PDF(Pubmed)
Abstract：
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac death. This cardiomyopathy can have variable clinical presentations, especially in the pediatric and young adult populations. In this report, we describe the case of an 18-year-old female with myocarditis as the initial presentation of ACM. She presented following a resuscitated cardiac arrest due to ventricular arrhythmia. On arrival, myocardial edema and delayed gadolinium enhancement were present on cardiac magnetic resonance imaging, with no ventricular changes observed, making the diagnosis consistent with myocarditis. Genetic testing revealed a pathogenic mutation in the desmoplakin gene consistent with ACM. Given the unconventional initial presentation of this patient\'s disease, early consideration of genetic testing may be beneficial to aid in the early diagnosis and management of ACM in young patients.
摘要：
心律失常性心肌病（ACM）是一种与心室组织的纤维脂肪组织置换相关的遗传性心肌病。该疾病可引起心室功能障碍和心律失常，并可增加心源性猝死的风险。这种心肌病可以有不同的临床表现，尤其是在儿童和年轻的成年人群。在这份报告中,我们描述了一名18岁女性心肌炎的病例作为ACM的初始表现。她因室性心律失常而出现心脏骤停。抵达后,心肌水肿和延迟钆增强出现在心脏磁共振成像，没有观察到心室变化，使诊断与心肌炎一致。基因检测显示desmoplakin基因中的致病性突变与ACM一致。鉴于该患者疾病的非常规初始表现，早期考虑基因检测可能有助于年轻患者ACM的早期诊断和治疗.
