biostudies-literatureZeng XMajor national science and technology projectsVUMC Faculty Research Scholars grantthe National Natural Science Foundation of China186https://www.ebi.ac.uk/biostudies/studies/S-EPMC7336641biostudies-literatureUnknown20(1)<h4>Background</h4>Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them.<h4>Case presentation</h4>Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue even after minimal physical activity was clinically suspected for PAH, based on her previous history. Her chest computed tomography artery reported the presence of PVOD triad features - subpleural thickened septal lines, ground-glass nodules/opacities and mediastinal lymphadenopathy. Because of her weak physical stature, a lung biopsy was not performed; however, the genetic testing identified a novel heterozygous EIF2AK4 mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant susceptBMC pulmonary medicineRapid disease progress in a PVOD patient carrying a novel EIF₂AK₄ mutation: a case report.PMC7336641grant No.SQ2017ZX090304019grant No. 81873416Rathinasabapathy AAdnan Ali Mohammed Mohammed ALi TChen FZeng XYu ZfalseRapid disease progress in a PVOD patient carrying a novel EIF₂AK₄ mutation: a case report.<h4>Background</h4>Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them.<h4>Case presentation</h4>Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue even after minimal physical activity was clinically suspected for PAH, based on her previous history. Her chest computed tomography artery reported the presence of PVOD triad features - subpleural thickened septal lines, ground-glass nodules/opacities and mediastinal lymphadenopathy. Because of her weak physical stature, a lung biopsy was not performed; however, the genetic testing identified a novel heterozygous EIF2AK4 mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant suscept2020-01-01T00:00:00Z2020 Jul2025-04-26T08:11:21.838Z2025-04-06T12:37:43.81ZS-EPMC73366413263130310.1186/s12890-020-01186-8