A Challenging Case of Genetically and Histologically Diagnosed Pulmonary Veno-Occlusive Disease with Extracorporeal Life Support and Redo Lung Transplantation

Overview

Journal Case Rep Cardiol

Publisher Wiley

Specialty Cardiology & Vascular Diseases

Date 2023 Aug 31

PMID 37649985

Authors

Mohamed Laimoud

Ziyad Alanazi

Fayez Alahmadi

Abdullah Aldalaan

Affiliations

Soon will be listed here.

Abstract

Background: Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension characterized by diffuse venous vasculopathy and increased pulmonary vascular resistance resulting in right-sided heart failure. . A 22-year-old female patient started to have dyspnea with minimal effort and was diagnosed to have pre-capillary pulmonary hypertension (PH) with right-sided heart failure. Initially, she was diagnosed to have idiopathic PH. She developed life-threatening pulmonary oedema and cardiogenic shock after pulmonary vasodilator therapy. A genetic study was done and revealed the eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) gene on chromosome 15, which was diagnostic to heritable PVOD. After failure to achieve hemodynamic stabilization with conventional cardiopulmonary support measures, extracorporeal membrane oxygenation (ECMO) supported her till bilateral lung transplantation, which was unfortunately complicated by acute graft rejection. After a prolonged intensive care unit stay with 4-month ECMO support, the second bilateral lung transplantation was done, and the patient survived and was discharged.

Conclusions: Clinical recognition of PVOD is crucial due to its challenging diagnosis, need for genetic study, rapid deterioration with pulmonary vasodilators, and bad prognosis. Lung transplantation is the definitive treatment for eligible candidates.

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