{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:49:30Z","timestamp":1785422970683,"version":"3.56.0"},"reference-count":34,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"20","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2010,5,25]]},"abstract":"<jats:p>\n            <jats:bold>\n              <jats:italic>Background\u2014<\/jats:italic>\n            <\/jats:bold>\n            The term\n            <jats:italic>p<\/jats:italic>\n            <jats:italic>eripartum cardiomyopathy<\/jats:italic>\n            (PPCM) describes dilated cardiomyopathy (DCM) without known cause that occurs during the last month of pregnancy to 5 months postpartum. A related term,\n            <jats:italic>pregnancy<\/jats:italic>\n            <jats:italic>-<\/jats:italic>\n            <jats:italic>associated cardiomyopathy<\/jats:italic>\n            (PACM), refers to DCM onset earlier in pregnancy. Multiple studies have focused on inflammatory, immunologic, and environmental causes. An alternative hypothesis is that PPCM and PACM result, in part, from a genetic cause. In this study, we sought to test the hypothesis that rare DCM-associated mutations underlie a proportion of PACM or PPCM cases.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Methods and Results\u2014<\/jats:italic>\n            <\/jats:bold>\n            A systematic search of our DCM database designed for family-based genetic studies was undertaken for cases associated with pregnancy and the postpartum period; in the identified cases, clinical and molecular genetic data, including exonic and near intron\/exon boundaries of DCM genes, were analyzed. Of 4110 women from 520 pedigrees in the Familial Dilated Cardiomyopathy Research Project database, we identified 45 cases of PPCM\/PACM. Evidence of familial clustering with DCM was present in 23 unrelated cases. Of the 45 cases, 19 had been resequenced for known DCM genes, and 6 carried mutations. Five had PPCM, of which 3 were familial with mutations found in\n            <jats:italic>MYH7<\/jats:italic>\n            ,\n            <jats:italic>SCN5A<\/jats:italic>\n            , and\n            <jats:italic>PSEN2<\/jats:italic>\n            , and 2 were sporadic with mutations in\n            <jats:italic>MYH6<\/jats:italic>\n            and\n            <jats:italic>TNNT2<\/jats:italic>\n            . One case had PACM and carried a mutation in\n            <jats:italic>MYBPC3.<\/jats:italic>\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              <jats:italic>Conclusions\u2014<\/jats:italic>\n            <\/jats:bold>\n            These findings suggest that a proportion of PPCM\/PACM cases results from a genetic cause.\n          <\/jats:p>","DOI":"10.1161\/circulationaha.109.931220","type":"journal-article","created":{"date-parts":[[2010,5,11]],"date-time":"2010-05-11T04:29:30Z","timestamp":1273552170000},"page":"2176-2182","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":186,"title":["Rare Variant Mutations in Pregnancy-Associated or Peripartum Cardiomyopathy"],"prefix":"10.1161","volume":"121","author":[{"given":"Ana","family":"Morales","sequence":"first","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Painter","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ran","family":"Li","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill D.","family":"Siegfried","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duanxiang","family":"Li","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Norton","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ray E.","family":"Hershberger","sequence":"additional","affiliation":[{"name":"From the Cardiovascular Division, University of Miami Miller School of Medicine, Miami, Fla."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.44.5.964"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.44.6.1053"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006250-199908000-00030"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000162478.36652.7e"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.11.066"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1963.03620290117016"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(95)90032-2"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-5273(02)00357-1"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(84)90223-6"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dei116"},{"key":"e_1_3_2_11_2","first-page":"1109","volume":"31","year":"1986","unstructured":"Ferguson JE II, Harney KS, Bachicha JA. 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