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How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance
Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascu...
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Published in: | Journal of cardiovascular magnetic resonance 2010-03, Vol.12 (1), p.13-13, Article 13 |
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creator | Germans, Tjeerd Rüssel, Iris K Götte, Marco J W Spreeuwenberg, Marieke D Doevendans, Pieter A Pinto, Yigal M van der Geest, Rob J van der Velden, Jolanda Wilde, Arthur A M van Rossum, Albert C |
description | Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers.
28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. LV mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3+/-0.2 versus 1.1+/-0.1, p |
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28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. LV mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3+/-0.2 versus 1.1+/-0.1, p<0.001). Also, LA volumes were larger in carriers compared to controls (p<0.05). Both peak SCS (p<0.05) and peak DCSR (p<0.01) were lower in carriers compared to controls, particularly in the basal lateral wall. Focal LGE was present in 2 carriers and not in controls. The combination of a SL ratio>1.2 and a peak DCSR<105%.s-1 was present in 45% of carriers and in none of the controls, yielding a positive predictive value of 100%. Two carriers and 18 controls had a SL ratio<1.2 and peak DCSR>105%.s-1, yielding a negative predictive value of 90%. With multivariate analysis, HCM mutation carriership was an independent determinant of reduced peak SCS and peak DCSR.
HCM mutation carriership is an independent determinant of reduced peak SCS and peak DCSR when LV wall thickness is within normal limits, and is associated with increased LA volumes and SL ratio. Using SL ratio and peak DCSR has a high accuracy to identify carriers. However, since carriers also display structural abnormalities and focal LGE, we advocate to also evaluate morphology and presence of LGE when screening for carriers.]]></description><identifier>ISSN: 1097-6647</identifier><identifier>ISSN: 1532-429X</identifier><identifier>EISSN: 1532-429X</identifier><identifier>DOI: 10.1186/1532-429X-12-13</identifier><identifier>PMID: 20230637</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Abnormalities ; Accuracy ; Adult ; Assessments ; Atrial Function, Left - genetics ; Blood pressure ; Cardiology ; Cardiomyopathy ; Cardiomyopathy, Hypertrophic - diagnosis ; Cardiomyopathy, Hypertrophic - genetics ; Cardiomyopathy, Hypertrophic - physiopathology ; Carriers ; Case-Control Studies ; Contrast Media ; Control equipment ; Echocardiography, Doppler ; Evaluation ; Family medical history ; Female ; Gadolinium DTPA ; Gene mutations ; Genetic aspects ; Genetic Predisposition to Disease ; Heart Atria - pathology ; Heart Atria - physiopathology ; Heart attacks ; Heart diseases ; Heart Ventricles - pathology ; Heart Ventricles - physiopathology ; Hospitals ; Humans ; Imaging ; Magnetic resonance ; Magnetic resonance imaging ; Magnetic Resonance Imaging, Cine ; Male ; Middle Aged ; Morphology ; Mutation ; Mutations ; Observer Variation ; Phenotype ; Physiological aspects ; Predictive Value of Tests ; Reproducibility of Results ; Software ; Ventricular Function, Left - genetics ; Wall thickness ; Writing</subject><ispartof>Journal of cardiovascular magnetic resonance, 2010-03, Vol.12 (1), p.13-13, Article 13</ispartof><rights>COPYRIGHT 2010 BioMed Central Ltd.</rights><rights>2010 Germans et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</rights><rights>Copyright ©2010 Germans et al; licensee BioMed Central Ltd. 2010 Germans et al; licensee BioMed Central Ltd.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b676t-47ab7d04c6fcbf5258f666dc454239f23df299b8af62c1345240e3ba153242963</citedby><cites>FETCH-LOGICAL-b676t-47ab7d04c6fcbf5258f666dc454239f23df299b8af62c1345240e3ba153242963</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842263/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1649254958?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25751,27922,27923,37010,37011,44588,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20230637$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Germans, Tjeerd</creatorcontrib><creatorcontrib>Rüssel, Iris K</creatorcontrib><creatorcontrib>Götte, Marco J W</creatorcontrib><creatorcontrib>Spreeuwenberg, Marieke D</creatorcontrib><creatorcontrib>Doevendans, Pieter A</creatorcontrib><creatorcontrib>Pinto, Yigal M</creatorcontrib><creatorcontrib>van der Geest, Rob J</creatorcontrib><creatorcontrib>van der Velden, Jolanda</creatorcontrib><creatorcontrib>Wilde, Arthur A M</creatorcontrib><creatorcontrib>van Rossum, Albert C</creatorcontrib><title>How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance</title><title>Journal of cardiovascular magnetic resonance</title><addtitle>J Cardiovasc Magn Reson</addtitle><description><![CDATA[Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers.
