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dc.contributor.authorIngles, Jodie
dc.contributor.authorYeates, Laura
dc.contributor.authorO'Brien, Lisa
dc.contributor.authorMcGaughran, Julie
dc.contributor.authorScuffham, Paul A
dc.contributor.authorAtherton, John
dc.contributor.authorSemsarian, Christopher
dc.date.accessioned2017-05-03T14:20:52Z
dc.date.available2017-05-03T14:20:52Z
dc.date.issued2012
dc.date.modified2013-06-25T00:36:49Z
dc.identifier.issn1098-3600
dc.identifier.doi10.1038/gim.2012.47
dc.identifier.urihttp://hdl.handle.net/10072/51872
dc.description.abstractPurpose: A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases. Methods: Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1-3, 6, and 12 months after the result was given. Results: A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands and 21 asymptomatic relatives. Physical and mental component scores analyzed at baseline and 1-3 months were found to be unchanged in all groups. Furthermore, no significant differences were observed up to 12 months after result. Conclusion: In this longitudinal pilot study, no change in health-related quality of life was observed up to 12 months after the result was given in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease.
dc.description.peerreviewedYes
dc.description.publicationstatusYes
dc.languageEnglish
dc.language.isoeng
dc.publisherNature Publishing Group
dc.publisher.placeUnited States
dc.relation.ispartofstudentpublicationN
dc.relation.ispartofpagefrom749
dc.relation.ispartofpageto752
dc.relation.ispartofissue8
dc.relation.ispartofjournalGenetics in Medicine
dc.relation.ispartofvolume14
dc.rights.retentionY
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode3202
dc.titleGenetic testing for inherited heart diseases: longitudinal impact on health-related quality of life
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.date.issued2012
gro.hasfulltextNo Full Text
gro.griffith.authorScuffham, Paul A.


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