{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:15:24Z","timestamp":1762996524696,"version":"3.45.0"},"reference-count":4,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:00:00Z","timestamp":1760140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100018542","name":"Natural Science Foundation of Sichuan Province","doi-asserted-by":"publisher","award":["2024YFFK0272"],"award-info":[{"award-number":["2024YFFK0272"]}],"id":[{"id":"10.13039\/501100018542","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No.82370236"],"award-info":[{"award-number":["No.82370236"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["No.2022YFC2703902"],"award-info":[{"award-number":["No.2022YFC2703902"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>This report describes a novel prenatal presentation of PRKAG2 syndrome in a female. Delivered at 37 weeks, she had severe pulmonary valve stenosis, successfully treated with balloon dilation at one month. Early childhood featured persistent, asymptomatic sinus bradycardia and sinus node dysfunction, followed by childhood\u2010onset epilepsy. By age 8, she developed symptomatic bradycardia. Echocardiography revealed ventricular hypertrophy, and whole exome sequencing identified a heterozygous PRKAG2 variant (c.1642T &gt;C). This case expands the phenotype of PRKAG2 syndrome, uniquely combining congenital pulmonary stenosis with progressive conduction disease and epilepsy, distinct from severe fetal cardiomyopathy or Noonan syndrome.<\/jats:p>","DOI":"10.1002\/pd.6906","type":"journal-article","created":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T14:20:02Z","timestamp":1760192402000},"page":"1675-1679","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>PRKAG2<\/i>\n                    Syndrome Presenting With Fetal Sinus Bradycardia and Pulmonary Valve Stenosis as Initial Manifestations"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0129-0157","authenticated-orcid":false,"given":"Jiangping","family":"Wu","sequence":"first","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of Pediatrics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Sichuan Provincial Key Laboratory of Development and Women and Children\u2019 Diseases Sichuan University West China Second University Hospital  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuran","family":"Shao","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of Pediatrics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Sichuan Provincial Key Laboratory of Development and Women and Children\u2019 Diseases Sichuan University West China Second University Hospital  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaiyu","family":"Zhou","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of Pediatrics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Sichuan Provincial Key Laboratory of Development and Women and Children\u2019 Diseases Sichuan University West China Second University Hospital  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1364-5235","authenticated-orcid":false,"given":"Chuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of Pediatrics West China Second University Hospital Sichuan University  Chengdu Sichuan China"},{"name":"Sichuan Provincial Key Laboratory of Development and Women and Children\u2019 Diseases Sichuan University West China Second University Hospital  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63865"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/7640140"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1161\/circep.115.003121"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6906","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T01:13:28Z","timestamp":1762996408000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,11]]},"references-count":4,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/pd.6906"],"URL":"https:\/\/doi.org\/10.1002\/pd.6906","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"type":"print","value":"0197-3851"},{"type":"electronic","value":"1097-0223"}],"subject":[],"published":{"date-parts":[[2025,10,11]]},"assertion":[{"value":"2025-04-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}