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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
Main Authors: 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
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container_title Journal of cardiovascular magnetic resonance
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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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Assessment with cardiovascular magnetic resonance</title><source>Open Access: PubMed Central</source><source>ScienceDirect Journals</source><source>IngentaConnect Journals</source><source>ProQuest - Publicly Available Content Database</source><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</creator><creatorcontrib>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</creatorcontrib><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. 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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 &amp; 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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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source Open Access: PubMed Central; ScienceDirect Journals; IngentaConnect Journals; ProQuest - Publicly Available Content Database
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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