Genetic testing for hypertrophic cardiomyopathy

    • [PDF File]Genetic Testing for Idiopathic Dilated Cardiomyopathy

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      Genetic Testing for Idiopathic Dilated Cardiomyopathy PLN (phospholamban) (eg, dilated cardiomyopathy, hypertrophic cardiomyopathy), full gene sequence 81405 – ANKRD1 (ankyrin repeat domain 1) (eg, dilated cardiomyopathy), full gene sequence TPM1 (tropomyosin 1 [alpha]) (eg, familial hypertrophic cardiomyopathy), full gene sequence

    • [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

    • [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

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

      Genetic testing and cascade screening in pediatric ... HCM 5 hypertrophic cardiomyopathy; LQTS 5 long QT syndrome. 2 Heart Rhythm, Vol -,No-, - 2019 FLA 5.6.0 DTD HRTHM8061_proof 20 September 2019 5:48 pm ce. of genetic testing than LQTS patients (65% vs 92%; P,.001). Of the 65 index patients in …

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

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      Genetic testing for inherited cardiomyopathy (e.g., hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy) with a genomic sequence analysis panel is unlikely to impact therapeutic decision-making in the clinical management of the patient and is considered

    • [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 ...

    • [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]Genetic testing for hereditary cardiomyopathy

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      The term “hypertrophic cardiomyopathy” is reserved for cardiomyopathy that is unaccounted for by known disease or disorder and is related to a genetic mutation that affects the sarcomere (the fundamental contractile unit of cardiac muscle).

    • [PDF File]Genetic Testing for Hereditary Cardiomyopathies and ...

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      • individual has a clinical diagnosis of hypertrophic cardiomyopathy (HCM), catecholaminergic polymorphic ventricular tachycardia (CPVT), dilated cardiomyopathy (DCM), Brugada syndrome, ... Genetic testing has been proposed as method to differentiate inherited or familial cardiomyopathies and

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