Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Mar;106(2):313-324.
doi: 10.1016/j.mcna.2021.11.007. Epub 2022 Feb 2.

Cardiovascular Genetics: The Role of Genetics in Predicting Risk

Jessica Chowns  1 , Lily Hoffman-Andrews  2 , Amy Marzolf  2 , Nosheen Reza  2 , Anjali Tiku Owens  3
Affiliations
Review

Cardiovascular Genetics: The Role of Genetics in Predicting Risk

Jessica Chowns et al. Med Clin North Am. 2022 Mar.

Abstract

Many cardiovascular disorders have underlying genetic causes. Clinical genetic testing for cardiovascular disease has become widely available and can be useful for diagnosis, management, and cascade screening in selected conditions and circumstances. This article gives an overview of the current state of genetic testing in inherited cardiovascular conditions, who can benefit from it, and the associated challenges.

Keywords: Cardiovascular genetics; Cascade screening; Genetic counseling; Genetic testing; Inherited cardiovascular disease; Precision medicine.

PubMed Disclaimer

Conflict of interest statement

Disclosure Dr A.T. Owens is a consultant for MyoKardia and Cytokinetics and receives funding from the Winkelman Family Fund for Innovation. Dr N. Reza is supported by the National Center for Advancing Translational Sciences of the National Institutes of Health under award number KL2TR001879. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Figures

Fig. 1.
Fig. 1.
Members of a multidisciplinary cardiogenetics team.
Fig. 2.
Fig. 2.
Choosing the appropriate individual for genetic testing. aIf there are multiple affected individuals in the family, testing should ideally start with the individual who is most severely affected and/or had the youngest age of onset.
Fig. 3.
Fig. 3.
Cascade screening. LP, likely pathogenic variant; P, pathogenic variant; VUS, variant of uncertain significance; WES, whole-exome sequencing; WGS, whole-genome sequencing.
Fig. 4.
Fig. 4.
Pedigree. +, Positive for causative pathogenic variant; −, negative for causative pathogenic variant.
See this image and copyright information in PMC

References

    1. Bonter K, Desjardins C, Currier N, et al. Personalised medicine in Canada: a survey of adoption and practice in oncology, cardiology and family medicine. BMJ Open 2011;1(1):e000110. - PMC - PubMed
    1. Mainous AG 3rd, Johnson SP, Chirina S, et al. Academic family physicians’ perception of genetic testing and integration into practice: a CERA study. Fam Med 2013;45(4):257–62. - PubMed
    1. Ahmad F, McNally Elizabeth M, Ackerman MJ, et al. Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association. Circ Genomic Precis Med 2019;12(6):e000054. - PubMed
    1. Ingles J, Semsarian C. Making the case for cascade screening among families with inherited heart disease. Heart Rhythm 2020;17(1):113–4. - PubMed
    1. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel - ClinGen | Clinical Genome Resource. Available at: https://www.clinicalgenome.org/docs/adaptation-and-validation-of-the-acm.... Accessed April 16, 2021. - PMC - PubMed