Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases.
Nobuhiro Ogasawara, Wakana Sato, Hiroko Morisaki et al.
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Case in brief
A 36-year-old woman presented with acute aortic dissection and required emergency surgery. Eight years later, her child was diagnosed with an aortic aneurysm; head MRI also showed periventricular nodular heterotopia. This finding prompted genetic testing, which identified mutations in both FLNA and MYH11. Testing of the mother subsequently found the same mutations. The report describes familial aortic disease in both patients associated with these double mutations.
What made this case unusual
The child’s periventricular nodular heterotopia on brain MRI prompted genetic testing that identified the shared FLNA and MYH11 mutations in the family.
Diagnostic / clinical pearl
Periventricular nodular heterotopia in a patient with an aortic aneurysm may prompt evaluation for FLNA and MYH11 mutations, including in relatives with aortic disease.