Overview
Number of centres planned : 16 centres in France
Type of study / Study design : Research Involving the Human Person category 2.
Multicentric. Prospective
Planning of the study : Total duration: 22 years. Recruitment period: 24 months. Follow-up
time per patients : 20 years
Expected number of cases : 300 index cases: 150 single index cases and 150 trio families
Treatment, procedure, combination of procedures under consideration :
- Blood samples for genetic analyses collected at the inclusion visit for patients and parents in case of trio families
Schedule of different visits and examinations :
Inclusion visit:
- Collection of demographic, clinical data from the index case and parents
- DNA sampling for genetic research (biocollection) of the index case or family trio
- Completion of the quality of life questionnaire
Annual visit with a 20 year follow-up:
- Retrieval of data from the index case
- Completion of the quality of life questionnaire
Eligibility
Inclusion Criteria:
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with healthy parents and no family history of congenital heart disease (familial trio)
- Or patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with or without a history of congenital heart disease (familial form or sporadic case)
- Affiliated or beneficiaries of a social security scheme or similar
- After obtaining oral consent from patients and/or parents if applicable
Parents (for family trios) :
- Biological parents of the child included in the PRECIPED study
Exclusion Criteria:
- Patients with transposition of the great arteries or transposition congenitally corrected of the great arteries with hypoplastic ventricle or atrioventricular and/or ventriculoarterial valve atresia
- Patient with an identified malformation syndrome
- Patients under guardianship/curatorship
- Patients with State Medical Aid
- Refusal of consent by the patient and/or one of the two parents