Late presentation of alveolar capillary dysplasia with misalignment of pulmonary veins presenting as refractory pulmonary hypertension in infancy
Abstract
Background: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD-MPV) is a rare congenital lung disorder characterized by abnormal pulmonary vascular and alveolar-capillary development, resulting in severe pulmonary hypertension (PH) that is typically refractory to therapy. Most affected infants present within the first days of life; however, delayed presentations can occur and are frequently misdiagnosed, leading to late recognition and rapid clinical deterioration.
Case presentation: We report a 7-month-old girl who presented with progressive respiratory distress and severe pulmonary hypertension without an immediately identifiable cause. Initial evaluation including cardiac imaging and laboratory investigations did not reveal a clear etiology. Despite supportive management and pulmonary vasodilator therapy, the patient demonstrated persistent pulmonary hypertension with clinical deterioration. Due to the unexplained and refractory nature of the disease, lung biopsy was performed and confirmed the diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins.
Conclusion: This case highlights the diagnostic challenges associated with atypical presentations of ACD-MPV beyond the neonatal period. Clinicians should consider this rare condition in infants with severe pulmonary hypertension that is disproportionate to initial findings and poorly responsive to therapy. Early recognition is essential for appropriate counselling and management…
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