Skip to main content
  • American Heart Association
  • Science Volunteer
  • Warning Signs
  • Advanced Search
  • Donate

  • Home
  • About this Journal
    • Editorial Board
    • General Statistics
    • Information for Advertisers
    • Author Reprints
    • Commercial Reprints
    • Customer Service and Ordering Information
  • All Issues
  • Subjects
    • All Subjects
    • Arrhythmia and Electrophysiology
    • Basic, Translational, and Clinical Research
    • Critical Care and Resuscitation
    • Epidemiology, Lifestyle, and Prevention
    • Genetics
    • Heart Failure and Cardiac Disease
    • Hypertension
    • Imaging and Diagnostic Testing
    • Intervention, Surgery, Transplantation
    • Quality and Outcomes
    • Stroke
    • Vascular Disease
  • Browse Features
    • AHA Guidelines and Statements
    • Advances in Genetics
    • Bootcamp Resources
    • Clinical Genomic Cases
    • Methods in Genetics and Clinical Interpretation
    • Podcast Archive
  • Resources
    • Instructions for Authors
      • Accepted Manuscripts
      • Revised Manuscripts
    • → Article Types
    • → General Preparation Instructions
    • → Research Guidelines
    • → How to Submit a Manuscript
    • Journal Policies
    • Permissions and Rights Q&A
    • Submission Sites
    • AHA Journals RSS Feeds
    • International Users
    • AHA Newsroom
  • AHA Journals
    • AHA Journals Home
    • Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB)
    • Circulation
    • → Circ: Arrhythmia and Electrophysiology
    • → Circ: Genomic and Precision Medicine
    • → Circ: Cardiovascular Imaging
    • → Circ: Cardiovascular Interventions
    • → Circ: Cardiovascular Quality & Outcomes
    • → Circ: Heart Failure
    • Circulation Research
    • Hypertension
    • Stroke
    • Journal of the American Heart Association

  • My alerts
  • Sign In
  • Join

  • Advanced search

Header Publisher Menu

  • American Heart Association
  • Science Volunteer
  • Warning Signs
  • Advanced Search
  • Donate

Circulation: Genomic and Precision Medicine

  • My alerts
  • Sign In
  • Join

  • Home
  • About this Journal
    • Editorial Board
    • General Statistics
    • Information for Advertisers
    • Author Reprints
    • Commercial Reprints
    • Customer Service and Ordering Information
  • All Issues
  • Subjects
    • All Subjects
    • Arrhythmia and Electrophysiology
    • Basic, Translational, and Clinical Research
    • Critical Care and Resuscitation
    • Epidemiology, Lifestyle, and Prevention
    • Genetics
    • Heart Failure and Cardiac Disease
    • Hypertension
    • Imaging and Diagnostic Testing
    • Intervention, Surgery, Transplantation
    • Quality and Outcomes
    • Stroke
    • Vascular Disease
  • Browse Features
    • AHA Guidelines and Statements
    • Advances in Genetics
    • Bootcamp Resources
    • Clinical Genomic Cases
    • Methods in Genetics and Clinical Interpretation
    • Podcast Archive
  • Resources
    • Instructions for Authors
    • → Article Types
    • → General Preparation Instructions
    • → Research Guidelines
    • → How to Submit a Manuscript
    • Journal Policies
    • Permissions and Rights Q&A
    • Submission Sites
    • AHA Journals RSS Feeds
    • International Users
    • AHA Newsroom
  • AHA Journals
    • AHA Journals Home
    • Arteriosclerosis, Thrombosis, and Vascular Biology (ATVB)
    • Circulation
    • → Circ: Arrhythmia and Electrophysiology
    • → Circ: Genomic and Precision Medicine
    • → Circ: Cardiovascular Imaging
    • → Circ: Cardiovascular Interventions
    • → Circ: Cardiovascular Quality & Outcomes
    • → Circ: Heart Failure
    • Circulation Research
    • Hypertension
    • Stroke
    • Journal of the American Heart Association
Editorial

Family Matters

Outcomes of Hypertrophic Cardiomyopathy Family Screening

Jodie Ingles, Christopher Semsarian
Download PDF
https://doi.org/10.1161/CIRCGEN.118.002112
Circ Genom Precis Med. 2018;11:e002112
Originally published April 16, 2018
Jodie Ingles
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Medical School, University of Sydney, Department of Cardiology, Royal Prince Alfred Hospital, Australia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Christopher Semsarian
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney Medical School, University of Sydney, Department of Cardiology, Royal Prince Alfred Hospital, Australia.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Tables
  • Info & Metrics

Jump to

  • Article
    • Clinical Screening for HCM
    • Genetic Screening for HCM
    • Risk to Unaffected HCM Gene Carriers
    • Factors Contributing to Variable Presentation in Relatives
    • Acknowledgments
    • Disclosures
    • Footnotes
    • References
  • Figures & Tables
  • Info & Metrics
  • eLetters
Loading

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.


  • Editorials
  • genetic testing
  • heart failure
  • long QT syndrome
  • penetrance
  • risk factors

See Article by van Velzen et al

Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous disease affecting up to 1 in 200 of the general population.1 Primarily an autosomal dominantly inherited trait, first-degree relatives have a 50% risk of inheriting the underlying gene variant, though there are many examples of incomplete penetrance and variable expression. The factors that influence disease onset and severity are largely unknown, but it is a well-recognized phenomenon in HCM. Within one family there may be relatives who never develop disease, others who will present with only mild features, and tragically some will suffer the most serious outcomes of heart failure or sudden cardiac death. There is little to guide the discussion with families before a decision to undergo cascade genetic testing, and evidence relating to penetrance and outcomes of relatives remains sparse.

