{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T02:46:39Z","timestamp":1793069199844,"version":"4.5.0"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T00:00:00Z","timestamp":1654560000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,8,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Aims<\/jats:title>\n                  <jats:p>Genetic testing in relatives of hypertrophic cardiomyopathy (HCM) patients leads to early identification of pathogenic DNA variant carriers (G+), before the onset of left ventricular hypertrophy. Routine phenotyping consists of electrocardiography (ECG) and transthoracic echocardiography (TTE). Cardiovascular magnetic resonance (CMR) has become valuable in the work-up of HCM. In this study, we investigated the value of CMR in phenotyping of G+ family members.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods and results<\/jats:title>\n                  <jats:p>This study included 91 G+ subjects who underwent ECG, TTE and CMR, with a maximal wall thickness (MWT) &amp;lt;15\u2005mm on TTE. The relative performance of TTE and CMR regarding wall thickness measurements and HCM diagnoses was assessed. HCM was defined as MWT of \u226513\u2005mm. Logistic regression was performed to assess whether ECG and TTE parameters can predict CMR results. Most subjects (75%) had an MWT &amp;lt;13\u2005mm on TTE, of which 23 (34%) were diagnosed with HCM based on CMR. MWT differences (range 1\u201310\u2005mm) were often caused by an anterobasal hook-shaped thickening of the myocardium not visible on TTE. Two of 23 (9%) subjects with HCM on TTE were reclassified as no HCM on CMR. Normal ECG and TTE results almost excluded reclassifications by CMR. The prevalence of other HCM-related abnormalities on CMR was low.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>CMR reclassified 27% of subjects. Subjects with normal ECG\/TTE results were reclassified in a low number of cases, justifying screening with ECG and TTE in G+ relatives. In subjects with abnormal ECGs and\/or poor TTE image quality, CMR is indicated.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjci\/jeac099","type":"journal-article","created":{"date-parts":[[2022,6,7]],"date-time":"2022-06-07T14:23:51Z","timestamp":1654611831000},"page":"1144-1154","source":"Crossref","is-referenced-by-count":16,"title":["Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance"],"prefix":"10.1093","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7405-8668","authenticated-orcid":false,"given":"Roy","family":"Huurman","sequence":"first","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2678-8521","authenticated-orcid":false,"given":"Nikki","family":"van der Velde","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6424-0754","authenticated-orcid":false,"given":"Arend F L","family":"Schinkel","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H Carlijne","family":"Hassing","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3792-615X","authenticated-orcid":false,"given":"Ricardo P J","family":"Budde","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon A","family":"van Slegtenhorst","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0340-3433","authenticated-orcid":false,"given":"Judith M A","family":"Verhagen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3315-2006","authenticated-orcid":false,"given":"Alexander","family":"Hirsch","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"},{"name":"Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam , Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6432-0431","authenticated-orcid":false,"given":"Michelle","family":"Michels","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Room Rg-419, Thoraxcenter, Erasmus MC, University Medical Center Rotterdam , Dr. Molewaterplein 40, Rotterdam 3015 GD , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,6,7]]},"reference":[{"key":"2022081019093274000_jeac099-B1","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"Elliott","year":"2014","journal-title":"Eur Heart 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