What question did this study set out to answer?

This research investigates the relationship between mutations in FLNA and MYH11 genes and familial thoracic aortic aneurysms.

February 26, 2026Internal Medicine0 citationsOpen Access

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

NONobuhiro OgasawaraAkita University WSWakana SatoVascular / Pulmonary Vascular HMHiroko MorisakiVascular Medicine

Key Points

This research investigates the relationship between mutations in FLNA and MYH11 genes and familial thoracic aortic aneurysms.
Documented medical history of two patients with familial thoracic aortic conditions.
Utilized MRI to identify associated neurological conditions in Patient 2.
Performed genetic testing for FLNA and MYH11 mutations in both patients.
Patient 1 presented with acute aortic dissection requiring surgery.
Patient 2 diagnosed with an aortic aneurysm and revealed periventricular nodular heterotopia.
Both patients tested positive for the same double mutations in FLNA and MYH11 genes.

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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Cite This Study

Ogasawara et al. (Thu,) studied this question.

synapsesocial.com/papers/699fe24b95ddcd3a253e6353 https://doi.org/https://doi.org/10.2169/internalmedicine.6761-25

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