{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:33:08Z","timestamp":1777937588735,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:p>\n                    Hereditary connective tissue disease is known to cause aortic lesions at an early age. Familial aortic aneurysm\/dissection is caused due to an\n                    <jats:italic toggle=\"yes\">ACTA2<\/jats:italic>\n                    mutation that affects smooth muscle structure. We present a case of a 15-year-old boy with a mild developmental disorder in whom no abnormalities were identified on previous physical examinations. The patient presented with severe left heart failure, extensive dissection from the ascending aorta to the common iliac artery, and myocardial and cerebral infarctions. He underwent an urgent Bentall surgery. Six months later, the patient underwent surgical reconstruction of the abdominal aorta from the aortic arch and returned to normal daily activities. Pathological examination demonstrated the absence of elastic fibers but presence of abundant reticular fibers and mucopolysaccharides from the tunica intima to the media. Genetic testing revealed a heterozygous missense variant of the\n                    <jats:italic toggle=\"yes\">ACTA2<\/jats:italic>\n                    gene. To the best of our knowledge, this is the first sporadic case of structurally abnormal smooth muscle organization resulting in clinical symptoms with no previously reported pathogenicity.\n                  <\/jats:p>","DOI":"10.1177\/10935266231194701","type":"journal-article","created":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T15:20:06Z","timestamp":1694013606000},"page":"494-498","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Aortic Dissection and a Previously Unreported\n                    <i>ACTA2<\/i>\n                    Missense Variant Mutation in a Young Patient: A Case Report"],"prefix":"10.1177","volume":"26","author":[{"given":"Satoshi","family":"Marutani","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Kindai University, Osakasayama City, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takako","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Faculty of Medicine, Kindai University, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5750-3130","authenticated-orcid":false,"given":"Osamu","family":"Shimokawa","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Ritz Medical Co., Ltd., Tennoji, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritsuko K.","family":"Pooh","sequence":"additional","affiliation":[{"name":"CRIFM Prenatal Medical Center, Tennoji, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Morisaki","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Sakakibara Heart Institute, Fuchucity, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noburu","family":"Inamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Kindai University, Osakasayama City, Osaka, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,9,6]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.007"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"e_1_3_3_4_2","unstructured":"Genome Aggregation Database. gnomAD. 2014. Accessed April 26 2022. https:\/\/gnomad.broadinstitute.org\/"},{"key":"e_1_3_3_5_2","unstructured":"ClinVar. National Center for Biotechnology Information. 2013. Accessed April 26 2022. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_3_7_2","unstructured":"The ClinGen Sequence Variant Interpretation (SVI) Working Group. SVI recommendation for absence\/rarity (PM2) - version 1.0. 2020. Accessed April 7 2023. https:\/\/clinicalgenome.org\/site\/assets\/files\/5182\/pm2_-_svi_recommendation_-_approved_sept2020.pdf"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/circgenetics.114.000943"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.avsg.2021.05.034"},{"key":"e_1_3_3_10_2","unstructured":"OMIM. Online Mendelian Inheritance in Man. 1987. Accessed April 26 2022. https:\/\/www.omim.org\/"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2010.204388"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266231194701","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266231194701","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266231194701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:09:56Z","timestamp":1777694996000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266231194701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1177\/10935266231194701"],"URL":"https:\/\/doi.org\/10.1177\/10935266231194701","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9]]}}}