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Peer-reviewedCC BY-NC-NDInternal Medicine

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
  • Hiroyuki Watanabe
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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.

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Cite

BibTeXRIS
BibTeX
@article{ogasawara2026double,
  title = {{Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases}},
  author = {Nobuhiro Ogasawara and Wakana Sato and Hiroko Morisaki and Hiroyuki Watanabe},
  journal = {Internal Medicine},
  year = {2026},
  month = oct,
  doi = {10.2169/internalmedicine.6761-25},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/65/20/65_6761-25/_article},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Double Mutations in the FLNA and MYH11 Genes Causing Familial Thoracic Aortic Aneurysm and Dissection: A Report of Two Cases
AU  - Nobuhiro Ogasawara
AU  - Wakana Sato
AU  - Hiroko Morisaki
AU  - Hiroyuki Watanabe
PY  - 2026
DA  - 2026/10/15
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.6761-25
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/65/20/65_6761-25/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -