Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.

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  • Additional Information
    • Source:
      Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE
    • Publication Information:
      Publication: 2005- : Oxford : Oxford University Press
      Original Publication: London, Saunders [etc.]
    • Subject Terms:
    • Abstract:
      Pathogenic variation in genes encoding proteins of the cardiac sarcomere is responsible for 30%-40% of cases of hypertrophic cardiomyopathy. The main clinical utility of genetic testing is to provide diagnostic confirmation and facilitation of family screening. It also assists in the detection of aetiologies, which require distinct monitoring and treatment approaches. Other clinical applications, including the use of genetic information to inform risk prediction models, have been limited by the challenge of establishing robust genotype-phenotype correlations with actionable consequences, but new data on the interaction between rare and common genetic variation, as well as the emergence of therapies targeting disease-specific pathogenic mechanisms, herald a new era for genetic testing in routine practice.
      (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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    • Grant Information:
      MR/T005181/1 MRC UKRI CARP
    • Contributed Indexing:
      Keywords: Genetic testing; Genetic therapy; Hypertrophic cardiomyopathy; Myosin inhibitors; Precision therapy
    • Publication Date:
      Date Created: 20240710 Date Completed: 20240809 Latest Revision: 20240811
    • Publication Date:
      20240812
    • Accession Number:
      PMC11313585
    • Accession Number:
      10.1093/eurheartj/ehae421
    • Accession Number:
      38984491