The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans

BACKGROUNDThe R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans.AIMSTo describe the phenotype associated with the R820W mutation identified in a human family.METHODSThe R820W was iden...

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Published in:International journal of cardiology 2010, Vol.145 (2), p.405-407
Main Authors: Ripoll Vera, Tomás, Monserrat Iglesias, Lorenzo, Hermida Prieto, Manuel, Ortiz, Martin, Rodriguez Garcia, Isabel, Govea Callizo, Nancy, Gómez Navarro, Carlos, Rosell Andreo, Jordi, Gámez Martínez, José María, Pons Lladó, Guillermo, Cremer Luengos, David, Torres Marqués, Joan
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container_issue 2
container_start_page 405
container_title International journal of cardiology
container_volume 145
creator Ripoll Vera, Tomás
Monserrat Iglesias, Lorenzo
Hermida Prieto, Manuel
Ortiz, Martin
Rodriguez Garcia, Isabel
Govea Callizo, Nancy
Gómez Navarro, Carlos
Rosell Andreo, Jordi
Gámez Martínez, José María
Pons Lladó, Guillermo
Cremer Luengos, David
Torres Marqués, Joan
description BACKGROUNDThe R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans.AIMSTo describe the phenotype associated with the R820W mutation identified in a human family.METHODSThe R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family.RESULTSThe index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years.CONCLUSIONThe R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.
doi_str_mv 10.1016/j.ijcard.2010.04.032
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Clinical and genetic studies of the R820W mutation were performed in her family.RESULTSThe index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years.CONCLUSIONThe R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.</description><identifier>EISSN: 1874-1754</identifier><identifier>DOI: 10.1016/j.ijcard.2010.04.032</identifier><language>eng</language><ispartof>International journal of cardiology, 2010, Vol.145 (2), p.405-407</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>786,790,4509,27958</link.rule.ids></links><search><creatorcontrib>Ripoll Vera, Tomás</creatorcontrib><creatorcontrib>Monserrat Iglesias, Lorenzo</creatorcontrib><creatorcontrib>Hermida Prieto, Manuel</creatorcontrib><creatorcontrib>Ortiz, Martin</creatorcontrib><creatorcontrib>Rodriguez Garcia, Isabel</creatorcontrib><creatorcontrib>Govea Callizo, Nancy</creatorcontrib><creatorcontrib>Gómez Navarro, Carlos</creatorcontrib><creatorcontrib>Rosell Andreo, Jordi</creatorcontrib><creatorcontrib>Gámez Martínez, José María</creatorcontrib><creatorcontrib>Pons Lladó, Guillermo</creatorcontrib><creatorcontrib>Cremer Luengos, David</creatorcontrib><creatorcontrib>Torres Marqués, Joan</creatorcontrib><title>The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans</title><title>International journal of cardiology</title><description>BACKGROUNDThe R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans.AIMSTo describe the phenotype associated with the R820W mutation identified in a human family.METHODSThe R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family.RESULTSThe index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years.CONCLUSIONThe R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.</description><issn>1874-1754</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2010</creationdate><recordtype>report</recordtype><recordid>eNqNjk9LxDAUxIMguP75Bh7ezcu2Jm13215dFC8LIgviaXmkb01Km9S-ROl38kPaBb2KlxkYfsOMENdKpkqq9W2b2lbj2KSZnCNZpDLPTsRCVWWRqHJVnIlz5lZKWdR1tRBfO0PwXGXyBfoYMFjvwDoIc7p9vXva5PBGjpaAzF5bDNTApw0GzDTQGEY_GKvhuGd9P_kBg5mOfY2Bl7NGJv6TRddAR4cAH-TCaHXscATnXaJ9P6D-_WNij44vxekBO6arH78QNw_3u81jMoz-PRKHfW9ZU9ehIx95X6n1Kqurss7_T34DWPhrfg</recordid><startdate>20101119</startdate><enddate>20101119</enddate><creator>Ripoll Vera, Tomás</creator><creator>Monserrat Iglesias, Lorenzo</creator><creator>Hermida Prieto, Manuel</creator><creator>Ortiz, Martin</creator><creator>Rodriguez Garcia, Isabel</creator><creator>Govea