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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 <jats:italic>ACTA2<\/jats:italic> 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 <jats:italic>ACTA2<\/jats:italic> germline variant and discuss the management and surveillance considerations.<\/jats:p>","DOI":"10.1007\/s00428-022-03366-9","type":"journal-article","created":{"date-parts":[[2022,7,28]],"date-time":"2022-07-28T01:38:22Z","timestamp":1658972302000},"page":"437-443","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Familial acute aortic dissection associated with a novel ACTA2 germline variant"],"prefix":"10.1007","volume":"482","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8292-7066","authenticated-orcid":false,"given":"Thomas","family":"Strecker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix","family":"Wiesmueller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Rudnik-Sch\u00f6neborn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliane","family":"Hoyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Weyand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abbas","family":"Agaimy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,7,28]]},"reference":[{"key":"3366_CR1","first-page":"644","volume":"30","author":"SM Yuan","year":"2015","unstructured":"Yuan SM (2015) \u03b1-Smooth muscle actin and ACTA2 gene expressions in vasculopathies. 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This manuscript was written in accordance with Declaration of Helsinki. Because this manuscript is only a retrospective description of a rare disease, an ethics committee was not necessary. Of course, we also obtained informed consent from the patient to publish the data.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}