Dessalegne Rediet, Bekele Yoseph, Getachew Selamawit, Birhanu Mekdelawit
Department of Medicine, Nigist Eleni Mohamed Memorial Comprehensive Specialized Hospital, Wachemo University, Hossana, Ethiopia.
Department of Public Health, Wachemo University, Hossana, Ethiopia.
SAGE Open Med Case Rep. 2024 Nov 25;12:2050313X241302682. doi: 10.1177/2050313X241302682. eCollection 2024.
Ebstein's anomaly, also known as Ebstein's malformation, is a congenital heart defect that occurs in about 0.005% of live births and accounts for 0.3-0.6% of all congenital heart disease. It is due to delamination failure at embryologic state, or displacement of the leaflets from the ventricular myocardium. In people with Ebstein's abnormality, the tricuspid valve does not close properly, leading to regurgitation. Here is the case report of a 24-year-old female patient who was diagnosed with Ebstein's anomaly 5 years back and had been on follow-up. However, she missed appointments and discontinued the medication for 3 months. She presented with shortness of breath for 5 days, which occurred at rest, and generalized body weakness. Since she was in critical condition, she was admitted to the intensive care unit of the hospital. Subsequently, baseline and diagnostic investigations were done. The health care team initiated immediate treatment, and all available treatments were administered, and the patient's condition improved. In this report, the first presentation of the woman was during adulthood and it was with heart failure even though most patients with Ebstein's anomaly present during the early age of their life and with arrhythmia. Therefore, the main aim of this case report is to show the atypical presentation of Ebstein's anomaly.
埃布斯坦畸形，也称为埃布斯坦心脏畸形，是一种先天性心脏缺陷，在活产婴儿中的发生率约为0.005%，占所有先天性心脏病的0.3 - 0.6%。它是由于胚胎期分层失败，或瓣叶从心室心肌移位所致。患有埃布斯坦畸形的人，三尖瓣不能正常关闭，导致反流。以下是一名24岁女性患者的病例报告，该患者5年前被诊断为埃布斯坦畸形，一直在接受随访。然而，她错过了预约，停药3个月。她出现了5天的静息性呼吸困难和全身乏力。由于病情危急，她被收入医院重症监护病房。随后进行了基线和诊断检查。医疗团队立即展开治疗，给予了所有可用的治疗措施，患者病情有所改善。在本报告中，该女性首次发病于成年期，且表现为心力衰竭，而大多数埃布斯坦畸形患者在幼年时发病，表现为心律失常。因此，本病例报告的主要目的是展示埃布斯坦畸形的非典型表现。
