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Review
. 2018 May;24(5):281-302.
doi: 10.1016/j.cardfail.2018.03.004. Epub 2018 Mar 19.

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

Ray E Hershberger  1 , Michael M Givertz  2 , Carolyn Y Ho  2 , Daniel P Judge  3 , Paul F Kantor  4 , Kim L McBride  5 , Ana Morales  6 , Matthew R G Taylor  7 , Matteo Vatta  8 , Stephanie M Ware  9
Affiliations
Review

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

Ray E Hershberger et al. J Card Fail. 2018 May.

Abstract

This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), the guideline has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine. The genetic evaluation of cardiomyopathy is a rapidly emerging key clinical priority, because high-throughput sequencing is now feasible for clinical testing and conventional interventions can improve survival, reduce morbidity, and enhance quality of life. Moreover, specific interventions may be guided by genetic analysis. A systematic approach is recommended: always a comprehensive family history; an expert phenotypic evaluation of the proband and at-risk family members to confirm a diagnosis and guide genetic test selection and interpretation; referral to expert centers as needed; genetic testing, with pre- and post-test genetic counseling; and specific guidance as indicated for drug and device therapies. The evaluation of infants and children demands special expertise. The approach to managing secondary and incidental sequence findings as recommended by the ACMG is provided.

Keywords: Cardiomyopathy; genetic analysis; genetics; practice guideline; secondary findings.

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References

    1. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail 2009;15:83–97. - PubMed
    1. Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, et al. Enhancing literacy in cardiovascular genetics: a scientific statement from the American Heart Association. Circ Cardiovasc Genet 2016;9:448–67. - PubMed
    1. Furqan A, Arscott P, Girolami F, Cirino AL, Michels M, Day SM, et al. Care in specialized centers and data sharing increase agreement in hypertrophic cardiomyopathy genetic test interpretation. Circ Cardiovasc Genet 2017;10. - PubMed
    1. Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565–74. - PMC - PubMed
    1. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2016;19:249–55. - PubMed