- Subjects under suspicion of or clinically diagnosed with familial thoracic aortic aneurysms and dissections, whether in their syndromic (i.e. associated with a set of clinical characteristics including vascular involvement) or non-syndromic forms (when vascular involvement occurs in isolation).
- Familial study: A search for a mutation previously identified in a proband; relatives of affected patients in whom a pathogenic variant or a variant likely to be associated with the familial disease has been previously identified.
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