{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T23:32:49Z","timestamp":1789169569996,"version":"build-2803163510"},"reference-count":42,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              <jats:italic>MYBPC3<\/jats:italic>\n              (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardiomyopathy (HCM) cases in the Netherlands. We compared clinical characteristics and outcome of\n              <jats:italic>MYBPC3<\/jats:italic>\n              founder mutation (FG+) HCM with nonfounder genotype-positive (G+) and genotype-negative (G\u2212) HCM.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              The study included 680 subjects: 271 FG+ carriers, 132 G+ probands with HCM, and 277 G\u2212 probands with HCM. FG+ carriers included 134 FG+ probands with HCM, 54 FG+ relatives diagnosed with HCM after family screening, 74 FG+\/phenotype-negative relatives, and 9 with noncompaction or dilated cardiomyopathy. The clinical phenotype of FG+ and G+ probands with HCM was similar. FG+ and G+ probands were younger with less left ventricular outflow tract obstruction than G\u2212 probands, however, had more hypertrophy, and nonsustained ventricular tachycardia. FG+ relatives with HCM had less hypertrophy, smaller left atria, and less systolic and diastolic dysfunction than FG+ probands with HCM. After 8\u00b16 years, cardiovascular mortality in FG+ probands with HCM was similar to G+ HCM (22% versus 14%; log-rank\n              <jats:italic>P<\/jats:italic>\n              =0.14), but higher than G\u2212 HCM (22% versus 6%; log-rank\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001) and FG+ relatives with HCM (22% versus 4%;\n              <jats:italic>P<\/jats:italic>\n              =0.009). Cardiac events were absent in FG+\/phenotype-negative relatives; subtle HCM developed in 11% during 6 years of follow-up.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>Clinical phenotype and outcome of FG+ HCM was similar to G+ HCM but worse than G\u2212 HCM and FG+ HCM diagnosed in the context of family screening. These findings indicate the need for more intensive follow-up of FG+ and G+ HCM versus G\u2212 HCM and FG+ HCM in relatives.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.116.001660","type":"journal-article","created":{"date-parts":[[2017,8,10]],"date-time":"2017-08-10T01:25:30Z","timestamp":1502328330000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":39,"title":["Clinical Characteristics and Long-Term Outcome of Hypertrophic Cardiomyopathy in Individuals With a MYBPC3 (Myosin-Binding Protein C) Founder Mutation"],"prefix":"10.1161","volume":"10","author":[{"given":"Hannah G.","family":"van Velzen","sequence":"first","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arend F.L.","family":"Schinkel","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogier A.","family":"Oldenburg","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon A.","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.E.","family":"Frohn-Mulder","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanda","family":"van der Velden","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); and Netherlands Heart Institute, Utrecht (J.v.d.V.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Michels","sequence":"additional","affiliation":[{"name":"From the Department of Cardiology, Thoraxcenter (H.G.v.V., A.F.L.S., M.M.), Department of Clinical Genetics (R.A.O., M.A.v.S.), and Department of Pediatrics (I.M.E.F.-M.), Erasmus Medical Center, Rotterdam, The Netherlands; Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands (J.v.d.V.); 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