背景:致心律失常性右心室心肌病(ARVC),或最近被称为心律失常性心肌病(ACM),是一种遗传性心肌疾病,其特征是进行性纤维脂肪替代心肌和室性心律失常和心源性猝死(SCD)的风险。我们报告了一个案例研究,以证明基因突变检测在诊断为ARVC的年轻患者的SCD一级预防风险分层中的作用。
方法:一名15岁的亚洲(越南)男性患者因心悸入院,无快速性心律失常或晕厥病史,有潜在SCD家族史。包括心脏磁共振成像(MRI)在内的临床发现和检查高度提示ARVC。基因测序用于SCD风险分层,发现PKP2基因突变。基于个性化的风险分层,植入ICD用于SCD一级预防.ICD植入后6个月,装置检测到并成功实施了适当的电击,以终止潜在致命性室性心律失常的发作.因此,ICD植入被证明对该患者是合适的。
结论:虽然根据2010年工作组标准和最近的临床指南,已知基因突变是诊断ARVC的重要因素,它们在SCD危险分层中的作用仍存在争议.我们的案例表明,当与其他临床因素和家族史一起使用时,这些信息可能有助于确定ICD植入的适当适应症.
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC), or more recently known as arrhythmogenic cardiomyopathy (ACM), is an heritable disorder of the myocardium characterized by progressive fibrofatty replacement the heart muscle and risk of ventricular arrhythmias and sudden cardiac death (SCD). We report a
case study to demonstrate the role of gene mutation detection in risk stratification for primary prevention of SCD in a young patient diagnosed with ARVC.
METHODS: A 15-year-old Asian (Vietnamese) male patient with no history of documented tachyarrhythmia or syncope and a family history of potential SCD was admitted due to palpitations. Clinical findings and work-up including cardiac magnetic resonance imaging (MRI) were highly suggestive of ARVC. Gene sequencing was performed for SCD risk stratification, during which PKP2 gene mutation was found. Based on the individualized risk stratification, an ICD was implanted for primary prevention of SCD. At 6 months post ICD implantation, the device detected and successfully delivered an appropriate shock to terminate an episode of potentially fatal ventricular arrhythmia. ICD implantation was therefore proven to be appropriate in this patient.
CONCLUSIONS: While gene mutations are known to be an important factor in the diagnosis of ARVC according to the 2010 Task Force Criteria and recent clinical guidelines, their role in risk stratification of SCD remains controversial. Our
case demonstrated that when used with other clinical factors and family history, this information could be helpful in identifying appropriate indication for ICD implantation.