Bosman Laurens P, Te Riele Anneline S J M
Cardiology, UMC Utrecht, Utrecht, The Netherlands.
ICIN-Netherlands Heart Institute, Utrecht, The Netherlands.
Heart. 2022 Jan;108(2):90-97. doi: 10.1136/heartjnl-2021-319113. Epub 2021 May 14.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterised by fibrofatty replacement of predominantly the right ventricle and high risk of ventricular arrhythmias and sudden cardiac death (SCD). Early diagnosis and accurate risk assessment are challenging yet essential for SCD prevention. This manuscript summarises the current state of the art on ARVC diagnosis and risk stratification. Improving the 2010 diagnostic criteria is an ongoing discussion. Several studies suggest that early diagnosis may be facilitated by including deformation imaging ('strain') for objective assessment of wall motion abnormalities, which was shown to have high sensitivity for preclinical disease. Adding fibrofatty replacement detected by late gadolinium enhancement or T1 mapping in cardiac MRI as criterion for diagnosis is increasingly suggested but requires more supporting evidence from consecutive patient cohorts. In addition to the traditional right-dominant ARVC, standard criteria for arrhythmogenic cardiomyopathy (ACM) and arrhythmogenic left ventricular cardiomyopathy (ALVC) are on the horizon. After diagnosis confirmation, the primary management goal is SCD prevention, for which an implantable cardioverter-defibrillator is the only proven therapy. Prior studies determined that younger age, male sex, previous (non-) sustained ventricular tachycardia, syncope, extent of T-wave inversion, frequent premature ectopic beats and lower biventricular ejection fraction are risk factors for subsequent events. Previous implantable cardioverter-defibrillator indication guidelines were however limited to three expert-opinion flow charts stratifying patients in risk groups. Now, two multivariable risk prediction models (arvcrisk.com) combine the abovementioned risk factors to estimate individual risks. Of note, both the flow charts and prediction models require clinical validation studies to determine which should be recommended.
致心律失常性右室心肌病（ARVC）是一种遗传性心肌病，其特征主要为右心室纤维脂肪组织替代，且存在室性心律失常和心源性猝死（SCD）的高风险。早期诊断和准确的风险评估具有挑战性，但对于预防SCD至关重要。本手稿总结了ARVC诊断和风险分层的当前技术水平。改进2010年诊断标准的讨论仍在进行中。多项研究表明，纳入形变成像（“应变”）以客观评估室壁运动异常可能有助于早期诊断，该方法对临床前疾病具有高敏感性。越来越多的人建议将心脏磁共振成像中延迟钆增强或T1映射检测到的纤维脂肪组织替代作为诊断标准，但这需要更多来自连续患者队列的支持证据。除了传统的右心室优势型ARVC外，致心律失常性心肌病（ACM）和致心律失常性左室心肌病（ALVC）的标准也即将出台。确诊后，主要治疗目标是预防SCD，对此植入式心律转复除颤器是唯一经证实有效的治疗方法。先前的研究确定，年轻、男性、既往（非）持续性室性心动过速、晕厥、T波倒置程度、频发室性早搏以及较低的双心室射血分数是后续事件的危险因素。然而，先前的植入式心律转复除颤器适应证指南仅限于三个将患者分层为风险组的专家意见流程图。现在，两个多变量风险预测模型（arvcrisk.com）结合上述危险因素来估计个体风险。值得注意的是，流程图和预测模型都需要进行临床验证研究，以确定应推荐哪一个。
