- Familial Thoracic Aortic Aneurysm and dissection
- Thoracic aortopathy < 50 years with no other established risk factors
- Clinically diagnosed Marfan syndrome with no FBN1 mutation
- Loeys-Dietz syndrome and Loeys-Dietz syndrome like conditions
- Mutation negative Congenital Contractural Arachnodactyly (Beals syndrome)
- Patients suspected to have the above conditions.
- Sporadic thoracic aortopathies with risk factors.
- Family history with no affected proband to test.
Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes:
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- Loeys-Dietz syndrome TGFBR1 and TGFBR2
- Marfan Syndrome FBN1
- Congenital Contractural Arachnodactyly FBN2
- Isolated familial thoracic aortic aneurysms and dissection – ACTA2
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List