Only a limited number of studies have reported on TOF with absent pulmonary valve (APV). Similarly, while cases of TOF with absent pulmonary artery (PA) have been documented, case reports describing TOF with both APV and absent PA are extremely rare. The present study investiged the case of a 1-year-old girl born at term with no initial clinical or physical signs of cyanosis. A subtle additional heart murmur detected during routine examination prompted referral to a cardiologist. Subsequent echocardiography and computed tomography (CT) angiography confirmed TOF with APV and absence of the left pulmonary artery (LPA). The patient later underwent corrective surgery, including pulmonary valve reconstruction and pulmonary artery plication. Although TOF is a common cyanotic congenital heart disease, certain variants of TOF, such as TOF with APV and absent LPA, may present without the typical cyanotic or respiratory symptoms. Therefore, even the slightest additional heart murmur should be thoroughly investigated. While clinical examination, arterial oxygenation, and echocardiography are essential, definitive diagnosis and precise anatomical characterization ultimately require CT angiography.

Unilateral pulmonary fibrosis (UPF) is an uncommon manifestation of interstitial lung disease that may arise from various causes. Among those, cardiovascular etiology is often overlooked because affected patients do not present history of exposure of any kind, are frequently asymptomatic or present only mild, subtle and nonspecific symptoms. As a result, these cases are usually identified incidentally on imaging performed for unrelated reasons, contributing to under recognition of their true prevalence. We report 3 patients with incidentally detected UPF on high-resolution computed tomography (HRCT), each associated with a distinct vascular abnormality, both congenital and acquired conditions: unilateral absence of the pulmonary artery, chronic pulmonary thromboembolism, and pulmonary artery branch hypoplasia. Our aim with this case series is to highlights the diverse radiologic patterns of vascular UPF, underscoring the importance of considering vascular causes in the differential diagnosis of unilateral fibrotic lung disease.

Proximal interruption of the pulmonary artery, also referred to as unilateral absence of the pulmonary artery (UAPA), is a rare congenital anomaly resulting from abnormal embryogenesis of the sixth aortic arch. It is frequently misdiagnosed due to nonspecific clinical features and overlapping radiological findings with more common pulmonary conditions. This case report presents the case of a 40-year-old woman with progressive exertional dyspnea and recurrent respiratory infections, in whom radiological evaluation revealed a complete absence of the left pulmonary artery with systemic collateral supply and associated interstitial lung disease of the left lung. This case underscores the importance of considering UAPA in the differential diagnosis of unilateral lung pathology and highlights the role of timely recognition in reducing morbidity.

Unilateral absence of the pulmonary artery (UAPA), a rare congenital condition, is associated with pulmonary hypertension in 25% of cases. A 67-year-old Japanese woman presented with UAPA and progressive severe pulmonary arterial hypertension. During hospitalization for acute coronary syndrome 8 years ago, the patient experienced apnoea. A polysomnography test confirmed obstructive sleep apnoea syndrome. Home oxygen therapy (1 L/min) and continuous night-time positive pressure breathing therapy were initiated. Dyspnoea on exertion gradually worsened 1 year ago. The estimated right ventricular systolic pressure (RVSP) on echocardiography was elevated (73 mmHg). She was urgently admitted with progressive dyspnoea (World Health Organization [WHO] class II to class IV) and marked hypoxaemia, even when receiving oxygen (3 L/min). Isolated left UAPA with severe pulmonary hypertension was diagnosed based on right heart catheterization (RHC). The patient declined continuous subcutaneous prostacyclin analogue injection. Therefore, triple therapy with macitentan (10 mg), selexipag (0.4 mg), and riociguat (3 mg) was initiated. However, RVSP remained high during the first 3 months. The selexipag dose was titrated to 3.2 mg/day over 6 months, which improved RVSP to 32 mmHg on echocardiography and the mean pulmonary artery pressure on RHC decreased to 39 mmHg. One year later, due to recurrent dyspnoea on light exertion, iloprost inhalation therapy was initiated. The patient has since progressed well, maintaining WHO class II during a 7-year follow-up period. Prostacyclin inhalation combined with triple therapy can be an effective treatment strategy for patients with UAPA-associated pulmonary arterial hypertension.