Onea Horea-Laurentiu, Lazar Florin-Leontin, Teodoru Minodora, Stoia Oana, Olinic Dan-Mircea
Department of Internal Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, 5th Dept. of Internal Medicine, Medical Clinic No.1, 40006 Cluj-Napoca, Romania.
Department of Cardiology, County Clinical Emergency Hospital Sibiu, 550245 Sibiu, Romania.
Eur Heart J Case Rep. 2024 Aug 22;8(9):ytae444. doi: 10.1093/ehjcr/ytae444. eCollection 2024 Sep.
Ebstein's anomaly is a rare congenital heart disease characterized by apical displacement of the septal and posterior tricuspid valve leaflets. It is commonly associated with other defects such as patent foramen ovale or accessory atrioventricular pathways.
We describe a case of an Ebstein anomaly diagnosed in an adult in his 50s in association with a septal defect between the left ventricle and right atrium (Gerbode defect). The diagnosis was confirmed on magnetic resonance imaging. A third anomaly was noted on coronary angiography, consisting of an aberrant origin of the right coronary artery from the left sinus of Valsalva. The patient was paucisymptomatic until he developed typical atrial flutter. Catheter ablation was employed after first arrhythmia recurrence and the patient is to date in good clinical condition.
The association of Ebstein's anomaly-Gerbode defect is extremely rare, and to our knowledge, this is the first case that presents in addition an anomalous coronary artery. Both structural defects were without haemodynamic significance, and there was no proof of myocardial ischaemia. As the case illustrates, congenital disorders, even when in conjunction, can have a silent clinical course and multimodality imaging is sometimes necessary for a complete and final diagnosis.
埃布斯坦畸形是一种罕见的先天性心脏病，其特征为间隔和三尖瓣后叶瓣尖移位。它通常与其他缺陷相关，如卵圆孔未闭或房室旁道。
我们描述了一例在一名50多岁成年人中诊断出的埃布斯坦畸形病例，该病例伴有左心室与右心房之间的间隔缺损（格博德缺损）。磁共振成像证实了诊断。冠状动脉造影发现了第三个异常，即右冠状动脉起源于左冠状动脉窦。该患者在出现典型心房扑动之前症状较少。首次心律失常复发后采用了导管消融术，患者至今临床状况良好。
埃布斯坦畸形与格博德缺损的关联极为罕见，据我们所知，这是首例同时伴有冠状动脉异常的病例。两种结构缺陷均无血流动力学意义，也没有心肌缺血的证据。正如该病例所示，先天性疾病即使合并存在，也可能有隐匿的临床过程，有时需要多模态成像才能做出完整和最终的诊断。
