{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:06:46Z","timestamp":1790179606165,"version":"4.1.0"},"reference-count":43,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Left ventricular (LV) noncompaction (LVNC) is a distinct cardiomyopathy featuring a thickened bilayered LV wall consisting of a thick endocardial layer with prominent intertrabecular recesses with a thin, compact epicardial layer. Similar to hypertrophic and dilated cardiomyopathy, LVNC is genetically heterogeneous and was recently associated with mutations in sarcomere genes. To contribute to the genetic classification for LVNC, a systematic cardiological family study was performed in a cohort of 58 consecutively diagnosed and molecularly screened patients with isolated LVNC (49 adults and 9 children).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>Combined molecular testing and cardiological family screening revealed that 67%of LVNC is genetic. Cardiological screening with electrocardiography and echocardiography of 194 relatives from 50 unrelated LVNC probands revealed familial cardiomyopathy in 32 families (64%), including LVNC, hypertrophic cardiomyopathy, and dilated cardiomyopathy. Sixty-three percent of the relatives newly diagnosed with cardiomyopathy were asymptomatic. Of 17 asymptomatic relatives with a mutation, 9 had noncompaction cardiomyopathy. In 8 carriers, nonpenetrance was observed. This may explain that 44% (14 of 32) of familial disease remained undetected by ascertainment of family history before cardiological family screening. The molecular screening of 17 genes identified mutations in 11 genes in 41% (23 of 56) tested probands, 35% (17 of 48) adults and 6 of 8 children. In 18 families, single mutations were transmitted in an autosomal dominant mode. Two adults and 2 children were compound or double heterozygous for 2 different mutations. One adult proband had 3 mutations. In 50% (16 of 32) of familial LVNC, the genetic defect remained inconclusive.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion\u2014<\/jats:title>\n            <jats:p>LVNC is predominantly a genetic cardiomyopathy with variable presentation ranging from asymptomatic to severe. Accordingly, the diagnosis of LVNC requires genetic counseling, DNA diagnostics, and cardiological family screening.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.109.903898","type":"journal-article","created":{"date-parts":[[2010,6,9]],"date-time":"2010-06-09T02:54:16Z","timestamp":1276052056000},"page":"232-239","source":"Crossref","is-referenced-by-count":207,"title":["The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy"],"prefix":"10.1161","volume":"3","author":[{"given":"Yvonne M.","family":"Hoedemaekers","sequence":"first","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kadir","family":"Caliskan","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Michels","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Frohn-Mulder","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper J.","family":"van der Smagt","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith E.","family":"Phefferkorn","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja W.","family":"Wessels","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Folkert J.","family":"ten Cate","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric J.G.","family":"Sijbrands","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Dooijes","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; and the Department of Medical Genetics (J.J.v.d.S.), University Medical Centre, Utrecht, The Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle F.","family":"Majoor-Krakauer","sequence":"additional","affiliation":[{"name":"From the Departments of Clinical Genetics (Y.M.H., J.E.P., M.W.W., D.D., D.F.M.-K.), Cardiology (K.C., M.M., F.J.t.C.), Pediatric Cardiology (I.F.-M.), and Internal Medicine (E.J.G.S.), Erasmus MC, Rotterdam, The Netherlands; 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