Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.

Abstract

In some cases, familial thoracic aortic aneurysm and dissection is caused by multiple gene mutations. A 36-year-old woman (Patient 1) experienced acute aortic dissection requiring emergency surgery. Eight years later, her child (Patient 2) was diagnosed with an aortic aneurysm, and head magnetic resonance imaging revealed periventricular nodular heterotopia, thus prompting genetic testing to identify possible mutations in the FLNA and MYH11 genes. Subsequently, Patient 1 underwent genetic testing, which revealed the same mutations. Double mutations in FLNA and MYH11 can lead to aortic aneurysms and aortic dissection, while often manifesting at a young age.