Hypertrophic cardiomyopathy genetic screening

• [PDF File]GENETIC ANALYSIS OF HYPERTROPHIC CARDIOMYOPATHY …

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  1.1. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy (HCM) is a complex and relatively common genetic cardiac disease characterised primarily by unexplained left ventricular hypertrophy. The disease is more frequent, then it was previously thought as its prevalence was shown to be 1/500-1000.

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• [PDF File]Diagnosis and Management of Hypertrophic Cardiomyopathy …

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  Diagnosis and Management of Hypertrophic Cardiomyopathy – Page CSANZ Position Statement 5 including family history. Clinical surveillance remains lifelong, although the frequency of screening is less frequent in older age groups. Screening of second-degree relatives should be decided in a family-

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• [PDF File]2014 ESC Guidelines on diagnosis and management of …

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  2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) Authors/Task Force members: Perry M. Elliott* (Chairperson) (UK) Aris Anastasakis (Greece),MichaelA.Borger(Germany),MartinBorggrefe(Germany ...

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

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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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• Fabry disease mimicking hypertrophic cardiomyopathy: genetic …

  Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women Ole Havndrup1, Michael Christiansen2, Birgitte Stoevring2, Morten Jensen1, Jakob Hoffman-Bang2, Paal Skytt Andersen2, Lis Hasholt3, Anne Nørremølle3, Ulla Feldt-Rasmussen4, Lars Køber1, and Henning Bundgaard1* 1Department of Cardiology, Heart Centre, The National University …

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• Genetic testing and cascade screening in pediatric long QT …

  tient genetic testing was not performed or was unknown. Cascade screening method utilization A total of 874 cascade screening tests were reported for 553 relatives who underwent screening (588 cardiology tests and 286genetictests).Therewere1.6testsperformedperrelative screened,and4tests performed perrelative identifiedas pos-itive. Cardiology ...

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• [PDF File]Genetic screening and risk assessment in hypertrophic …

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  Genetic Screening and Risk Assessment in Hypertrophic Cardiomyopathy* Calum A. MacRae, MB, CHB, PHD, Patrick T. Ellinor, MD, PHD Boston, Massachusetts Inherited cardiovascular diseases in which sudden death may be the initial clinical presentation pose two basic questions for the cardiologist. First, how should we screen family members for ...

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• Genetic Screening for hypertrophic cardiomyopathy

  Genetic Screening for hypertrophic cardiomyopathy Purins A, Hiller JE Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Purins A, Hiller JE. Genetic Screening for hypertrophic ...

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• [PDF File]Diagnosis and Management of Hyertrophic Cardiomyopathy

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  CSANZ Guidelines for the diagnosis and management of Hypertrophic Cardiomyopathy Page 3 of 5 2. MOLECULAR GENETICS 2.1 HCM disease genes Familial HCM is a genetically heterogeneous disorder, meaning a mutation in more than one

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• [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

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