Kabunga Peter, Lau Antony K, Phan Kevin, Puranik Rajesh, Liang Christina, Davis Ryan L, Sue Carolyn M, Sy Raymond W
Department of Cardiology, Royal Prince Alfred Hospital, NSW, Australia; Sydney Medical School, University of Sydney, NSW, Australia.
Department of Cardiology, Prince of Wales Hospital, Australia; Faculty of Medicine, University of New South Wales, Australia.
Int J Cardiol. 2015 Feb 15;181:303-10. doi: 10.1016/j.ijcard.2014.12.038. Epub 2014 Dec 13.
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterised by onset before the age of 20years, progressive external ophthalmoplegia, and pigmentary retinopathy, accompanied by either cardiac conduction defects, elevated cerebrospinal fluid protein or cerebellar ataxia. 50% of patients with KSS develop cardiac complications. The most common cardiac manifestation is conduction disease which may progress to complete atrioventricular block or bradycardia-related polymorphic ventricular tachycardia (PMVT). The management of cardiac electrical disease associated with KSS and mitochondrial cytopathy is systematically reviewed including the case of a 23year-old female patient with KSS who developed a constellation of cardiac arrhythmias including rapidly progressive conduction system disease and monomorphic ventricular tachycardia with myocardial scarring. The emerging role of cardiac magnetic resonance imaging (CMR) in detecting subclinical cardiac involvement is also highlighted. This review illustrates the need for cardiologists to be informed about this rare but emerging condition.
卡恩斯-塞尔综合征（KSS）是一种线粒体疾病，其特征为20岁之前发病、进行性眼外肌麻痹和色素性视网膜病变，并伴有心脏传导缺陷、脑脊液蛋白升高或小脑共济失调。50%的KSS患者会出现心脏并发症。最常见的心脏表现是传导疾病，可能进展为完全性房室传导阻滞或与心动过缓相关的多形性室性心动过速（PMVT）。本文系统回顾了与KSS和线粒体细胞病相关的心脏电疾病的管理，包括一名23岁患有KSS的女性患者的病例，该患者出现了一系列心律失常，包括快速进展的传导系统疾病和伴有心肌瘢痕的单形性室性心动过速。还强调了心脏磁共振成像（CMR）在检测亚临床心脏受累方面的新作用。这篇综述表明心脏病专家需要了解这种罕见但正在出现的疾病。