Callizo, Nancy</creator><creator>Gómez Navarro, Carlos</creator><creator>Rosell Andreo, Jordi</creator><creator>Gámez Martínez, José María</creator><creator>Pons Lladó, Guillermo</creator><creator>Cremer Luengos, David</creator><creator>Torres Marqués, Joan</creator><scope>7X8</scope></search><sort><creationdate>20101119</creationdate><title>The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans</title><author>Ripoll Vera, Tomás ; Monserrat Iglesias, Lorenzo ; Hermida Prieto, Manuel ; Ortiz, Martin ; Rodriguez Garcia, Isabel ; Govea Callizo, Nancy ; Gómez Navarro, Carlos ; Rosell Andreo, Jordi ; Gámez Martínez, José María ; Pons Lladó, Guillermo ; Cremer Luengos, David ; Torres Marqués, Joan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_8165298793</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2010</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Ripoll Vera, Tomás</creatorcontrib><creatorcontrib>Monserrat Iglesias, Lorenzo</creatorcontrib><creatorcontrib>Hermida Prieto, Manuel</creatorcontrib><creatorcontrib>Ortiz, Martin</creatorcontrib><creatorcontrib>Rodriguez Garcia, Isabel</creatorcontrib><creatorcontrib>Govea Callizo, Nancy</creatorcontrib><creatorcontrib>Gómez Navarro, Carlos</creatorcontrib><creatorcontrib>Rosell Andreo, Jordi</creatorcontrib><creatorcontrib>Gámez Martínez, José María</creatorcontrib><creatorcontrib>Pons Lladó, Guillermo</creatorcontrib><creatorcontrib>Cremer Luengos, David</creatorcontrib><creatorcontrib>Torres Marqués, Joan</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ripoll Vera, Tomás</au><au>Monserrat Iglesias, Lorenzo</au><au>Hermida Prieto, Manuel</au><au>Ortiz, Martin</au><au>Rodriguez Garcia, Isabel</au><au>Govea Callizo, Nancy</au><au>Gómez Navarro, Carlos</au><au>Rosell Andreo, Jordi</au><au>Gámez Martínez, José María</au><au>Pons Lladó, Guillermo</au><au>Cremer Luengos, David</au><au>Torres Marqués, Joan</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans</atitle><jtitle>International journal of cardiology</jtitle><date>2010-11-19</date><risdate>2010</risdate><volume>145</volume><issue>2</issue><spage>405</spage><epage>407</epage><pages>405-407</pages><eissn>1874-1754</eissn><notes>ObjectType-Case Study-3</notes><notes>ObjectType-Correspondence-1</notes><notes>content type line 59</notes><notes>SourceType-Reports-1</notes><notes>ObjectType-Report-2</notes><abstract>BACKGROUNDThe R820W mutation in the MYBPC3 gene has been associated with the development of hypertrophic cardiomyopathy (HCM) in rag-doll cats, but had not been described in humans.AIMSTo describe the phenotype associated with the R820W mutation identified in a human family.METHODSThe R820W was identified by direct sequencing of the MYBPC3 gene in a 47 year old woman with HCM and left ventricular non-compaction (LVNC). Clinical and genetic studies of the R820W mutation were performed in her family.RESULTSThe index patient was homozygous for the mutation and had no additional mutations in the main sarcomeric genes (MYH7, TNNT2, TNNI3, and TPM1). She had HCM with LVNC and normal systolic function. One brother had died suddenly at age 43 years. Another brother diagnosed of LVNC with severe systolic dysfunction and a cardiac arrest was also homozygous for the mutation. One heterozygous 31 year old sister, and three heterozygous sons of the index (ages 14, 20 and 23 years old) were clinically unaffected. The father of the index was apparently healthy and her mother had atrial fibrillation and an electrocardiographic diagnosis of left ventricular hypertrophy at age 86 years.CONCLUSIONThe R820W mutation in the MYBPC3 gene, previously associated with HCM in rag-doll cats, causes both HCM and LVNC in homozygous human carriers, with mild or null clinical expression in heterozygous carriers.</abstract><doi>10.1016/j.ijcard.2010.04.032</doi></addata></record>
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title The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans
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