LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
We report a family with heterozygous deletion of exons 3-6 of the gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We...
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| Veröffentlicht in: | Genes 2022-01, Vol.13 (2), p.169 |
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| container_title | Genes |
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| creator | Keil, Laura Berisha, Filip Knappe, Dorit Kubisch, Christian Shoukier, Moneef Kirchhof, Paulus Fabritz, Larissa Hellenbroich, Yorck Woitschach, Rixa Magnussen, Christina |
| description | We report a family with heterozygous deletion of exons 3-6 of the
gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the
mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM. |
| doi_str_mv | 10.3390/genes13020169 |
| format | Article |
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gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the
mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13020169</identifier><identifier>PMID: 35205214</identifier><language>eng</language><publisher>Switzerland: MDPI AG</publisher><subject>Adult ; Age ; Aged ; Anaerobic threshold ; Cardiac arrhythmia ; Cardiomyocytes ; Cardiomyopathy ; Cardiomyopathy, Dilated ; Cardiovascular disease ; Case Report ; Congestive heart failure ; Death, Sudden, Cardiac - etiology ; Defibrillators ; Dyspnea ; Ejection fraction ; Electrocardiography ; Exons ; Female ; Gene deletion ; Gene expression ; Genetic diversity ; Genotype & phenotype ; Growth factors ; Heart Failure ; Heart transplantation ; Humans ; Kinases ; Lamin Type A - genetics ; Localization ; Magnetic resonance imaging ; Male ; Mutation ; Patients ; Protein expression ; Proteins ; Siblings ; Ventricle</subject><ispartof>Genes, 2022-01, Vol.13 (2), p.169</ispartof><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c382t-7ecc99c9873e0388d41e838332052ffda9e64279cd5be1311a29a15b64f887953</citedby><cites>FETCH-LOGICAL-c382t-7ecc99c9873e0388d41e838332052ffda9e64279cd5be1311a29a15b64f887953</cites><orcidid>0000-0002-1881-0197</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871815/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871815/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35205214$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Keil, Laura</creatorcontrib><creatorcontrib>Berisha, Filip</creatorcontrib><creatorcontrib>Knappe, Dorit</creatorcontrib><creatorcontrib>Kubisch, Christian</creatorcontrib><creatorcontrib>Shoukier, Moneef</creatorcontrib><creatorcontrib>Kirchhof, Paulus</creatorcontrib><creatorcontrib>Fabritz, Larissa</creatorcontrib><creatorcontrib>Hellenbroich, Yorck</creatorcontrib><creatorcontrib>Woitschach, Rixa</creatorcontrib><creatorcontrib>Magnussen, Christina</creatorcontrib><title>LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death</title><title>Genes</title><addtitle>Genes (Basel)</addtitle><description>We report a family with heterozygous deletion of exons 3-6 of the
gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the
mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM.</description><subject>Adult</subject><subject>Age</subject><subject>Aged</subject><subject>Anaerobic threshold</subject><subject>Cardiac arrhythmia</subject><subject>Cardiomyocytes</subject><subject>Cardiomyopathy</subject><subject>Cardiomyopathy, Dilated</subject><subject>Cardiovascular disease</subject><subject>Case Report</subject><subject>Congestive heart failure</subject><subject>Death, Sudden, Cardiac - etiology</subject><subject>Defibrillators</subject><subject>Dyspnea</subject><subject>Ejection fraction</subject><subject>Electrocardiography</subject><subject>Exons</subject><subject>Female</subject><subject>Gene deletion</subject><subject>Gene expression</subject><subject>Genetic diversity</subject><subject>Genotype & phenotype</subject><subject>Growth factors</subject><subject>Heart Failure</subject><subject>Heart transplantation</subject><subject>Humans</subject><subject>Kinases</subject><subject>Lamin Type A - genetics</subject><subject>Localization</subject><subject>Magnetic resonance imaging</subject><subject>Male</subject><subject>Mutation</subject><subject>Patients</subject><subject>Protein expression</subject><subject>Proteins</subject><subject>Siblings</subject><subject>Ventricle</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNpVkM1PAjEQxRujEYIcvZomnlf7tWx7MSEoYAJ6QM9N6XahBFpsuxr-e5eABnqZTuY3b14eALcYPVAq0OPCOBMxRQThnrgAbYIKmjFG8suTfwt0Y1yh5rEGRPk1aNGcoJxg1gajyfStD6d1Usl6B62DCg7Vxq538MemZdPNUvBuAcc2Jh920FdwVpelcXCgQmmVhs9GpeUNuKrUOprusXbA5_DlYzDOJu-j10F_kmnKScoKo7UQWvCCGkQ5Lxk2nHJK936qqlTC9BgphC7zucEUY0WEwvm8xyrOC5HTDng66G7r-caU2rgU1Fpug92osJNeWXk-cXYpF_5bNuuY473A_VEg-K_axCRXvg6u8SxJj5KCIVzwhsoOlA4-xmCq_wsYyX308iz6hr87tfVP_wVNfwEXmn2_</recordid><startdate>20220119</startdate><enddate>20220119</enddate><creator>Keil, Laura</creator><creator>Berisha, Filip</creator><creator>Knappe, Dorit</creator><creator>Kubisch, Christian</creator><creator>Shoukier, Moneef</creator><creator>Kirchhof, Paulus</creator><creator>Fabritz, Larissa</creator><creator>Hellenbroich, Yorck</creator><creator>Woitschach, Rixa</creator><creator>Magnussen, Christina</creator><general>MDPI