When you hear hoofbeats, think zebras – pulmonary veno‐occlusive disease: A case report. (9th August 2022)

• Record Type: Journal Article
• Authors: Scelsi, Laura; Lanzillo, Giuseppe; Arbustini, Eloisa; D'Armini, Andrea; Greco, Alessandra; Meloni, Federica; Turco, Annalisa; Valentini, Adele; Oltrona Visconti, Luigi; Ghio, Stefano
• Is Part Of: Pulmonary circulation. Volume 12:Number 3(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-08-09
• Subjects: cardiovascular diseases -- pulmonary heart disease -- transplantation -- vascular remodeling; Pulmonary circulation -- Periodicals; Pulmonary circulation; Electronic journals -- Sciences; Periodicals; 616.24005
• DOI: 10.1002/pul2.12095
• Languages: English
• ISSNs: 2045-8932

Abstract

Abstract: Pulmonary veno‐occlusive disease (PVOD) is a rare disease. It may be idiopathic or associated, in particular, with connective tissue disease, or it may develop after radiation exposure; in heritable forms of PVOD, the inheritance is autosomal recessive due to the presence of homozygous or compound heterozygous pathogenic variants in the EIF2AK4 gene. We describe the case of a young man whose PVOD was initially misdiagnosed as chronic thromboembolic pulmonary hypertension despite worsening after riociguat, nonspecific computed tomography pulmonary angiogram findings, and parental consanguinity could suggest an autosomal recessive disease. The correct diagnosis and the correct treatment are crucial given the high mortality rate of this disease.