Surgical repair of partial atrioventricular septal defect (pAVSD) in adulthood: A rare case report

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.