Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report-Reference-Cited by-同舟云学术

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Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report

Published:2020-07-06 Issue:1 Volume:20 Page:
ISSN:1471-2466
Container-title:BMC Pulmonary Medicine
language:en
Short-container-title:BMC Pulm Med

Author:

Zeng Xiaofang,Chen Fan,Rathinasabapathy Anandharajan,Li Tangzhiming,Adnan Ali Mohammed Mohammed Agila,Yu Zaixin

Funder

the National Natural Science Foundation of China

Major national science and technology projects

VUMC Faculty Research Scholars grant

Publisher

Springer Science and Business Media LLC

Subject

Pulmonary and Respiratory Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12890-020-01186-8.pdf

Reference22 articles.

1. Bal SK, Thangakunam B, Irodi A, Gupta M, Christopher DJ. Small sample lung biopsy findings in patients with Clinicoradiologic suspicion of pulmonary Venoocclusive disease-pulmonary capillary Hemangiomatosis. J Bronchology Interv Pulmonol. 2016;23(4):308–15.

2. Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmuller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, et al. Phenotypic characterization of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension. Circulation. 2017;136(21):2022–33.

3. Hajouli S, Moustafa MA, Memoli JSW. Pulmonary Veno-occlusive disease: a rare cause of pulmonary hypertension. J Investig Med High Impact Case Rep. 2019;7:2324709619840375.

4. Best DH, Sumner KL, Smith BP, Damjanovich-Colmenares K, Nakayama I, Brown LM, Ha Y, Paul E, Morris A, Jama MA, et al. EIF2AK4 mutations in patients diagnosed with pulmonary arterial hypertension. Chest. 2017;151(4):821–8.

5. Galie N, Humbert M, Vachiery JL, Gibbs S, Lang I, Torbicki A, Simonneau G, Peacock A, Vonk Noordegraaf A, Beghetti M, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Heart J. 2016;37(1):67–119.

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1. Conseil génétique et dépistage de l’hypertension artérielle pulmonaire – consensus du Consortium international pour les études génétiques dans l’HTAP – version française;Revue des Maladies Respiratoires;2023-11

2. Pulmonary veno-occlusive disease in Sjogren's syndrome: a case report;BMC Pulmonary Medicine;2023-01-18

3. A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease;BMC Pulmonary Medicine;2022-11-30

4. Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH;European Respiratory Journal;2022-10-27

5. Molecular genetics of pulmonary hypertension in children;Current Opinion in Genetics & Development;2022-08

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