PDF(Pubmed)
Abstract：
Atrial septal defects (ASDs), comprising a significant portion of congenital cardiac anomalies, encompass a rarer and more diagnostically challenging subset known as sinus venosus ASDs (SVASDs). ASDs are more prevalent in females, and the prognosis for patients under 40 years of age is generally favorable with advancements in surgical and transcatheter interventions. However, undiagnosed ASDs in adults above 40 years old, especially females, often lead to severe complications, including pulmonary hypertension, atrial fibrillation, Eisenmenger syndrome, and a mortality rate exceeding 50%. Our detailed case study focuses on an obese 42-year-old Hispanic migrant female with chronic respiratory failure misattributed to pulmonary hypertension, resulting in the progression of complications from undiagnosed SVASD. Further investigation using contrast-enhanced transesophageal echocardiography (TEE) elucidated the correct diagnosis four years after her initial presentation. This report explores the potential factors contributing to the patient\'s delayed diagnosis and development of advanced cardiac complications of pulmonary hypertension leading to Eisenmenger syndrome that precluded her from procedural intervention. Furthermore, this report pioneers the first thorough review of case reports in adults newly diagnosed with SVASD, revealing sex-based differences in complications.
摘要：
房间隔缺损(ASDs),包括很大一部分先天性心脏异常，包括一个罕见且更具诊断挑战性的子集，称为窦性静脉ASDs（SVASDs）。自闭症在女性中更普遍，随着手术和经导管介入治疗的进展,40岁以下患者的预后总体上是有利的.然而,40岁以上成人未确诊的自闭症患者，尤其是女性,经常导致严重的并发症，包括肺动脉高压,心房颤动,艾森曼格综合征,死亡率超过50%。我们详细的案例研究集中在一个肥胖的42岁西班牙裔移民女性慢性呼吸衰竭错误归因于肺动脉高压，导致未诊断的SVASD并发症进展。使用对比增强的经食管超声心动图（TEE）进行的进一步调查阐明了她初次就诊四年后的正确诊断。本报告探讨了导致患者延迟诊断和发展肺动脉高压导致艾森曼格综合征的晚期心脏并发症的潜在因素，这使她无法进行手术干预。此外，本报告开创了对新诊断为SVASD的成人病例报告的首次全面审查，揭示并发症的性别差异。
