A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction
Abstract A male infant was born to a 38-year-old G1P0 mother with hypertrophic cardiomyopathy (HCM). Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but pre...
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| Veröffentlicht in: | Canadian journal of cardiology 2014-10, Vol.30 (10), p.1249.e1-1249.e3 |
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| container_end_page | 1249.e3 |
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| container_title | Canadian journal of cardiology |
| container_volume | 30 |
| creator | Haberer, Kim, BA, MA, MD Buffo-Sequeira, Ilan, MD Chudley, Albert E., MD, FRCPC, FCCMG Spriggs, Elizabeth, PhD, FCCMG Sergi, Consolato, MD, PhD, FRCPC |
| description | Abstract A male infant was born to a 38-year-old G1P0 mother with hypertrophic cardiomyopathy (HCM). Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but presented at 2 months of age in cardiogenic shock. On genetic analysis, both parents were heterozygous for mutations associated with HCM. The proband was a compound heterozygote. This case, in which 2 mutations for HCM produced a phenotype of LVNC, has not been demonstrated in humans and raises the question of whether HCM and LVNC represent a continuum of pathologic processes. |
| doi_str_mv | 10.1016/j.cjca.2014.05.021 |
| format | Article |
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Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but presented at 2 months of age in cardiogenic shock. On genetic analysis, both parents were heterozygous for mutations associated with HCM. The proband was a compound heterozygote. This case, in which 2 mutations for HCM produced a phenotype of LVNC, has not been demonstrated in humans and raises the question of whether HCM and LVNC represent a continuum of pathologic processes.</description><identifier>ISSN: 0828-282X</identifier><identifier>EISSN: 1916-7075</identifier><identifier>DOI: 10.1016/j.cjca.2014.05.021</identifier><identifier>PMID: 25262865</identifier><language>eng</language><publisher>England: Elsevier Inc</publisher><subject>Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging ; Cardiomyopathy, Hypertrophic, Familial - genetics ; Cardiomyopathy, Hypertrophic, Familial - pathology ; Cardiovascular ; Disease Progression ; Heart Defects, Congenital - diagnostic imaging ; Heart Defects, Congenital - genetics ; Heart Defects, Congenital - pathology ; Heart Ventricles - diagnostic imaging ; Heart Ventricles - pathology ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Mutation ; Myocardium - pathology ; Phenotype ; Shock, Cardiogenic - pathology ; Ultrasonography, Prenatal</subject><ispartof>Canadian journal of cardiology, 2014-10, Vol.30 (10), p.1249.e1-1249.e3</ispartof><rights>Canadian Cardiovascular Society</rights><rights>2014 Canadian Cardiovascular Society</rights><rights>Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c481t-c0a8c1da8467ad7ce716e260e3a3ed8027922eefbb43f079dfe9c60f0f3420033</citedby><cites>FETCH-LOGICAL-c481t-c0a8c1da8467ad7ce716e260e3a3ed8027922eefbb43f079dfe9c60f0f3420033</cites><orcidid>0000-0002-2779-7879</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0828282X14003869$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25262865$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Haberer, Kim, BA, MA, MD</creatorcontrib><creatorcontrib>Buffo-Sequeira, Ilan, MD</creatorcontrib><creatorcontrib>Chudley, Albert E., MD, FRCPC, FCCMG</creatorcontrib><creatorcontrib>Spriggs, Elizabeth, PhD, FCCMG</creatorcontrib><creatorcontrib>Sergi, Consolato, MD, PhD, FRCPC</creatorcontrib><title>A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction</title><title>Canadian journal of cardiology</title><addtitle>Can J Cardiol</addtitle><description>Abstract A male infant was born to a 38-year-old G1P0 mother with hypertrophic cardiomyopathy (HCM). Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but presented at 2 months of age in cardiogenic shock. On genetic analysis, both parents were heterozygous for mutations associated with HCM. The proband was a compound heterozygote. This case, in which 2 mutations for HCM produced a phenotype of LVNC, has not been demonstrated in humans and raises the question of whether HCM and LVNC represent a continuum of pathologic processes.