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dc.contributor.authorKoitka, Karen
dc.contributor.authorDahiya, Arun
dc.contributor.authorLo, Ada
dc.contributor.authorScalia, Gregory M
dc.contributor.authorAtherton, John J
dc.contributor.authorPrasad, Sandhir B
dc.date.accessioned2019-09-23T03:46:36Z
dc.date.available2019-09-23T03:46:36Z
dc.date.issued2017
dc.identifier.issn2468-6441
dc.identifier.doi10.1016/j.case.2016.11.001
dc.identifier.urihttp://hdl.handle.net/10072/387644
dc.description.abstractThe investigators present a rare case of myofibrillar cardiomyopathy in an 18-year-old male patient in which echocardiography, cardiac magnetic resonance, and genetic testing played complementary roles. At the top, the parasternal long- and short-axis views of the heart document increased wall thickness and normal systolic function. Significant diastolic dysfunction was present. Cardiac magnetic resonance imaging (bottom) showed delayed enhancement in thickened segments and was not suggestive of cardiac amyloid or hypertrophic cardiomyopathy. Quadriceps muscle biopsy showed histopathology compatible with myofibrillar myopathy. Subsequent genetic testing confirmed a novel desmin gene mutation as the cause.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.publisher.placeNetherlands
dc.relation.ispartofpagefrom28
dc.relation.ispartofpageto33
dc.relation.ispartofissue1
dc.relation.ispartofjournalCASE (Phila)
dc.relation.ispartofvolume1
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchcode3105
dc.subject.keywordsDesminopathy
dc.subject.keywordsMyofibrillar cardiomyopathy
dc.subject.keywordsDesminopathy
dc.subject.keywordsMyofibrillar cardiomyopathy
dc.titleMyofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationKoitka, K; Dahiya, A; Lo, A; Scalia, GM; Atherton, JJ; Prasad, SB, Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis., CASE (Phila), 2017, 1 (1), pp. 28-33
dcterms.licensehttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.date.updated2019-09-23T01:52:24Z
dc.description.versionVersion of Record (VoR)
gro.rights.copyright© 2017 by the American Society of Echocardiography. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.
gro.hasfulltextFull Text
gro.griffith.authorDahiya, Arun


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