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dc.contributor.authorKane, David A.
dc.contributor.authorTriedman, John
dc.date2022-08-11T08:08:33.000
dc.date.accessioned2022-08-23T15:58:49Z
dc.date.available2022-08-23T15:58:49Z
dc.date.issued2014-03-01
dc.date.submitted2015-11-03
dc.identifier.citationCardiovasc Pathol. 2014 Mar-Apr;23(2):107-9. doi: 10.1016/j.carpath.2013.11.003. <a href="http://dx.doi.org/10.1016/j.carpath.2013.11.003">Link to article on publisher's site</a>.
dc.identifier.issn1054-8807 (Linking)
dc.identifier.doi10.1016/j.carpath.2013.11.003
dc.identifier.pmid24322056
dc.identifier.urihttp://hdl.handle.net/20.500.14038/30520
dc.description.abstractPediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Post-mortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=24322056&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttp://dx.doi.org/10.1016/j.carpath.2013.11.003
dc.subjectAdolescent
dc.subjectAutopsy
dc.subjectCardiomyopathy, Hypertrophic, Familial
dc.subjectCardiovascular Agents
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectDeath, Sudden, Cardiac
dc.subjectEther-A-Go-Go Potassium Channels
dc.subjectFatal Outcome
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subject*Genetic Testing
dc.subjectHumans
dc.subjectLong QT Syndrome
dc.subjectMale
dc.subject*Mutation, Missense
dc.subjectPedigree
dc.subjectPredictive Value of Tests
dc.subjectTroponin T
dc.subjectFamilial cardiomyopathy screening
dc.subjectHypertrophic cardiomyopathy
dc.subjectLong QT syndrome
dc.subjectPost-mortem genetic testing
dc.subjectSudden cardiac arrest
dc.subjectCardiology
dc.subjectCardiovascular Diseases
dc.subjectCongenital, Hereditary, and Neonatal Diseases and Abnormalities
dc.subjectPathology
dc.subjectPediatrics
dc.titlePost-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy
dc.typeJournal Article
dc.source.journaltitleCardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
dc.source.volume23
dc.source.issue2
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/faculty_pubs/798
dc.identifier.contextkey7796521
html.description.abstract<p>Pediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Post-mortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness.</p>
dc.identifier.submissionpathfaculty_pubs/798
dc.contributor.departmentDepartment of Pediatrics, Division of Cardiology
dc.source.pages107-9


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