Aortic and vascular disorders [81 genes]

This panel includes a group of diseases of genetic origin associated with the development of, or predisposition to, aneurysms, dissections, and rupture of the aorta or other branches of the arterial tree.

Even though the pathophysiological mechanism associated with the development of such diseases can be different, often the only evident clinical manifestation is an aortic or vascular event. Among these pathologies are diseases of the connective tissue, such as Marfan, LoeysDietz, Ehlers-Danlos, and Shprintzen-Goldberg genetic syndromes, and familial thoracic aortic aneurysms and dissections (TAAD). The majority of them are inherited in an autosomal dominant pattern, with a significant proportion of sporadic cases due to de novo variants.

Their penetrance and clinical expressivity, including the age of disease onset, the degree of dilatation, and the location of the manifestations in the arterial tree, depend on the type of syndrome, the affected gene, and the type of variant involved.

• 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.

The probability of identifying a variant associated with familial thoracic aortic aneurysms and dissections depends on how distinct the clinical manifestations of the disease are, on the clinical picture, and on the suspected syndrome. It can reach values over 90%-95% in cases with Marfan syndrome, while it is lower for other etiologies such as familial thoracic aortic aneurysms and dissections.