Aortopathy Panel

Aortopathies are a group of disorders affecting the aorta, the largest artery in the body that carries blood from the heart to the rest of the body. These conditions can lead to a weakening, dilation (aneurysm), or tearing (dissection) of the aorta, posing serious health risks. They are the 18th most common cause of death, responsible for around 2% of all deaths in the world.

Some patients with an aortopathy may have a gene variant that predisposes to the development of aortic aneurysms which may or may not be part of a syndrome such as Marfan syndrome (FBN1 gene), Loeys-Dietz Syndrome (e.g: TGFBR1, TGFBR2, or SMAD3 genes), Shprintzen-Goldberg syndrome (SKI gene) and Ehlers-Danlos syndromes (e.g. COL1A1, COL5A1, or COL5A2 genes). These syndromes are often inherited in an autosomal dominant manner, which means that each child of an individual with these syndromes has a 50% chance of inheriting the pathogenic variant.