A 49-year-old woman with heterotaxy syndrome was diagnosed with WHO Group 1 pulmonary arterial hypertension due to a single atrium and situs ambiguous with polysplenia, and maintained on Bosentan.
Case Report (n=1)
Highlights a rare case of WHO Group 1 pulmonary arterial hypertension in an adult caused by congenital anomalies including single atrium and situs ambiguous with polysplenia.
Abstract Introduction Pulmonary arterial hypertension (PAH) is classified into five groups by the World Health Organization. Congenital heart disease-associated PAH is uncommon in adults. Situs ambiguous with polysplenia is a rare congenital condition, and its association with PAH in adulthood is rarely reported. We present a case of PAH associated with single atrium and situs ambiguous with polysplenia. Case Presentation A 49-year-old woman with a history of heterotaxy syndrome presented with progressive shortness of breath. Physical examination revealed dextrocardia, and a chest radiograph confirmed a right-sided cardiac silhouette. CT Abdomen and Pelvis demonstrated situs ambiguous with polysplenia (Right Image). Transthoracic echocardiography showed a single atrium and situs ambiguous (Left image). Laboratory evaluation including brain natriuretic peptide (BNP). Pulmonary function tests ruled out obstructive or restrictive lung disease. Given the congenital anomaly and absence of lung disease, left heart disease, or thromboembolic disease, the diagnosis was consistent with WHO Group 1 PAH. The patient was maintained on Bosentan. Discussion This case illustrates a rare presentation of pulmonary arterial hypertension in adulthood associated with single atrium, situs ambiguous, and polysplenia. These congenital anomalies are often diagnosed in childhood, but in rare cases may remain undetected until adulthood and manifest as PAH. Recognition of such congenital causes is important, especially when evaluating adults with unexplained pulmonary hypertension. Conclusion Pulmonary arterial hypertension due to congenital anomalies such as single atrium and situs ambiguous with polysplenia is rare in adults. Early recognition and appropriate management, including maintenance therapy such as Bosentan, may improve outcomes. This abstract is funded by: None
Alkharabsheh et al. (Fri,) conducted a case report in Pulmonary arterial hypertension (PAH) (n=1). Bosentan was evaluated. A 49-year-old woman with heterotaxy syndrome was diagnosed with WHO Group 1 pulmonary arterial hypertension due to a single atrium and situs ambiguous with polysplenia, and maintained on Bosentan.