Unusual presentation of a patient with partial anomalous pulmonary venous connections without a septal defect: a case report and literature review.

Introduction: Partial anomalous pulmonary vein connections (PAPVC) are rare congenital abnormalities in which one or more pulmonary veins drain into the right atrium. This pathological condition may present in various ways, such as chest pain and dyspnea, or it may be diagnosed incidentally. Consequently, missed or late diagnoses are common, highlighting the importance of optimal diagnostic modalities. This study presents a case of PAPVC that remained undiagnosed despite two years of symptomatic evaluations.

Case presentation: The patient was a 58-year-old woman who presented with chest pain and dyspnea, New York Heart Association Functional Class (NYHA FC) II, which had started 2 years before. She had been evaluated with a transthoracic echocardiogram, coronary angiography, and chest imaging, none of which resulted in a diagnosis or effective treatment. After being referred for evaluation by a cardiac imaging specialist, the diagnosis of PAPVC was revealed. The patient underwent corrective surgery, resulting in complete recovery and symptom improvement. Post-surgical cardiac overload caused pleural effusion and dyspnea, which were managed with diuretics. Four- and six-month follow-ups showed no abnormal findings on examination and imaging, and the patient reported no new complaints.

Conclusion: The findings in this structural cardiac abnormality are nonspecific and can be missed, and misdiagnosis is relatively common. However, patients with symptoms such as chest pain, dyspnea, increased pulmonary artery pressure, and right ventricle dilation should undergo surgical treatment to avoid more serious complications, such as heart failure.

Key clinical point: Detection of PAPVC is not straightforward in many cases and often requires evaluation with various imaging techniques for accurate diagnosis. Therefore, physicians encountering undefined causes of chest pain or dyspnea should consider multiple imaging modalities. Follow-up is also important, as certain groups of patients may require surgical treatment to prevent complications.