背景:致心律失常性右心室心肌病(ARVC)是一种罕见的遗传性心肌病,其特征是影响右心室和左心室的纤维脂肪炎症。它最常见的表现为心悸或晕厥,但可能发生猝死,尤其是年轻男性。
方法:诊断不可能通过单一测试进行,并且可能很困难。1994年商定的工作队标准包括结构异常的主要和次要标准,心电图外观,心律失常,过早死亡的家族史和心肌组织学。2010年引入了修改的标准以提高灵敏度。
结果:致心律失常性右心室心肌病是一种桥粒疾病。已经在五个桥粒基因中检测到突变,最常见的plakophilin-2(PKP2)和多个突变也有报道。抗心律失常药物如索他洛尔和胺碘酮可改善症状,但未经证实可提高生存率。植入式除颤器适用于心脏骤停或持续性室性心动过速幸存的个体。但对于专责小组阳性但无症状个体的预防性治疗尚未达成共识.
结论:致心律失常性右心室心肌病比以前认为的更常见。初步证据支持使用修订的工作队标准提高敏感性而不损失特异性。这种疾病的遗传学很复杂,但最终应该推进诊断和管理。
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an uncommon inherited myocardial disorder characterised by fibro-fatty inflammation affecting the right and left ventricles. It most commonly presents with palpitations or syncope but sudden death may occur, especially in young males.
METHODS: Diagnosis is not possible with a single test and may be difficult. Task Force criteria agreed in 1994 comprise major and minor criteria spanning structural abnormalities, ECG appearances, arrhythmias, family history of premature death and myocardial histology. Modified criteria were introduced in 2010 to improve sensitivity.
RESULTS: Arrhythmogenic right ventricular cardiomyopathy is a desmosomal disease. Mutations have been detected in five desmosomal genes, most frequently in plakophilin-2 (PKP2) and multiple mutations are also reported. Antiarrhythmic drugs such as sotalol and amiodarone may improve symptoms but are unproven to increase survival. An implantable defibrillator is appropriate in individuals surviving cardiac arrest or sustained ventricular tachycardia, but there is not yet
consensus about prophylactic treatment of Task Force positive but asymptomatic individuals.
CONCLUSIONS: Arrhythmogenic right ventricular cardiomyopathy is more common than previously believed. Preliminary evidence supports improved sensitivity without loss of specificity using the revised Task Force criteria. The genetics of the disease are complex but should ultimately advance diagnosis and management.