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Published on: August 8, 2022
Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of
Nobuhiro Ogasawara1, Wakana Sato1, Hiroko Morisaki2
1Department of Cardiovascular Medicine, Akita University Graduate School of Medicine, Japan.
Abstract:
In some cases, familial thoracic aortic aneurysm and dissection (FTAAD) 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 MRI 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.
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