</description><subject>Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging</subject><subject>Cardiomyopathy, Hypertrophic, Familial - genetics</subject><subject>Cardiomyopathy, Hypertrophic, Familial - pathology</subject><subject>Cardiovascular</subject><subject>Disease Progression</subject><subject>Heart Defects, Congenital - diagnostic imaging</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Heart Defects, Congenital - pathology</subject><subject>Heart Ventricles - diagnostic imaging</subject><subject>Heart Ventricles - pathology</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Mutation</subject><subject>Myocardium - pathology</subject><subject>Phenotype</subject><subject>Shock, Cardiogenic - pathology</subject><subject>Ultrasonography, Prenatal</subject><issn>0828-282X</issn><issn>1916-7075</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kk9v1DAQxSMEotvCF-CAfOSyy9hJnERCSNUK2EoLVOLvzfI6465DYqe2g5R-Cj4yjrZw4MBpLu_9Rm_eZNkzChsKlL_sNqpTcsOAFhsoN8Dog2xFG8rXFVTlw2wFNavXrGbfz7LzEDqAglYVf5ydsZJxVvNylf26JFsZkDhNpCVXVksbyTcTj2TrhtFNtiU7jOjd3XzjpkDeT1FG42wg2nmym0f00bvxaFTi-Na4YXajjMeZXHvXTsrYGyLJ9RGti0m87NmjjuQr2uiNmnrpyQdnVVom1QJ-kj3Ssg_49H5eZF_evvm83a33H99dbS_3a1XUNK4VyFrRVtYFr2RbKawoR8YBc5ljWwOrGsYQ9eFQ5BqqptXYKA4adF4wgDy_yF6cuKN3txOGKAYTFPa9tJiCClpyXlBgdZmk7CRV3oXgUYvRm0H6WVAQSxOiE0sTYmlCQClSE8n0_J4_HQZs_1r-nD4JXp0EmFL-NOhFUAatwtZ4VFG0zvyf__ofu-qNNUr2P3DG0LnJ23Q_QUVgAsSn5ReWV6BFSl_zJv8Nnuax3Q</recordid><startdate>20141001</startdate><enddate>20141001</enddate><creator>Haberer, Kim, BA, MA, MD</creator><creator>Buffo-Sequeira, Ilan, MD</creator><creator>Chudley, Albert E., MD, FRCPC, FCCMG</creator><creator>Spriggs, Elizabeth, PhD, FCCMG</creator><creator>Sergi, Consolato, MD, PhD, FRCPC</creator><general>Elsevier Inc</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>7X8</scope><orcidid>https://orcid.org/0000-0002-2779-7879</orcidid></search><sort><creationdate>20141001</creationdate><title>A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction</title><author>Haberer, Kim, BA, MA, MD ; Buffo-Sequeira, Ilan, MD ; Chudley, Albert E., MD, FRCPC, FCCMG ; Spriggs, Elizabeth, PhD, FCCMG ; Sergi, Consolato, MD, PhD, FRCPC</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c481t-c0a8c1da8467ad7ce716e260e3a3ed8027922eefbb43f079dfe9c60f0f3420033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging</topic><topic>Cardiomyopathy, Hypertrophic, Familial - genetics</topic><topic>Cardiomyopathy, Hypertrophic, Familial - pathology</topic><topic>Cardiovascular</topic><topic>Disease Progression</topic><topic>Heart Defects, Congenital - diagnostic imaging</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Heart Defects, Congenital - pathology</topic><topic>Heart Ventricles - diagnostic imaging</topic><topic>Heart Ventricles - pathology</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Mutation</topic><topic>Myocardium - pathology</topic><topic>Phenotype</topic><topic>Shock, Cardiogenic - pathology</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Haberer, Kim, BA, MA, MD</creatorcontrib><creatorcontrib>Buffo-Sequeira, Ilan, MD</creatorcontrib><creatorcontrib>Chudley, Albert E., MD, FRCPC, FCCMG</creatorcontrib><creatorcontrib>Spriggs, Elizabeth, PhD, FCCMG</creatorcontrib><creatorcontrib>Sergi, Consolato, MD, PhD, FRCPC</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Canadian journal of cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haberer, Kim, BA, MA, MD</au><au>Buffo-Sequeira, Ilan, MD</au><au>Chudley, Albert E., MD, FRCPC, FCCMG</au><au>Spriggs, Elizabeth, PhD, FCCMG</au><au>Sergi, Consolato, MD, PhD, FRCPC</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction</atitle><jtitle>Canadian journal of cardiology</jtitle><addtitle>Can J Cardiol</addtitle><date>2014-10-01</date><risdate>2014</risdate><volume>30</volume><issue>10</issue><spage>1249.e1</spage><epage>1249.e3</epage><pages>1249.e1-1249.e3</pages><issn>0828-282X</issn><eissn>1916-7075</eissn><abstract>Abstract A male infant was born to a 38-year-old G1P0 mother with hypertrophic cardiomyopathy (HCM). Fetal echocardiography was suspicious for HCM; however, postnatal echocardiography demonstrated features consistent with left ventricular noncompaction (LVNC). The infant was initially stable but presented at 2 months of age in cardiogenic shock. On genetic analysis, both parents were heterozygous for mutations associated with HCM. The proband was a compound heterozygote. This case, in which 2 mutations for HCM produced a phenotype of LVNC, has not been demonstrated in humans and raises the question of whether HCM and LVNC represent a continuum of pathologic processes.</abstract><cop>England</cop><pub>Elsevier Inc</pub><pmid>25262865</pmid><doi>10.1016/j.cjca.2014.05.021</doi><orcidid>https://orcid.org/0000-0002-2779-7879</orcidid></addata></record> |
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| subjects | Cardiomyopathy, Hypertrophic, Familial - diagnostic imaging Cardiomyopathy, Hypertrophic, Familial - genetics Cardiomyopathy, Hypertrophic, Familial - pathology Cardiovascular Disease Progression Heart Defects, Congenital - diagnostic imaging Heart Defects, Congenital - genetics Heart Defects, Congenital - pathology Heart Ventricles - diagnostic imaging Heart Ventricles - pathology Heterozygote Humans Infant, Newborn Male Mutation Myocardium - pathology Phenotype Shock, Cardiogenic - pathology Ultrasonography, Prenatal |
| title | A Case of an Infant With Compound Heterozygous Mutations for Hypertrophic Cardiomyopathy Producing a Phenotype of Left Ventricular Noncompaction |
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