In this issue, van Velzen et al2 present their long-term experience of cascade family screening in HCM. Over a 31-year period, a total of 777 relatives from 209 families were seen for family screening in the Erasmus Medical Center. Because of the widespread availability of genetic testing in the Netherlands, there is a unique ability to understand the long-term outcomes to the family. There were 620 relatives (80%) who underwent cascade genetic testing, with 264 (43%) shown to be genotype positive, whereas 356 (57%) were genotype negative and released from ongoing clinical surveillance. A third of the asymptomatic adult relatives were diagnosed with HCM at their first clinical evaluation, and annual cardiac mortality was calculated to be 0.3% per year. For the remainder of relatives, 16% developed disease during the mean 7-year follow-up period. Risk of cardiac events in unaffected gene carriers was very low with annual cardiac mortality of 0.1% per year, …

View Full Text

American Heart Association Professional?

Log in with your Professional Heart Daily username and password. Not an American Heart Association Professional? Continue below.

Log in using your username and password

Enter your Circulation: Genomic and Precision Medicine username.
Enter the password that accompanies your username.
Forgot your user name or password?

Pay Per Article - You may access this article (from the computer you are currently using) for 1 day for US$35.00

Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

Back to top
Previous ArticleNext Article

This Issue

Circ Genom Precis Med
April 2018, Volume 11, Issue 4
  • Table of Contents
Previous ArticleNext Article

Jump to

  • Article
    • Clinical Screening for HCM
    • Genetic Screening for HCM
    • Risk to Unaffected HCM Gene Carriers
    • Factors Contributing to Variable Presentation in Relatives
    • Acknowledgments
    • Disclosures
    • Footnotes
    • References
  • Figures & Tables
  • Info & Metrics

Article Tools

  • Print
  • Citation Tools
    Family Matters
    Jodie Ingles and Christopher Semsarian
    Circ Genom Precis Med. 2018;11:e002112, originally published April 16, 2018
    https://doi.org/10.1161/CIRCGEN.118.002112

    Citation Manager Formats

    • BibTeX
    • Bookends
    • EasyBib
    • EndNote (tagged)
    • EndNote 8 (xml)
    • Medlars
    • Mendeley
    • Papers
    • RefWorks Tagged
    • Ref Manager
    • RIS
    • Zotero
  • Article Alerts
    Log in to Email Alerts with your email address.
  • Save to my folders

Share this Article

  • Email

    Thank you for your interest in spreading the word on Circulation: Genomic and Precision Medicine.

    NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

    Enter multiple addresses on separate lines or separate them with commas.
    Family Matters
    (Your Name) has sent you a message from Circulation: Genomic and Precision Medicine
    (Your Name) thought you would like to see the Circulation: Genomic and Precision Medicine web site.
  • Share on Social Media
    Family Matters
    Jodie Ingles and Christopher Semsarian
    Circ Genom Precis Med. 2018;11:e002112, originally published April 16, 2018
    https://doi.org/10.1161/CIRCGEN.118.002112
    del.icio.us logo Digg logo Reddit logo Twitter logo CiteULike logo Facebook logo Google logo Mendeley logo

Related Articles

Cited By...

Subjects

  • Genetics
    • Genetics
  • Heart Failure and Cardiac Disease
    • Hypertrophy
    • Cardiomyopathy

Circulation: Genomic and Precision Medicine

  • About Circ Genomic and Precision Medicine
  • Instructions for Authors
  • Guidelines and Statements
  • Permissions
  • Journal Policies
  • Email Alerts
  • Open Access Information
  • AHA Journals RSS
  • AHA Newsroom
Editorial Office Address:
200 Fifth Avenue, Suite 1020
Waltham, MA 02451 
E-mail: circ@circulationjournal.org
Information for:
  • Advertisers
  • Subscribers
  • Subscriber Help
  • Institutions / Librarians
  • Institutional Subscriptions FAQ
  • International Users
American Heart Association Learn and Live
National Center
7272 Greenville Ave.
Dallas, TX 75231

Customer Service

  • 1-800-AHA-USA-1
  • 1-800-242-8721
  • Local Info
  • Contact Us

About Us

Our mission is to build healthier lives, free of cardiovascular diseases and stroke. That single purpose drives all we do. The need for our work is beyond question. Find Out More about the American Heart Association

  • Careers
  • SHOP
  • Latest Heart and Stroke News
  • AHA/ASA Media Newsroom

Our Sites

  • American Heart Association
  • American Stroke Association
  • For Professionals
  • More Sites

Take Action

  • Advocate
  • Donate
  • Planned Giving
  • Volunteer
  • You're the Cure

Online Communities

  • AFib Support
  • Empowered to Serve
  • Garden Community
  • Patient Support Network
  • Professional Online Network

Follow Us:

  • Follow Circulation on Twitter
  • Visit Circulation on Facebook
  • Follow Circulation on Google Plus
  • Follow Circulation on Instagram
  • Follow Circulation on Pinterest
  • Follow Circulation on YouTube
  • Rss Feeds
  • Privacy Policy
  • Copyright
  • Ethics Policy
  • Conflict of Interest Policy
  • Linking Policy
  • Diversity
  • Careers

©2018 American Heart Association, Inc. All rights reserved. Unauthorized use prohibited. The American Heart Association is a qualified 501(c)(3) tax-exempt organization.
*Red Dress™ DHHS, Go Red™ AHA; National Wear Red Day ® is a registered trademark.

  • PUTTING PATIENTS FIRST National Health Council Standards of Excellence Certification Program
  • BBB Accredited Charity
  • Comodo Secured