Mutation Clinical Trial
Official title:
Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers
Pulmonary Veino Occlusive Disease (PVOD) is a rare form of pulmonary arterial hypertension, characterised by a poor prognosis. Recent studies demonstrated that heritable form of pulmonary veino occlusive diseaseis due to bi-allelic mutations in EIF2AK4 gene. heritable pulmonary veino occlusive disease is an autosomal recessive disease. In the french referal center of severe PH, ulmonary veino occlusive disease patients carriers of bi-allelic mutations in EIF2AK4 gene were identified. Genetic counselling in these families allowed to identified herozygous carriers of a single mutation in EIF2AK4 gene. However, to date, nothing is known about the risk of these persons of developping pulmonary diseases. It appears essential to determine the clinical, functional, echocardiographic and radiologics characteristics of these persons, and their risk of developping Pulmonary veino occlusive disease
the investigators will evaluate the subjects at inclusion after informed by a clinical
evaluation (dyspnea assessed by New York Heart Association functional class (I-IV), signs of
right heart failure), a 6min walk test, a Computerized Tomography scan of the chest, an
electrocardiogram, an echocardiography , an abdomina ulstrasound, a Cardiopulmonary exercise
testing, a lung function tests , arterial blood gases.
At one and two years, a phone call will be made to to participants evaluate dyspnea and
intercurrent events in all subjects. In the presence of pulmonary veino occlusive diseaseis
symptoms, a new evaluation will be proposed in order to confirm of not pulmonary veino
occlusive diseaseis.
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