Romero Jorge, Mejia-Lopez Eliany, Manrique Carlos, Lucariello Richard
Division of Cardiology, Montefiore-Einstein Center for Heart and Vascular Care, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.
Clin Med Insights Cardiol. 2013 May 21;7:97-114. doi: 10.4137/CMC.S10940. Print 2013.
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic form of cardiomyopathy (CM) usually transmitted with an autosomal dominant pattern. It primary affects the right ventricle (RV), but may involve the left ventricle (LV) and culminate in biventricular heart failure (HF), life threatening ventricular arrhythmias and sudden cardiac death (SCD). It accounts for 11%-22% of cases of SCD in the young athlete population. Pathologically is characterized by myocardial atrophy, fibrofatty replacement and chamber dilation. Diagnosis is often difficult due to the nonspecific nature of the disease and the broad spectrum of phenotypic variations. Therefore consensus diagnostic criteria have been developed and combined electrocardiography, echocardiography, cardiac magnetic resonance imaging (CMRI) and myocardial biopsy. Early detection, family screening and risk stratification are the cornerstones in the diagnostic evaluation. Implantable cardioverter-defibrillator (ICD) implantation, ablative procedures and heart transplantation are currently the main therapeutic options.
致心律失常性右室心肌病/发育异常（ARVC/D）是一种遗传性心肌病（CM），通常以常染色体显性模式遗传。它主要影响右心室（RV），但也可能累及左心室（LV），最终导致双心室心力衰竭（HF）、危及生命的室性心律失常和心源性猝死（SCD）。在年轻运动员群体中，它占SCD病例的11%-22%。其病理特征为心肌萎缩、纤维脂肪替代和心室扩张。由于该疾病的非特异性性质和广泛的表型变异，诊断往往很困难。因此，已经制定了共识诊断标准，结合了心电图、超声心动图、心脏磁共振成像（CMRI）和心肌活检。早期检测、家族筛查和风险分层是诊断评估的基石。植入式心律转复除颤器（ICD）植入、消融手术和心脏移植是目前主要的治疗选择。
