没有 Brugada 型心电图的患者存在 SCN5A、CACNA1C 或 CACNB2 基因突变。在尸检病例中，我们检测到突变雄激素受体蛋白的核积累和 SCN5A 在心肌中的表达水平降低。