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Article

[Familial pulmonary veno-occlusive disease with a composite biallelic heterozygous EIF2AK4 mutation].

Revue des maladies respiratoires - 1 Dec 2020

Treffel G, Guillaumot A, Gomez E, Eyries M, Petit I, Chabot J-F, Chaouat A

Abstract excerpt

Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypertension. Heritable and sporadic forms have been distinguished. Hypoxemia, profound reduction in the diffusion of carbon monoxide and haemodynamic confirmation of pre-capillary pulmonary hypertension are the major diagnostic criteria. Thoracic CT scanning and a response to pharmaceutical therapy provide additional information to confirm the...

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Identifiers

PMID: 33071063
DOI: 10.1016/j.rmr.2020.09.004

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