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J Card Fail. 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.

Author information

1
Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio; Division of Cardiovascular Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio. Electronic address: Ray.Hershberger@osumc.edu.
2
Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts.
3
Division of Cardiology, Medical University of South Carolina, Charleston, South Carolina.
4
Division of Pediatric Cardiology, University of Alberta and Stollery Children's Hospital, Edmonton, Canada.
5
Center for Cardiovascular Research, Nationwide Children's Hospital, and Department of Pediatrics, Ohio State University, Columbus Ohio.
6
Division of Human Genetics, Ohio State University Wexner Medical Center, Columbus, Ohio.
7
Adult Medical Genetics Program, Division of Cardiology, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
8
Invitae Corporation, San Francisco, California; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
9
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana.

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

PMID:
29567486
DOI:
10.1016/j.cardfail.2018.03.004
[Indexed for MEDLINE]

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