Late diagnosis of Ebstein anomaly after pregnancy: A rare case report

Jesse Lesmana, Muhammad Ramadhan, Muhammad Barri, S. Purwowiyoto, Zahra Nurusshofa
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Abstract

Congenital heart disease is a concerning disease among those affected since it affects the patient's quality of life. One of which is Ebstein Anomaly (EA), with a prevalence of 1 in 200,0000 births with a clinical characteristic of displacement of the tricuspid valve that causes atrialization of the right-side heart. Women of childbearing age are at risk because they especially have asymptomatic EA, compromised to hemodynamic consequences, and risk of maternal complications. A 25-year-old woman visited the emergency department with worsening shortness of breath since last week, during rest, accompanied by decreased physical activity tolerance, bilateral ankle edema, cyanosis to the lips, and nail bed. She had echocardiography and cardiac multi-slice computed tomography to identify EA before and after her first child's birth. She was well controlled with a loop diuretic, phosphodiesterase type 5 inhibitor, and beta-blocker but could not care for her child due to her condition. The patient was discharged after symptoms subsided, awaiting further interventional evaluation. Although EA is rare, it has high morbidity and mortality, especially in women of childbearing age since it may be asymptomatic during childhood. Therefore, early recognition of EA is probably necessary for women who are planning pregnancy.
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妊娠后被晚期诊断为 Ebstein 异常:罕见病例报告
先天性心脏病是一种令人担忧的疾病,因为它会影响患者的生活质量。其中一种是埃布斯坦畸形(EA),发病率为每 20 万新生儿中就有 1 例,其临床特征是三尖瓣移位,导致右侧心脏心房化。育龄妇女是高危人群,因为她们特别容易出现无症状的 EA,影响血液动力学后果,并有可能出现孕产并发症。一名 25 岁的女性因上周以来呼吸急促加重、休息时呼吸急促、体力活动耐受力下降、双侧踝关节水肿、嘴唇和甲床发绀而到急诊科就诊。她在生第一胎前后做了超声心动图和心脏多层计算机断层扫描,以确定 EA。她服用襻利尿剂、5 型磷酸二酯酶抑制剂和β-受体阻滞剂后病情得到了很好的控制,但由于病情严重,她无法照顾孩子。患者在症状缓解后出院,等待进一步的介入评估。EA 虽然罕见,但发病率和死亡率很高,尤其是在育龄妇女中,因为它在儿童时期可能没有症状。因此,计划怀孕的妇女可能需要及早识别 EA。
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