Hypertrophic cardiomyopathy genetic testing

    • [PDF File]Genetic Testing for Hypertrophic Cardiomyopathy

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      Genetic testing for Hypertrophic Cardiomyopathy IImmage used witage used with permission fh permisiion: rom Dr. Rick Nishimura, Mayo Clinic, Rochester, MN . Page 1 of 2 Hypertrophic cardiomyopathy (HCM) is a complex type of heart disease. This condition can include: •Abnormal thickening of the heart muscle


    • [PDF File]Genetic testing in cardiomyopathy October 2017

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      • Genetic assessments involve looking at someone’s genes for changes (genetic testing), as well as looking at a family tree for a history of cardiomyopathy. • Genetic testing can be important for both individuals with the condition, and their family.


    • [PDF File]Diagnostic, Prognostic, and Therapeutic Implications of ...

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      Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy J. Martijn Bos, MD,* Jeffrey A. Towbin, MD,‡ Michael J. Ackerman, MD, PHD*† Rochester, Minnesota; and Cincinnati, Ohio Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertro-phic ...


    • Genetic testing and cascade screening in pediatric long QT ...

      0.91 detected per family. Genetic testing was less utilized in HCM index patients and relatives. Screening participation was greater in families of gene-positive index patients (88%) (P ,.001) compared to gene-negative patients (53%). Cascade method utili-zation: Cardiology-only 45%, combined genetic and cardiology 39%, and genetic only 16%.


    • [PDF File]Genetic Testing for Predisposition to Inherited ...

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      cardiac death. Genetic testing for HCM-associated variants is available through a number of commercial laboratories. OBJECTIVE . The objective of this policy is to determine whether genetic testing improves the net health outcome in individuals who are asymptomatic but at risk for hypertrophic cardiomyopathy because of a positive family history.


    • [PDF File]Uptake of genetic counselling and predictive DNA testing ...

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      hypertrophic cardiomyopathy families with a sarcomere gene mutation we retrospectively determined uptake of genetic counselling and predictive DNA testing in relatives within 1 year after the detection of the causal mutation in the proband. Uptake of genetic counselling was 39% and did not differ significantly


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