Pulmonary arterial hypertension in a patient with unilateral pulmonary artery absence (RCD code: II-2A.1)

Abstract

Pulmonary artery absence is a rare congenital defect, occurring in 1 out of 100 000 individuals. In its isolated unilateral form only one in three cases concerns the left artery. The first symptoms usually appear in young age. Pulmonary hypertension associates this defect in 44% of patients. We present a 41-year-old female who was referred to our institution in January 2014 for further examination with preliminary diagnosis of central pulmonary embolism based on CT angiograms. There were also echocardiographic signs of pulmonary hypertension. The lady was severely dyspnoeic and her complaints included palpitations and dry cough. She had been previously treated for chronic bronchitis and sinusitis, allergic rash and anemia. In 2013 she also suffered left-sided pneumonia. Until December 2013 she had been a smoker. She gave birth thrice, all the pregnancies went uncomplicated. We established a final diagnosis of isolated unilateral left pulmonary artery absence without lung hypoplasia and precapillary pulmonary hypertension based on RHC. Therapy with sildenafil 20 mg tid was initiated and it was escalated shortly after to sildenafil plus iloprost due to the lack of clinical and hemodynamic improvement. Finally, being on dual therapy for 14 months now, the patient responded to treatment with symptomatic improvement from WHO class IV to class II. Furthermore there is a moderate regression of pulmonary vascular resistance and some improvement in cardiac index as documented in a follow-up RHC. The patient is listed for bilateral lung transplantation.