{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T06:21:20Z","timestamp":1745734880160,"version":"3.30.2"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T00:00:00Z","timestamp":1700006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with Marfan syndrome (MFS) present with various symptoms, such as aortic aneurysm\/dissection, tall stature, and lens deviation. Among them, acute aortic dissection is a complication that leads to sudden death. Some individuals with MFS are reluctant to see a cardiologist and discontinue regular checkups until they develop life\u2010threatening complications. We conducted a grounded theory study to investigate how individuals with MFS decided whether to adhere to healthcare recommendations, specifically to attend cardiology appointments. The study recruited individuals with a clinical or genetic diagnosis of MFS from a Japanese university hospital and individuals from a support group. Semi\u2010structured interviews were conducted with 28 consenting participants. In this study, we identified the decision\u2010making processes of individuals with MFS concerning their cardiology visits. We extracted \u201cperception of the gap between their health status and medical recommendations\u201d as the central category. This decision\u2010making process consisted of three parts: (A) the process by which an individual with MFS sees a cardiologist for the first time, (B) the process by which an individual with MFS keeps up with cardiology checkups, and (C) the process by which parents bring their children with MFS to the cardiologist. Individuals who learned of the possibility of MFS decided whether to adhere to medical recommendations depending on how they perceived the gap between their health status and the medical recommendations. In addition to medical information and treatment experience, adaptation to MFS, which changed through interactions with others, influenced the perception of the gap. This study suggests the role of genetic counseling and molecular genetic diagnosis as factors that may facilitate adaptation to MFS. The involvement of genetic counselors is important for helping individuals with MFS keep up with regular checkups while affirming their own experiences. These results provide insight into adherence to medical recommendations for individuals with MFS.<\/jats:p>","DOI":"10.1002\/jgc4.1832","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T21:04:35Z","timestamp":1700082275000},"page":"1191-1203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Decision\u2010making processes behind seeking regular cardiac checkups for individuals with Marfan syndrome: A grounded theory study"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-4163-467X","authenticated-orcid":false,"given":"Sayoko","family":"Haruyama","sequence":"first","affiliation":[{"name":"Department of Medical Ethics Kyoto University School of Public Health  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masako","family":"Torishima","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Kyoto University Graduate School of Medicine  Kyoto Japan"},{"name":"Department of Clinical Genetics Units Kyoto University Hospital  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Kyoto University Graduate School of Medicine  Kyoto Japan"},{"name":"Department of Clinical Genetics Units Kyoto University Hospital  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahito","family":"Wada","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine Kyoto University Graduate School of Medicine  Kyoto Japan"},{"name":"Department of Clinical Genetics Units Kyoto University Hospital  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Kosugi","sequence":"additional","affiliation":[{"name":"Department of Medical Ethics Kyoto University School of Public Health  Kyoto Japan"},{"name":"Department of Genomic Medicine Kyoto University Graduate School of Medicine  Kyoto Japan"},{"name":"Department of Clinical Genetics Units Kyoto University Hospital  Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,11,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000054"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpcardiol.2007.10.001"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrtlng.2020.08.026"},{"issue":"8","key":"e_1_2_12_5_1","article-title":"Psycho\u2010social factors are important for the perception of disease in patients with acute coronary disease","volume":"61","author":"Bekke\u2010Hansen S.","year":"2014","journal-title":"Danish Medical Journal"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcts.2009.01.006"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2015.05.003"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.08.084"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1370\/afm.529"},{"volume-title":"The discovery of grounded theory: Strategies for qualitative research","year":"1967","author":"Glaser B.","key":"e_1_2_12_12_1"},{"issue":"3","key":"e_1_2_12_13_1","first-page":"185","article-title":"Effects of family history of diabetes mellitus on illness perception\u2013from the survey of the perception of diabetic patients","volume":"55","author":"Habuka M.","year":"2012","journal-title":"Journal of the Japan Diabetes Society"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100039\u2010z"},{"key":"e_1_2_12_15_1","unstructured":"Japan Intractable Diseases Information Center. 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