- 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 above conditions.
- Sporadic thoracic aortopathies with risk factors
- Family history with no affected proband to test
Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
- 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.