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MSMDS is characterized by an increased susceptibility to aneurismal dilatations and dissections, patent ductus arteriosus, early onset coronary artery disease, congenital mydriasis, chronic interstitial lung disease, hypoperistalsis, hydrops of gall bladder, and hypotonic bladder. Here, we report an early diagnosis of a MSMDS related to <jats:italic>ACTA2<\/jats:italic> p.Arg179His (R179H) mutation in a newborn and performed a review of the literature. An early diagnosis of MSMDS is extremely important, because of the severe involvement of cardiovascular system in the MSMDS. Multidisciplinary care and surveillance and timely management of symptoms are important to reduce the risk of complications.<\/jats:p>","DOI":"10.1002\/ajmg.a.63118","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T18:18:02Z","timestamp":1673029082000},"page":"1111-1118","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal diagnosis of <scp>ACTA2<\/scp>\u2010related disease: A case report and review of literature"],"prefix":"10.1002","volume":"191","author":[{"given":"Viviana","family":"Lupo","sequence":"first","affiliation":[{"name":"Medical Genetics Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Grazia","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerarda","family":"Mastrogiorgio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monia","family":"Magliozzi","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Eleonora","family":"Scapillati","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vittorio","family":"Maglione","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester","family":"Romanelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caterina","family":"Alegiani","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Haass","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Unit San Pietro\u2014Fatebenefratelli Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,6]]},"reference":[{"issue":"9","key":"e_1_2_8_2_1","first-page":"e46","article-title":"Cerebral arteriopathy associated with Arg179His ACTA2 mutation","volume":"6","author":"Amans M. 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