Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4)mutation: a case report

Zeng, Xiaofang1; Chen, Fan1; Rathinasabapathy, Anandharajan2; Li, Tangzhiming3; Adnan Ali Mohammed Mohammed, Agila1; Yu, Zaixin1

2020-07-06

10.1186/s12890-020-01186-8

BMC Pulmonary Medicine   影响因子和分区

1471-2466

Background Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them. Case presentation 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 heterozygousEIF2AK4mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant susceptible factor driving PVOD. Combination of genetic testing and computed tomography artery facilitated us to distinguish PVOD from PAH. Her disease symptoms advanced aggressively so that she died even before the lung transplantation, which was less than 6 months from the onset of disease symptoms. Conclusion This case report highlights that novelEIF2AK4mutation at [c.4833_4836dup (p.Q1613Kfs*10)] would predict an aggressive phenotype of PVOD. Hence, we conclude that a genetic test identifyingEIF2AK4mutation would serve as a tool for the early diagnosis of PVOD, circumventing lung biopsy.

Pulmonary veno-occlusive disease Pulmonary hypertension EIF2AK4 Case report

SCI

英语

其他

National Natural Science Foundation of China[81873416] ; Major national science and technology projects - VUMC Faculty Research Scholars grant[R01 HL 095797-08]

Respiratory System

Respiratory System

WOS:000550064200001

BMC

Web of Science

1.Cent South Univ, Xiangya Hosp, Dept Cardiol, 87 Xiangya Rd, Changsha 410008, Hunan, Peoples R China
2.Vanderbilt Univ, Med Ctr, Div Allergy Pulm & Crit Care Med, 221 Kirkland Hall, Nashville, TN 37235 USA
3.Southern Univ Sci & Technol, Dept Cardiol, Clin Med Coll 2, Shenzhen Peoples Hosp,Jinan Univ,Affiliated Hosp, 1017 Dongmen North Rd, Shenzhen, Guangdong, Peoples R China

Zeng, Xiaofang,Chen, Fan,Rathinasabapathy, Anandharajan,et al. Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4)mutation: a case report[J]. BMC Pulmonary Medicine,2020,20(1).

Zeng, Xiaofang,Chen, Fan,Rathinasabapathy, Anandharajan,Li, Tangzhiming,Adnan Ali Mohammed Mohammed, Agila,&Yu, Zaixin.(2020).Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4)mutation: a case report.BMC Pulmonary Medicine,20(1).

Zeng, Xiaofang,et al."Rapid disease progress in a PVOD patient carrying a novel EIF(2)AK(4)mutation: a case report".BMC Pulmonary Medicine 20.1(2020).