28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. LV mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3+/-0.2 versus 1.1+/-0.1, p<0.001). Also, LA volumes were larger in carriers compared to controls (p<0.05). Both peak SCS (p<0.05) and peak DCSR (p<0.01) were lower in carriers compared to controls, particularly in the basal lateral wall. Focal LGE was present in 2 carriers and not in controls. The combination of a SL ratio>1.2 and a peak DCSR<105%.s-1 was present in 45% of carriers and in none of the controls, yielding a positive predictive value of 100%. Two carriers and 18 controls had a SL ratio<1.2 and peak DCSR>105%.s-1, yielding a negative predictive value of 90%. With multivariate analysis, HCM mutation carriership was an independent determinant of reduced peak SCS and peak DCSR.
HCM mutation carriership is an independent determinant of reduced peak SCS and peak DCSR when LV wall thickness is within normal limits, and is associated with increased LA volumes and SL ratio. Using SL ratio and peak DCSR has a high accuracy to identify carriers. However, since carriers also display structural abnormalities and focal LGE, we advocate to also evaluate morphology and presence of LGE when screening for carriers.]]></description><subject>Abnormalities</subject><subject>Accuracy</subject><subject>Adult</subject><subject>Assessments</subject><subject>Atrial Function, Left - genetics</subject><subject>Blood pressure</subject><subject>Cardiology</subject><subject>Cardiomyopathy</subject><subject>Cardiomyopathy, Hypertrophic - diagnosis</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Cardiomyopathy, Hypertrophic - physiopathology</subject><subject>Carriers</subject><subject>Case-Control Studies</subject><subject>Contrast Media</subject><subject>Control equipment</subject><subject>Echocardiography, Doppler</subject><subject>Evaluation</subject><subject>Family medical history</subject><subject>Female</subject><subject>Gadolinium DTPA</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease</subject><subject>Heart Atria - pathology</subject><subject>Heart Atria - physiopathology</subject><subject>Heart attacks</subject><subject>Heart diseases</subject><subject>Heart Ventricles - pathology</subject><subject>Heart Ventricles - physiopathology</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Imaging</subject><subject>Magnetic resonance</subject><subject>Magnetic resonance imaging</subject><subject>Magnetic Resonance Imaging, Cine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Morphology</subject><subject>Mutation</subject><subject>Mutations</subject><subject>Observer Variation</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Predictive Value of Tests</subject><subject>Reproducibility of Results</subject><subject>Software</subject><subject>Ventricular Function, Left - genetics</subject><subject>Wall thickness</subject><subject>Writing</subject><issn>1097-6647</issn><issn>1532-429X</issn><issn>1532-429X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><sourceid>DOA</sourceid><recordid>eNp9k01v1DAQhiMEoqVw5oYsIQGXtP6IneQCWiqglSpxAYmbNXHsjUtib-2k1f4c_inOppQuqlAOjmaeeT1-x86ylwQfE1KJE8IZzQta_8gJzQl7lB3eRR6nf1yXuRBFeZA9i_ESY1KXuHyaHVBMGRasPMx-nfkb1HrUbTc6jMFvOquQgtBaP2z9BsZui4ZphNF6FxEYo9WIUmaHQI_M5NScQ9bNZcHqENGNHTvkfBgScAN9j8ak-tPpGD-gVYxpHbQbF2zZ6xqimnoIaIC102PqIejoHTiln2dPDPRRv7hdj7Lvnz99Oz3LL75-OT9dXeSNKMWYFyU0ZYsLJYxqDKe8MkKIVhW8oKw2lLWG1nVTgRFUEVZwWmDNGpj9SnYJdpSdL7qth0u5CXaAsJUerNwFfFhLCKmzXksgGFecCKx0WxjMmxKShk47MqixqJLW-0VrMzWDblU6bYB-T3Q_42wn1_5a0qqgVLAk8HERaNIcHhbYzyg_yPkoch69JFSSWeTtbRfBX006jnKwUem-B6f9FGXJGOOiKstEvvsvSYSoq5oSNtv0-h_00k_BpckkqqgpL2pe_aXWkPyyzvjUpZpF5YpSIqjgnCfq-AEqfa0erPJOG5viewVv7hV0Gvqxi76fdrdzHzxZQBV8jEGbO-sIlvPLecCsV_dHdsf_eSrsN4uSFfc</recordid><startdate>20100315</startdate><enddate>20100315</enddate><creator>Germans, Tjeerd</creator><creator>Rüssel, Iris K</creator><creator>Götte, Marco J W</creator><creator>Spreeuwenberg, Marieke D</creator><creator>Doevendans, Pieter A</creator><creator>Pinto, Yigal M</creator><creator>van der Geest, Rob J</creator><creator>van der Velden, Jolanda</creator><creator>Wilde, Arthur A M</creator><creator>van Rossum, Albert C</creator><general>BioMed Central Ltd</general><general>BioMed Central</general><general>Elsevier</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7SC</scope><scope>7SP</scope><scope>7U5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>JQ2</scope><scope>K9.