Cardiac CT and right heart catheterization identified partial anomalous pulmonary venous return as the rare cause of unexplained pulmonary hypertension (PAP 60) in a 46-year-old woman.
Case Report (n=1)
This case highlights the importance of considering rare congenital anomalies like PAPVR in patients with unexplained pulmonary hypertension and the necessity of advanced multimodality imaging for accurate diagnosis.
Abstract Introduction Pulmonary hypertension(PH) is progressive, potentially fatal condition characterized by elevated pulmonary artery pressures and resultant right heart dysfunction. While common etiologies include idiopathic, thromboembolic, left heart disease; congenital anomalies such as PAPVR are rare but important differential diagnoses. This report highlights a challenging case of unexplained PH in a middle-aged woman, eventually diagnosed with PAPVR and managed using a multidisciplinary approach. Case Presentation A 46-year female presented with 4 months history of dry cough and 1 year of progressive shortness of breath. PMH includes hypertension, diabetes, recently diagnosed as Idiopathic PH(TTEcho showed: PAP 60); background revealed no significant exposures or risk factors. Physical examination found a well-built, woman, oxygen saturation 88% on RA, loud pulmonary component of S2, and pedal edema, with no left heart failure or connective tissue disease features. She was then followed up with investigations to find cause of her PH .Laboratory studies showed normal inflammatory markers except mildly positive ANA; other autoimmune screens, renal and liver function ,BNP were unremarkable. HRCT (Fig 1A) demonstrated dilation of pulmonary trunk and pulmonary arteries, patchy ground-glass changes, and no clear parenchymal lesions. Echocardiogram confirmed PH with mild-moderate tricuspid regurgitation and preserved LV function.CTPA and VQ scan done which excluded thromboembolism and CTEPH (Fig 1B, 1C) but pointed to right-sided overload. She had right heart catheterization (Fig 1D) showed her saturations in SVC were more than of right heart so we suspected any anomalous drainage or connection. Further cardiac CT (Fig 2) confirmed PAPVR, with right superior pulmonary vein draining into the SVC. After respiratory and cardiac review reaching medical stabilization, patient was referred for consideration of surgical correction, pending further cardiothoracic assessment. Fig1A Fig1B Fig1C Fig1D Discussion This case illustrates diagnostic challenge of PH due to unrecognized congenital vascular anomalies. Most adult cases of PAPVR present with gradual right-sided symptoms and routine imaging alone may not reveal the defect. A systematic approach, including advanced cardiovascular imaging, is crucial for uncovering such rare anomalies, improving prognosis. Literature review shows similar cases are rare; surgical correction can have favorable outcomes if performed before end-stage pulmonary vascular disease develops. This case underscores the importance of considering congenital causes in unexplained PH, especially when response to standard therapy is suboptimal. Early diagnosis and intervention can change the disease trajectory in selected patients. Fig 2 Cardiac CT: RS pulmonary vein draining in SVC This abstract is funded by: None
Ilyas et al. (Fri,) conducted a case report in Pulmonary Hypertension secondary to Partial Anomalous Pulmonary Venous Return (n=1). Diagnostic imaging and right heart catheterization was evaluated. Cardiac CT and right heart catheterization identified partial anomalous pulmonary venous return as the rare cause of unexplained pulmonary hypertension (PAP 60) in a 46-year-old woman.