{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T11:30:14Z","timestamp":1788953414546,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in <jats:italic>ACTA2<\/jats:italic> predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. Here we examined the risk of aortic dissections, stroke and myocardial infarct with pregnancy in women with <jats:italic>ACTA2<\/jats:italic> mutations. Of the 53 women who had a total of 137 pregnancies, eight had aortic dissections in the third trimester or the postpartum period (6% of pregnancies). One woman also had a myocardial infarct that occurred during pregnancy that was independent of her aortic dissection. Compared to the population\u2010based frequency of peripartum aortic dissections of 0.6%, the rate of peripartum aortic dissections in women with <jats:italic>ACTA2<\/jats:italic> mutations is much higher (8 out of 39; 20%). Six of these dissections initiated in the ascending aorta (Stanford type A), three were fatal. Three women had ascending aortic dissections at diameters less that 5.0\u2009cm (range 3.8\u20134.7\u2009cm). Aortic pathology showed mild to moderate medial degeneration of the aorta in three women. Of note, five of the women had hypertension either during or before the pregnancy. In summary, the majority of women with <jats:italic>ACTA2<\/jats:italic> mutations did not have aortic or other vascular complications with pregnancy. However, these findings show that pregnancy is associated with significant risk for aortic dissection in women with <jats:italic>ACTA2<\/jats:italic> mutations. Women with <jats:italic>ACTA2<\/jats:italic> mutations who are planning to get pregnant should be counseled about this risk of aortic dissection, and proper clinical management should be initiated to reduce this risk. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36208","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T22:14:53Z","timestamp":1384553693000},"page":"106-112","source":"Crossref","is-referenced-by-count":46,"title":["Acute aortic dissections with pregnancy in women with <i>ACTA<\/i><i>2<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Ellen S.","family":"Regalado","sequence":"first","affiliation":[{"name":"Department of Internal Medicine University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010chuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony L.","family":"Estrera","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic and Vascular Surgery University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Maximilian","family":"Buja","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Texas Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2348"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2010.204388"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.6"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.007"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.006320"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0b013e3181d4739e"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.239"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342436"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.08.054"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2010.187"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(01)00314-1"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2349"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1997.tb11045.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(87)90146-3"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehi103"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.8.080706.092303"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33657"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21081"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aws172"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000130644.78677.2C"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2008.04.035"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.537340"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.95.10.2407"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.111.248161"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.08.079"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10237-013-0482-3"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(95)90655-X"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(00)80066-1"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.744"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.006"},{"key":"e_1_2_6_33_1","first-page":"278","article-title":"Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation","volume":"40","author":"Yoo EH","year":"2010","journal-title":"Ann Clin Lab Sci"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1721"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:33:42Z","timestamp":1696556022000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,15]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1002\/ajmg.a.36208"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36208","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,15]]}}}