Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
National Heart, Lung, and Blood Institute (NHLBI)
With
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Age
Any age
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
Eligible subjects must have one of the conditions listed below and be enrolled in-person at one of the participating clinical centers.Contact the study coordinator at the location nearest you for more information about participation.
Marfan syndrome
Turner syndrome
Ehlers-Danlos syndrome
Loeys-Dietz syndrome
FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 genetic mutation
Bicuspid aortic valve without known family history
Bicuspid aortic valve with family history
Bicuspid aortic valve with coarctation
Familial Thoracic Aortic Aneurysm and DissectionsYes
Shprintzen-Goldberg syndrome
Other aneurysms and dissections of the thoracic aorta not due to trauma, \<50yo
Other congenital heart disease (e.g., Tetralogy of Fallot, coarctation)
You may not be if
Inability of the patient, parent or guardian to give consent.
Unwillingness to provide a blood or buccal specimen.
