Home / HFSA News / HFSA Publishes Update to Guidelines for Genetic Evaluation of Cardiomyopathy


The Heart Failure Society of America, in collaboration with the American College of Medical Genetics and Genomics (ACMG) today released an updated guideline describing the approach to and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009, this update reflects increased clinical activity devoted to cardiovascular genetic medicine.  The HFSA is pleased to partner with ACMG for this important update. Genetics in Medicine (GIM) will also publish a shorter, modified version of the document.

Dr. Ray Hershberger at the Ohio State University served as chair of the writing group. Dr Hershberger commented “Since 2009, we have seen a sea change in practice. The 2018 genetic evaluation of cardiomyopathy guidelines significantly expands the prior statement, because unlike 2009, clinical genetic testing is now commonly available, affordable and covered by insurers.”

“Perhaps most strikingly since 2009, the ACMG has published a list of most relevant and actionable genes, and about one quarter of them are cardiomyopathy genes. So cardiomyopathy genetics have hit prime time.”

Dr. Hershberger continued, “Like most developments in genetics and cardiovascular medicine, new opportunities to improve care bring new complexities. These need to be explained. I’m so pleased that the writing group—truly  diverse and expert—coalesced  insights from cardiovascular genetics, genetic counseling, and cardiology for a timely update covering phenotyping, genetic testing, counseling and family management. We also have substantially expanded the comments for pediatric cardiomyopathy, a very important contribution.”

“The editors of the Journal of Cardiac Failure, the flagship publication of the HFSA and the oldest journal dedicated to heart failure, were delighted to work with Dr. Hershberger and colleagues on this very important initiative,” Dr. Hauptman, Editor in Chief of the JCF, comments. “The field is rapidly evolving and the guidelines provide excellent detail and context that will be useful to and practical for clinicians and researchers, ultimately for the betterment of care of patients who may have a family history of cardiomyopathy.

“We expect the guidelines to have enormous impact on researchers, clinicians and patients. Having the imprimatur of the HFSA and ACMG highlights the importance of the document and the role it will play in clinical care.”

The Genetic Evaluation of Cardiomyopathy – A Heart Failure Society of America Practice Guideline is available online in the Journal of Cardiac Failure (www.onlinejcf.com) and will be in the May print issue of the JCF.

Please direct any questions to Dr. Hershberger at 614-688-1388 or Ray.Hershberger@osumc.edu. For official citations and doi information, please see below:

Hershberger RE, Givertz M, Ho CY, Judge DP, Kantor P, McBride KL et al. Genetic Evaluation of Cardiomyopathy – a Heart Failure Society of America Practice Guideline. J Card Fail. 2018; 24(5):281-302.

DOI: https://doi.org/10.1016/j.cardfail.2018.03.004


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