Sofian Agustian, Rusdiana Rusdiana, Rasyid Ashil M A, Agustian Auzan Hakim
Department of Cardiothoracic and Vascular Surgery, Rumah Sakit Medistra, Indonesia.
Department of Biochemistry, Faculty of Medicine, Universitas Sumatera Utara, Medan, Indonesia.
Int J Surg Case Rep. 2025 Jun;131:111378. doi: 10.1016/j.ijscr.2025.111378. Epub 2025 May 2.
Partial Atrioventricular septal defect (pAVSD) is a rare congenital heart defect that typically presents in childhood period. It accounts to 1-2 % of all congenital heart malformations with a wide range of presentations from asymptomatic, subtle symptoms to congestive heart failure. While surgical repair is the definitive treatment best achieved at the age of 3-5 years, some patients are diagnosed over this age.
We report a 28-year-old female P1A0 with unremarkable past medical history presented with persistent headache and palpitation for 5 years leading to sleep disturbances. She was initially evaluated by neurologist, but no abnormalities were found. Later she was referred to a pediatric cardiologist and diagnosed as pAVSD because of the existence of primum atrial septal defect (ASD) with mitral valve cleft and mitral regurgitation. The patient was treated with surgical approach. The mitral cleft was repaired with simple interrupted suture, afterwards the primum ASD were closed using pericardial patch. The patient recovered well with subsided symptoms after 6 months of follow-up.
The diagnosis of pAVSD may be complex and could constitute a major diagnostic mistake due to the vast range of presentation that may arise. These symptoms are prevalent medical observations noted by clinicians and are mostly benign, commonly alleviated by over-the-counter medications. Delayed diagnosis of pAVSD may postpone final treatment. Untreated pAVSD may progress to pulmonary arterial hypertension, full atrioventricular block, and atrial arrhythmias.
The case presented in this article are one of the many presentations that may appear in adult pAVSD patients. The symptoms were subtle and often harmless medical findings. However, if the symptoms persist, it is recommended to get cardiology consultation and echocardiography, in case suspicion of untreated pAVSD in adulthood arise as one possible differential diagnosis. Albeit she was not at the optimal age for repair, post-operative outcome showed favorable result.
部分房室间隔缺损（pAVSD）是一种罕见的先天性心脏病，通常在儿童期出现。它占所有先天性心脏畸形的1%-2%，临床表现范围广泛，从无症状、轻微症状到充血性心力衰竭。虽然手术修复是最佳的确定性治疗方法，最好在3至5岁时进行，但有些患者在这个年龄之后才被诊断出来。
我们报告一名28岁女性，孕1产0，既往病史无异常，因持续头痛和心悸5年导致睡眠障碍前来就诊。她最初由神经科医生进行评估，但未发现异常。后来她被转诊至儿科心脏病专家处，由于存在原发孔房间隔缺损（ASD）、二尖瓣裂缺和二尖瓣反流，被诊断为pAVSD。该患者接受了手术治疗。二尖瓣裂缺用简单间断缝合进行修复，随后使用心包补片关闭原发孔ASD。随访6个月后，患者恢复良好，症状缓解。
pAVSD的诊断可能很复杂，由于其可能出现的广泛临床表现，可能会构成重大诊断失误。这些症状是临床医生常见的医学观察结果，大多是良性的，通常通过非处方药物即可缓解。pAVSD的延迟诊断可能会推迟最终治疗。未经治疗的pAVSD可能会发展为肺动脉高压、完全性房室传导阻滞和房性心律失常。
本文所呈现的病例是成年pAVSD患者可能出现的众多表现之一。症状较为隐匿，往往是无害的医学发现。然而，如果症状持续存在，建议进行心脏科会诊并做超声心动图检查，以防怀疑成年期存在未经治疗的pAVSD作为一种可能的鉴别诊断。尽管她并非手术修复的最佳年龄，但术后结果显示良好。
