基因检测病例:表现为心肌炎的心律失常性心肌病。

IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Annals of Pediatric Cardiology Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI:10.4103/apc.apc_122_23
Rachelle E Srinivas, Lydia K Wright, Deipanjan Nandi, Emily A Hayes
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引用次数: 0

摘要

心律失常性心肌病(ACM)是一种与心室组织纤维脂肪组织替代有关的遗传性心肌病。该病可导致心室功能障碍和心律失常,并可增加心脏性猝死的风险。这种心肌病的临床表现多种多样,尤其是在儿童和年轻人群中。在本报告中,我们描述了一例以心肌炎作为 ACM 最初表现的 18 岁女性病例。她因室性心律失常导致心脏骤停,经抢救无效死亡。到达医院时,心脏磁共振成像显示心肌水肿和延迟钆增强,但未观察到心室病变,因此诊断与心肌炎一致。基因检测发现去瘤素基因发生了致病突变,与 ACM 相吻合。鉴于该患者的最初表现并不常见,及早考虑进行基因检测可能有助于早期诊断和治疗年轻患者的 ACM。
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A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis.

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.

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来源期刊
Annals of Pediatric Cardiology
Annals of Pediatric Cardiology CARDIAC & CARDIOVASCULAR SYSTEMS-
CiteScore
1.40
自引率
14.30%
发文量
51
审稿时长
23 weeks
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