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Published on: March 28, 2025
Familial acute aortic dissection associated with a novel ACTA2 germline variant
Thomas Strecker1, Felix Wiesmueller2, Sabine Rudnik-Schöneborn3
1Center of Cardiac Surgery, Friedrich-Alexander-University Erlangen-Nuremberg, Östliche Stadtmauerstraße 27, 91054, Erlangen, Germany. thomas.strecker@uk-erlangen.de.
Familial aortic dissection can be caused by genetic mutations. A novel ACTA2 gene variant was identified in a young male with familial acute aortic dissection, highlighting the importance of genetic testing for at-risk individuals.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Medical Diagnostics
Background:
- Aortic dissection is a critical cardiovascular condition.
- Hereditary factors contribute to a subset of aortic dissection cases.
- Identifying genetic causes is crucial for early detection and risk management in families.
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