{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T09:25:21Z","timestamp":1784366721175,"version":"3.55.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS) affect multiple organ systems and provide a risk of acute aortic dissection, which causes lifelong uncertainties. Although health\u2010related quality of life (HRQOL) was found to be reduced in HTAD patients, no studies have evaluated male\u2013female\u2010specific aspects of HRQOL and coping in this population. This study aims to evaluate HRQOL in HTAD patients compared to the general population; assess male\u2013female differences in HRQOL and factors associated with HRQOL; evaluate coping styles in male and female HTAD patients and identify factors associated with acceptance. All consecutive adult patients who visited the specialized HTAD outpatient clinic between 2013 and 2018 were asked to complete three HRQOL questionnaires: the Short Form 36 (SF\u201036), the Hospital Anxiety and Depression Scale (HADS), and the Nijmegen Clinical Screening Instrument (NCSI). In total, 142 patients were included (mean age 42.1\u00a0years, 65 females, 123 MFS). Compared to the general population, HTAD patients scored significantly lower on multiple SF\u201036 sub\u2010domains (males: General Health 54.5\u00a0\u00b1\u00a018.8 vs. 71.6\u00a0\u00b1\u00a020.6, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.001; Vitality 58.3\u00a0\u00b1\u00a020.4 vs. 71.9\u00a0\u00b1\u00a018.3, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.001; females: Physical Functioning 67.5\u00a0\u00b1\u00a023.8 vs. 80.4\u00a0\u00b1\u00a024.2, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.003; Role Physical 58.3\u00a0\u00b1\u00a045.1 vs. 73.8\u00a0\u00b1\u00a038.5, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.047; General Health 49.4\u00a0\u00b1\u00a024.3 vs. 69.9\u00a0\u00b1\u00a020.6, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.001; Social Functioning 73.5\u00a0\u00b1\u00a022.0 vs. 82.0\u00a0\u00b1\u00a023.5, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.027). Females scored significantly lower than males on the SF\u201036 physical component score (41.6 [IQR 35.5\u201353.1] vs. 49.3 [IQR 42.3\u201354.6], <jats:italic>p<\/jats:italic>\u00a0=\u00a0.035). Males scored significantly higher on the coping style denial than females (2.75 [IQR 2.00\u20133.25] vs. 2.25 [IQR 1.75\u20133.25], <jats:italic>p<\/jats:italic>\u00a0=\u00a0.018). High scores on acceptance were found in 38 (26.8%) of HTAD patients, and these patients showed significantly better scores on the NCSI, SF\u201036, and HADS, except on NCSI Satisfaction Relationships and SF\u201036 Physical Functioning and Mental Health. Acceptance was associated with more medication use (beta blocker use, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.008; angiotensin receptor blocker use, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.003) and less hypertension (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.001). In patients with MFS, employment was strongly associated with better scores on the NCSI. In conclusion, HTAD patients showed subnormal HRQOL, especially females. Interestingly, in both males and females factors such as employment, coping style, and disease acceptance seem more important for HRQOL than disease\u2010related factors. This highlights the importance of genetic counseling and guidance for HTAD patients, and offers valuable leads for HRQOL improvement.<\/jats:p>","DOI":"10.1002\/jgc4.1288","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T10:17:56Z","timestamp":1591784276000},"page":"1259-1269","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Male\u2013female differences in quality of life and coping style in patients with Marfan syndrome and hereditary thoracic aortic diseases"],"prefix":"10.1002","volume":"29","author":[{"given":"Carlijn G. E.","family":"Thijssen","sequence":"first","affiliation":[{"name":"Department of Congenital Cardiology Erasmus MC Rotterdam The Netherlands"},{"name":"Department of Cardiology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne E.","family":"Doze","sequence":"additional","affiliation":[{"name":"Department of Cardiology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjen L.","family":"G\u00f6kalp","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke","family":"Timmermans","sequence":"additional","affiliation":[{"name":"Department of Cardiology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeannette B.","family":"Peters","sequence":"additional","affiliation":[{"name":"Department of Medical Psychology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura H. C.","family":"Elbers\u2010van de Ven","sequence":"additional","affiliation":[{"name":"Department of Medical Psychology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"van Royen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna J. M.","family":"Takkenberg","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolien W.","family":"Roos\u2010Hesselink","sequence":"additional","affiliation":[{"name":"Department of Congenital Cardiology Erasmus MC Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland R. 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