Department of Genetics, Osmania University, and Cardiology Care Hospital, The Institute of Medical Sciences, Hyderabad, India.
Indian J Med Res. 2010 Jan;131:35-45.
Among the right ventricular conditions, Uhl's anomaly, arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) and right ventricular outflow tract ventricular tachycardia (RVOT VT) are disorders that exhibit pathogenic changes involving the right ventricular (RV) myocardium, and are expected to be severe or milder forms of the same condition. The review focuses on the aspect whether the three RV disorders are a spectrum of the same disease. ARVD/C is the only condition among these to be genetically well characterized. Also, variations in the clinical expression of ARVD/C due to the genetic heterogeneity are examined. Based on clinical manifestations, age at onset, gender ratio and the possible molecular mechanisms implicated, Uhl's anomaly, ARVD/C and RVOT VT may be considered as separate entities. Further, to differentiate between the three RV disorders, the molecular studies on ARVD/C might be helpful. An attempt was made to differentiate between the eleven different types of ARVD/Cs based on clinical symptoms presented including the progression of the disease to the left ventricle, ventricular arrhythmias and clinical characteristics like ECG, SAECG, ECHO and histopathological studies.
在右心室疾病中，Uhl 畸形、致心律失常性右室心肌病/扩张型心肌病（ARVD/C）和右室流出道室性心动过速（RVOT VT）是表现为右心室（RV）心肌发生病理性改变的疾病，预计为同一疾病的严重或较轻形式。本综述重点关注这三种 RV 疾病是否为同一疾病的谱。ARVD/C 是这些疾病中唯一具有良好基因特征的疾病。此外，还检查了由于遗传异质性导致的 ARVD/C 临床表现的变化。基于临床表现、发病年龄、性别比例和可能涉及的分子机制，Uhl 畸形、ARVD/C 和 RVOT VT 可被视为独立的实体。此外，为了区分这三种 RV 疾病，对 ARVD/C 的分子研究可能会有所帮助。我们尝试根据临床表现，包括疾病向左心室的进展、室性心律失常以及心电图、SAECG、ECHO 和组织病理学研究等临床特征，将 11 种不同类型的 ARVD/C 进行区分。