AG</general><general>MDPI</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>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-1881-0197</orcidid></search><sort><creationdate>20220119</creationdate><title>LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death</title><author>Keil, Laura ; Berisha, Filip ; Knappe, Dorit ; Kubisch, Christian ; Shoukier, Moneef ; Kirchhof, Paulus ; Fabritz, Larissa ; Hellenbroich, Yorck ; Woitschach, Rixa ; Magnussen, Christina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c382t-7ecc99c9873e0388d41e838332052ffda9e64279cd5be1311a29a15b64f887953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adult</topic><topic>Age</topic><topic>Aged</topic><topic>Anaerobic threshold</topic><topic>Cardiac arrhythmia</topic><topic>Cardiomyocytes</topic><topic>Cardiomyopathy</topic><topic>Cardiomyopathy, Dilated</topic><topic>Cardiovascular disease</topic><topic>Case Report</topic><topic>Congestive heart failure</topic><topic>Death, Sudden, Cardiac - etiology</topic><topic>Defibrillators</topic><topic>Dyspnea</topic><topic>Ejection fraction</topic><topic>Electrocardiography</topic><topic>Exons</topic><topic>Female</topic><topic>Gene deletion</topic><topic>Gene expression</topic><topic>Genetic diversity</topic><topic>Genotype & phenotype</topic><topic>Growth factors</topic><topic>Heart Failure</topic><topic>Heart transplantation</topic><topic>Humans</topic><topic>Kinases</topic><topic>Lamin Type A - genetics</topic><topic>Localization</topic><topic>Magnetic resonance imaging</topic><topic>Male</topic><topic>Mutation</topic><topic>Patients</topic><topic>Protein expression</topic><topic>Proteins</topic><topic>Siblings</topic><topic>Ventricle</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Keil, Laura</creatorcontrib><creatorcontrib>Berisha, Filip</creatorcontrib><creatorcontrib>Knappe, Dorit</creatorcontrib><creatorcontrib>Kubisch, Christian</creatorcontrib><creatorcontrib>Shoukier, Moneef</creatorcontrib><creatorcontrib>Kirchhof, Paulus</creatorcontrib><creatorcontrib>Fabritz, Larissa</creatorcontrib><creatorcontrib>Hellenbroich, Yorck</creatorcontrib><creatorcontrib>Woitschach, Rixa</creatorcontrib><creatorcontrib>Magnussen, Christina</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Keil, Laura</au><au>Berisha, Filip</au><au>Knappe, Dorit</au><au>Kubisch, Christian</au><au>Shoukier, Moneef</au><au>Kirchhof, Paulus</au><au>Fabritz, Larissa</au><au>Hellenbroich, Yorck</au><au>Woitschach, Rixa</au><au>Magnussen, Christina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death</atitle><jtitle>Genes</jtitle><addtitle>Genes (Basel)</addtitle><date>2022-01-19</date><risdate>2022</risdate><volume>13</volume><issue>2</issue><spage>169</spage><pages>169-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>We report a family with heterozygous deletion of exons 3-6 of the
gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We report on two siblings, a 36-year-old female and her 40-year-old brother, who suffer from heart failure with mildly reduced ejection fraction, AV conduction delays and premature ventricular complexes. Their 65-year-old mother underwent heart transplantation at the age of 55 due to advanced heart failure. Originally, the
mutation was detected in one of the uncles. This index patient and three of his brothers died of SCD as well as their father and aunt. The two siblings were treated with implanted defibrillators in our specialized tertiary heart failure center. This case report places this specific genetic variant in the context of LMNA-associated familial DCM.</abstract><cop>Switzerland</cop><pub>MDPI AG</pub><pmid>35205214</pmid><doi>10.3390/genes13020169</doi><orcidid>https://orcid.org/0000-0002-1881-0197</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Age Aged Anaerobic threshold Cardiac arrhythmia Cardiomyocytes Cardiomyopathy Cardiomyopathy, Dilated Cardiovascular disease Case Report Congestive heart failure Death, Sudden, Cardiac - etiology Defibrillators Dyspnea Ejection fraction Electrocardiography Exons Female Gene deletion Gene expression Genetic diversity Genotype & phenotype Growth factors Heart Failure Heart transplantation Humans Kinases Lamin Type A - genetics Localization Magnetic resonance imaging Male Mutation Patients Protein expression Proteins Siblings Ventricle |
| title | LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death |
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