Individual with tetralogy of Fallot, interrupted aortic arch or truncus arteriosus, or other forms of congenital heart disease with cleft palate and / or disorder of calcium homeostasis
1. Thoracic aortic aneurysm* or dissection with onset before age 50, OR
2. Thoracic aortic aneurysm* or dissection with onset before age 60 with a first degree relative with thoracic aortic aneurysm or dissection, OR
3. Thoracic aortic aneurysm* or dissection before age 60 with no classical cardiovascular risk factors, OR
4. Thoracic aortic aneurysm* or dissection before age 60 with features suggestive of aortopathy, e.g. arterial tortuosity, OR
5. Clinical features suggestive of Loeys-Dietz syndrome, OR
6. Features of Marfan syndrome giving a systemic Ghent score of ≥7, following assessment by a clinical geneticist or specialist with expertise in aortopathy, OR
7. High clinical suspicion of a condition predisposing to aortic/arterial disease AND diagnostic testing for other conditions such as Ehlers Danlos syndrome (where indicated) has not identified a causative variant
8. Any deceased individual with a thoracic aortic aneurysm* or dissection detected at autopsy meeting one of the above criteria and who have relatives who will benefit from cascade testing using a genetic diagnosis will be suitable for post-mortem genetic testing.
*Thoracic aortic aneurysm defined as:
• In children: z score >2 for body surface area
• In adults: dilatation >38 mm

Testing should be carried out following assessment in a clinical service specialising in management of patients with aortopathy, including support from clinical genetics; testing may occasionally be appropriate outside these criteria following discussion in an aortic genetics MDT