Sen-Chowdhry Srijita, Lowe Martin D, Sporton Simon C, McKenna William J
Department of Cardiology, The Heart Hospital, London, UK.
Am J Med. 2004 Nov 1;117(9):685-95. doi: 10.1016/j.amjmed.2004.04.028.
Arrhythmogenic right ventricular cardiomyopathy, also known as right ventricular dysplasia, is a genetically determined heart muscle disease associated with arrhythmia, heart failure, and sudden death. Autosomal dominant inheritance is typical. The identification of causative mutations in cell adhesion proteins has shed new light on its pathogenesis. Fibrofatty replacement of the myocardium, the hallmark pathologic feature, may be a response to injury caused by myocyte detachment. Sudden death is often the first manifestation in probands, emphasizing the importance of evaluating asymptomatic relatives for the disease. Standardized guidelines facilitate the clinical diagnosis of right ventricular dysplasia. However, familial studies have highlighted the need to broaden the diagnostic criteria, which are highly specific but lack sensitivity for early disease. Modifications have been proposed for the diagnosis of right ventricular dysplasia in relatives. Early right ventricular dysplasia is characterized by a "concealed phase" in which electrocardiographic and imaging abnormalities are often absent, but patients may nonetheless be at risk for arrhythmic events. Detection at this stage remains a clinical challenge, underscoring the potential value of mutation analysis in identifying affected persons. Serial evaluation of patients with suspected right ventricular dysplasia is recommended as clinical features may develop during the follow-up period. The onset of symptoms such as palpitation or syncope may herald an active phase of a previously quiescent disease, during which patients are at increased risk for sudden death. Greater awareness of right ventricular dysplasia among physicians and judicious use of implantable cardioverter-defibrillators may help to prevent unnecessary deaths.
致心律失常性右室心肌病，也称为右室发育不良，是一种与心律失常、心力衰竭和猝死相关的遗传性心肌疾病。常染色体显性遗传较为典型。细胞黏附蛋白中致病突变的鉴定为其发病机制提供了新的线索。心肌的纤维脂肪替代是其标志性病理特征，可能是对心肌细胞脱离所造成损伤的一种反应。猝死往往是先证者的首发表现，这凸显了对无症状亲属进行该病评估的重要性。标准化指南有助于右室发育不良的临床诊断。然而，家族性研究强调了拓宽诊断标准的必要性，这些标准特异性高，但对早期疾病缺乏敏感性。已有人提出对亲属中右室发育不良诊断标准的修改建议。早期右室发育不良的特点是存在一个“隐匿期”，在此期间心电图和影像学异常往往不存在，但患者仍可能有发生心律失常事件的风险。在这一阶段进行检测仍然是一项临床挑战，这突出了突变分析在识别受影响个体方面的潜在价值。建议对疑似右室发育不良的患者进行系列评估，因为临床特征可能在随访期间出现。心悸或晕厥等症状的出现可能预示着先前静止的疾病进入活动期，在此期间患者猝死风险增加。医生对右室发育不良有更高的认识并明智地使用植入式心脏复律除颤器可能有助于预防不必要的死亡。
