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Genetic Testing in Hypertrophic Cardiomyopathy

Ireland, Catherine G., Ho, Carolyn Y.·2024·The American Journal of Cardiology
DOI 10.1016/j.amjcard.2023.10.032
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CC-BY-NC-ND · From the PDF
Figure 2 Example of a 3-generation pedigree. A simple 3-generation family pedigree tracking disease expression in each family member. The pattern indicates autosomal dominant inheritance.
Figure 2 Example of a 3-generation pedigree. A simple 3-generation family pedigree tracking disease expression in each family member. The pattern indicates autosomal dominant inheritance.CC-BY-NC-ND · From the PDF
Figure 3 Segregation testing of a VUS in a family with known HCM. This is done to attempt to determine causality, although management decisions should not be made on the basis of segregation analysis in the absence of a change in variant classification. ( A ) Cosegregation.
Figure 3 Segregation testing of a VUS in a family with known HCM. This is done to attempt to determine causality, although management decisions should not be made on the basis of segregation analysis in the absence of a change in variant classification. ( A ) Cosegregation.CC-BY-NC-ND · From the PDF
Figure 4 Flowchart showing next steps in cascade testing using the results of genetic testing of the proband. In patients with negative genetic test results, first-degree relatives should not undergo genetic testing and should follow with a cardiologist for longitudinal clinical screening. Families of probands with a VUS can be offered genetic testing as part of a segregation analysis, but first-degree relatives will require clinical screening regardless. Finally, first-degree family members of patients with P/LP mutations can be offered variant-specific genetic testing. Family members with positive test results should have ongoing clinical follow-up. Family members with negative test results may be released from ongoing follow-up but should be counseled on red flags for the development of cardiac disease that would prompt return to care. For all results, providers must monitor for variant reclassification, and in these instances, recommendations should transition on the basis of new classification. 4,12 ACC/AHA = American College of Cardiology/American Heart Association; LP = likely pathogenic; P = pathogenic.
Figure 4 Flowchart showing next steps in cascade testing using the results of genetic testing of the proband. In patients with negative genetic test results, first-degree relatives should not undergo genetic testing and should follow with a cardiologist for longitudinal clinical screening. Families of probands with a VUS can be offered genetic testing as part of a segregation analysis, but first-degree relatives will require clinical screening regardless. Finally, first-degree family members of patients with P/LP mutations can be offered variant-specific genetic testing. Family members with positive test results should have ongoing clinical follow-up. Family members with negative test results may be released from ongoing follow-up but should be counseled on red flags for the development of cardiac disease that would prompt return to care. For all results, providers must monitor for variant reclassification, and in these instances, recommendations should transition on the basis of new classification. 4,12 ACC/AHA = American College of Cardiology/American Heart Association; LP = likely pathogenic; P = pathogenic.CC-BY-NC-ND · From the PDF

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Research works printed but not linked: 33

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Metadata

Authors
Ireland, C. G., & Ho, C. Y.
Venue
The American Journal of Cardiology
Publisher
Elsevier BV
Published
2024-02
Volume
212
Pages
S4-S13
ISSN
0002-9149
DOI
10.1016/j.amjcard.2023.10.032
Cited by
40
References
2
Language
en
Licence
Funders
Bristol-Myers Squibb

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CoChat. (2026). Citation check: Genetic Testing in Hypertrophic Cardiomyopathy. https://app.cochat.ai/papers/10.1016/j.amjcard.2023.10.032
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Ireland, C. G., & Ho, C. Y. (2024). Genetic Testing in Hypertrophic Cardiomyopathy. The American Journal of Cardiology. https://doi.org/10.1016/j.amjcard.2023.10.032