Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers (DELPHI-4)

Assistance Publique - Hôpitaux de Paris

Status

Unknown

Conditions

Genetic Syndrome

Mutation

Treatments

Other: Screening of adult without diagnosis of PH carrying an heterozygous EIF2AK4 mutation.

Study type

Interventional

Funder types

Other

Identifiers

NCT03902353

K180501J

Details and patient eligibility

About

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

Full description

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.

Enrollment

20 estimated patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Male or female adult (age ≥18 years of age at the date of inclusion),
With an identification of the presence of a mutation of the EIF2AK4 gene in the heterozygous state,
Having given free and informed consent.

Exclusion criteria

Minor (age <18 years),
Patient with known Pulmonary veino occlusive disease or Pulmonary arterial hypertension
Woman having started a pregnancy or breastfeeding
protected adult persons,
Persons deprived of their liberty,
People in emergency,
Those who refused or were unable to give informed consent,
Contraindication to the exercise test (acute coronary syndrome, syncope, tight stenotic valve disease ...) See the list of relative and absolute contraindications to the exercise test (chapter 6.2).
No affiliation to a social security scheme (beneficiary or beneficiary).