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  • Cardiac Genetic Testing Results Interpretation Tool
    Summary: This resource helps clinicians interpret cardiac genetic testing results for inherited cardiovascular conditions It provides clear guidance on test outcomes, clinical implications, and next steps for patient management and family risk assessment
  • Genetic Testing for Inherited Cardiovascular Diseases: A Scientific . . .
    This scientific statement summarizes current best practices for genetic testing in cardiovascular medicine, recognizing that genetic testing methods are evolving and that practices may change
  • Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases:
    In this 14-year retrospective study, we assessed the yield and impact of genetic testing in heritable cardiac conditions We explored the presence of recurrent, possibly founder variants and compared case-control associations by using a local population with the use of a broader European population
  • The American Heart Association PREVENT™ Online Calculator
    Do not use the PREVENT equations for adults with known CVD, evidence of severe subclinical CVD (e g , left ventricular ejection fraction <40%, coronary artery calcium ≥300), positive genetic testing for a variant known to be pathogenic or for an inherited cardiovascular condition, end-stage kidney disease, or limited life expectancy (<1 year)
  • Clinical Effect of Genetic Testing in Inherited Cardiovascular Diseases . . .
    In this 14-year retrospective study, we assessed the yield and impact of genetic testing in heritable cardiac conditions We explored the presence of recurrent, possibly founder variants and compared case-control associations by using a local population with the use of a broader European population
  • JCS JCC JSPCCS 2024 Guideline on Genetic Testing and Counseling in . . .
    If genetic testing is performed on a patient with an inherited CVD and a pathological variant is detected in the causative gene, genetic testing of relatives may be beneficial to their health care
  • A Practical Guide to Genetic Testing in Inherited Heart Disease
    This review not only discusses the utility of genetic testing for patients and families with inherited cardiomyopathies and arrhythmias but also provides direction to the correct approach and logistics of incorporating genetic testing in the clinic setting
  • Interpretation and actionability of genetic variants in . . .
    In this statement, we show how a structured and systematic approach to history taking and clinical phenotyping is central to the interpretation of genetic test results In fact, genetic diagnosis is a fundamental component of precision medicine
  • Genetic Testing for Inherited Cardiovascular Disease: Implications of . . .
    If a patient tests positive for a pathogenic or likely pathogenic variant, there are implications for first-degree family members as most inherited cardiovascular diseases are inherited in an autosomal dominant manner, meaning first degree relatives have a 50% chance of carrying the same variant
  • Distinguishing Variant Pathogenicity From Genetic Diagnosis
    Sequencing is not currently indicated for healthy individuals for genetic risk screening, 2 but it is used for opportunistic screening through evaluation of secondary (ie, incidental) findings 3 Clinicians must understand how to interpret findings from sequencing in the context of multiple sources of information in order to make the best





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