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    Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy

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    Authors
    Kane, David A.
    Triedman, John
    UMass Chan Affiliations
    Department of Pediatrics, Division of Cardiology
    Document Type
    Journal Article
    Publication Date
    2014-03-01
    Keywords
    Adolescent
    Autopsy
    Cardiomyopathy, Hypertrophic, Familial
    Cardiovascular Agents
    Child
    Child, Preschool
    Death, Sudden, Cardiac
    Ether-A-Go-Go Potassium Channels
    Fatal Outcome
    Female
    Genetic Predisposition to Disease
    *Genetic Testing
    Humans
    Long QT Syndrome
    Male
    *Mutation, Missense
    Pedigree
    Predictive Value of Tests
    Troponin T
    Familial cardiomyopathy screening
    Hypertrophic cardiomyopathy
    Long QT syndrome
    Post-mortem genetic testing
    Sudden cardiac arrest
    Cardiology
    Cardiovascular Diseases
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Pathology
    Pediatrics
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    Link to Full Text
    http://dx.doi.org/10.1016/j.carpath.2013.11.003
    Abstract
    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.
    Source
    Cardiovasc Pathol. 2014 Mar-Apr;23(2):107-9. doi: 10.1016/j.carpath.2013.11.003. Link to article on publisher's site.
    DOI
    10.1016/j.carpath.2013.11.003
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/30520
    PubMed ID
    24322056
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.carpath.2013.11.003
    Scopus Count
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    UMass Chan Faculty and Researcher Publications

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