</scope><scope>L7M</scope><scope>LK8</scope><scope>L~C</scope><scope>L~D</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>M7Z</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20100315</creationdate><title>How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance</title><author>Germans, Tjeerd ; Rüssel, Iris K ; Götte, Marco J W ; Spreeuwenberg, Marieke D ; Doevendans, Pieter A ; Pinto, Yigal M ; van der Geest, Rob J ; van der Velden, Jolanda ; Wilde, Arthur A M ; van Rossum, Albert C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b676t-47ab7d04c6fcbf5258f666dc454239f23df299b8af62c1345240e3ba153242963</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Abnormalities</topic><topic>Accuracy</topic><topic>Adult</topic><topic>Assessments</topic><topic>Atrial Function, Left - genetics</topic><topic>Blood pressure</topic><topic>Cardiology</topic><topic>Cardiomyopathy</topic><topic>Cardiomyopathy, Hypertrophic - diagnosis</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Cardiomyopathy, Hypertrophic - physiopathology</topic><topic>Carriers</topic><topic>Case-Control Studies</topic><topic>Contrast Media</topic><topic>Control equipment</topic><topic>Echocardiography, Doppler</topic><topic>Evaluation</topic><topic>Family medical history</topic><topic>Female</topic><topic>Gadolinium DTPA</topic><topic>Gene mutations</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease</topic><topic>Heart Atria - pathology</topic><topic>Heart Atria - physiopathology</topic><topic>Heart attacks</topic><topic>Heart diseases</topic><topic>Heart Ventricles - pathology</topic><topic>Heart Ventricles - physiopathology</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Imaging</topic><topic>Magnetic resonance</topic><topic>Magnetic resonance imaging</topic><topic>Magnetic Resonance Imaging, Cine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Morphology</topic><topic>Mutation</topic><topic>Mutations</topic><topic>Observer Variation</topic><topic>Phenotype</topic><topic>Physiological aspects</topic><topic>Predictive Value of Tests</topic><topic>Reproducibility of Results</topic><topic>Software</topic><topic>Ventricular Function, Left - genetics</topic><topic>Wall thickness</topic><topic>Writing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Germans, Tjeerd</creatorcontrib><creatorcontrib>Rüssel, Iris K</creatorcontrib><creatorcontrib>Götte, Marco J W</creatorcontrib><creatorcontrib>Spreeuwenberg, Marieke D</creatorcontrib><creatorcontrib>Doevendans, Pieter A</creatorcontrib><creatorcontrib>Pinto, Yigal M</creatorcontrib><creatorcontrib>van der Geest, Rob J</creatorcontrib><creatorcontrib>van der Velden, Jolanda</creatorcontrib><creatorcontrib>Wilde, Arthur A M</creatorcontrib><creatorcontrib>van Rossum, Albert C</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Computer and Information Systems Abstracts</collection><collection>Electronics & Communications Abstracts</collection><collection>Solid State and Superconductivity Abstracts</collection><collection>Health Medical collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>AUTh Library subscriptions: ProQuest Central</collection><collection>Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest Computer Science Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Advanced Technologies Database with Aerospace</collection><collection>Biological Sciences</collection><collection>Computer and Information Systems Abstracts