Aortopathies are diseases whose main manifestation (which is determinant for patient prognosis) is arterial disease, with the aorta being the most commonly affected artery. They can occur within the context of syndromic diseases (such as Marfan, Ehlers-Danlos, Loeys-Dietz, and Shprintzen-Goldberg syndromes, among others) and non-syndromic diseases (familial thoracic aortic aneurysm and/or dissection, or TAAD). Even within the first group, often the only evident clinical manifestation is an aortic or vascular event.
Most of these diseases follow an autosomal dominant pattern, with a significant percentage of sporadic cases due to a de novo variant. Penetrance and clinical expressivity, including age of onset of the disease, degree of dilatation, and location along the arterial tree depend on the specific genetic basis (affected gene and type and location of the detected variant).
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