Left hypoplastic lung and hemoptysis—rare familial unilateral pulmonary vein atresia

Abstract

Abstract Unilateral pulmonary vein atresia (UPVA) is a rare congenital vascular malformation with obliteration of the pulmonary vein. We present a case series of three siblings with variable presentation of UPVA. We suggest a dominant genetic cause based on different paternity. Identifying genetic etiology would contribute to early diagnosis and screening.

Keywords

• pulmonary hypertension (PH)
• pulmonary vein stenosis (PVS)
• unilateral pulmonary vein atresia (UPVA)