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- W4288060261 abstract "Aortic dissection is a life-threatening cardiovascular disease. Hereditary disorders are responsible for a small percentage of cases. Nonetheless, it is important to identify genetic causes, as they are often autosomal dominantly inherited and are of life-saving importance if we can identify persons at risk. Mutations of the ACTA2 gene are the most common cause of non-syndromic familial aortic disease. Exploration of the genetic background in suspected familial cases and determination of the exact etiology are mandatory for management and establishing appropriate follow-up strategies due to the risk of fatal recurrences. Herein, we present a 21-year-old male with a familial acute aortic dissection associated with novel ACTA2 germline variant and discuss the management and surveillance considerations." @default.
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- W4288060261 date "2022-07-28" @default.
- W4288060261 modified "2023-09-26" @default.
- W4288060261 title "Familial acute aortic dissection associated with a novel ACTA2 germline variant" @default.
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- W4288060261 doi "https://doi.org/10.1007/s00428-022-03366-9" @default.
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