Academic</collection><collection>Computer and Information Systems Abstracts Professional</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>PML(ProQuest Medical Library)</collection><collection>Biological Science Database</collection><collection>Biochemistry Abstracts 1</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest - 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Assessment with cardiovascular magnetic resonance</atitle><jtitle>Journal of cardiovascular magnetic resonance</jtitle><addtitle>J Cardiovasc Magn Reson</addtitle><date>2010-03-15</date><risdate>2010</risdate><volume>12</volume><issue>1</issue><spage>13</spage><epage>13</epage><pages>13-13</pages><artnum>13</artnum><issn>1097-6647</issn><issn>1532-429X</issn><eissn>1532-429X</eissn><abstract><![CDATA[Clinical data on myocardial function in HCM mutation carriers (carriers) is sparse but suggests that subtle functional abnormalities can be measured with tissue Doppler imaging before the development of overt hypertrophy. We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers.
28 carriers and 28 controls were studied. Global left atrial (LA) and left ventricular (LV) dimensions, segmental peak systolic circumferential strain (SCS) and peak diastolic circumferential strain rate (DCSR), as well as the presence of late Gadolinium enhancement (LGE) were determined with CMR. Septal and lateral myocardial velocities were measured with echocardiographic tissue Doppler imaging. LV mass and volumes were comparable between groups. Maximal septal to lateral wall thickness ratio (SL ratio) was larger in carriers than in controls (1.3+/-0.2 versus 1.1+/-0.1, p<0.001). Also, LA volumes were larger in carriers compared to controls (p<0.05). Both peak SCS (p<0.05) and peak DCSR (p<0.01) were lower in carriers compared to controls, particularly in the basal lateral wall. Focal LGE was present in 2 carriers and not in controls. The combination of a SL ratio>1.2 and a peak DCSR<105%.s-1 was present in 45% of carriers and in none of the controls, yielding a positive predictive value of 100%. Two carriers and 18 controls had a SL ratio<1.2 and peak DCSR>105%.s-1, yielding a negative predictive value of 90%. With multivariate analysis, HCM mutation carriership was an independent determinant of reduced peak SCS and peak DCSR.
HCM mutation carriership is an independent determinant of reduced peak SCS and peak DCSR when LV wall thickness is within normal limits, and is associated with increased LA volumes and SL ratio. Using SL ratio and peak DCSR has a high accuracy to identify carriers. However, since carriers also display structural abnormalities and focal LGE, we advocate to also evaluate morphology and presence of LGE when screening for carriers.]]></abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>20230637</pmid><doi>10.1186/1532-429X-12-13</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Abnormalities Accuracy Adult Assessments Atrial Function, Left - genetics Blood pressure Cardiology Cardiomyopathy Cardiomyopathy, Hypertrophic - diagnosis Cardiomyopathy, Hypertrophic - genetics Cardiomyopathy, Hypertrophic - physiopathology Carriers Case-Control Studies Contrast Media Control equipment Echocardiography, Doppler Evaluation Family medical history Female Gadolinium DTPA Gene mutations Genetic aspects Genetic Predisposition to Disease Heart Atria - pathology Heart Atria - physiopathology Heart attacks Heart diseases Heart Ventricles - pathology Heart Ventricles - physiopathology Hospitals Humans Imaging Magnetic resonance Magnetic resonance imaging Magnetic Resonance Imaging, Cine Male Middle Aged Morphology Mutation Mutations Observer Variation Phenotype Physiological aspects Predictive Value of Tests Reproducibility of Results Software Ventricular Function, Left - genetics Wall thickness Writing |
title | How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance |
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