{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:49:18Z","timestamp":1792460958320,"version":"4.5.0"},"reference-count":33,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background\u2014<\/jats:title>\n                    <jats:p>Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and Results\u2014<\/jats:title>\n                    <jats:p>\n                      Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study. There were 251 (61%) probands with no reported family history of HCM, including 166 (40% of total) probands with no sarcomere mutation, that is, nonfamilial HCM. Quantified family pedigree data revealed no difference in mean number of first-degree relatives screened between nonfamilial and sarcomere-positive groups. Adjusted predictors of nonfamilial status were older age (odds ratio, 1.04; 95% confidence interval, 1.02\u20131.06;\n                      <jats:italic>P<\/jats:italic>\n                      =0.0001), male sex (odds ratio, 1.96; 95% confidence interval, 1.11\u20133.45;\n                      <jats:italic>P<\/jats:italic>\n                      =0.02), hypertension (odds ratio, 2.80; 95% confidence interval, 1.57\u20135.00;\n                      <jats:italic>P<\/jats:italic>\n                      =0.0005), and nonasymmetric septal morphology (odds ratio, 3.41; 95% confidence interval, 1.64\u20137.08;\n                      <jats:italic>P<\/jats:italic>\n                      =0.001). They had a less severe clinical course with greater event-free survival from major cardiac events (\n                      <jats:italic>P<\/jats:italic>\n                      =0.04) compared with sarcomere-positive HCM probands. Genotype prediction scores showed good performance in identifying genotype-positive patients (area under the curve, 0.71\u20130.75) and, in combination with pedigree characteristics, were further improved.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions\u2014<\/jats:title>\n                    <jats:p>Approximately 40% of HCM probands have a nonfamilial subtype, with later onset and less severe clinical course. We propose a revised clinical pathway for management, highlighting the role of genetic testing, a detailed pedigree, and refined clinical surveillance recommendations for family members.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circgenetics.116.001620","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T21:10:28Z","timestamp":1492117828000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":221,"title":["Nonfamilial Hypertrophic Cardiomyopathy"],"prefix":"10.1161","volume":"10","author":[{"given":"Jodie","family":"Ingles","sequence":"first","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Burns","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard D.","family":"Bagnall","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lien","family":"Lam","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Yeates","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Sarina","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Puranik","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Briffa","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Atherton","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Driscoll","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Semsarian","sequence":"additional","affiliation":[{"name":"From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); 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