Pediatric Cardiology

, Volume 37, Issue 5, pp 845–851 | Cite as

Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy

  • Nathan D. Bales
  • Nicole M. Johnson
  • Daniel P. Judge
  • Anne M. MurphyEmail author
Original Article


Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomere that can be found in both children and adults and is associated with many causative mutations. In children who are not the index case of HCM in their families, current recommendations call only for targeted genetic testing for familial mutations. However, clinical experience suggests that de novo mutations are possible, as are mutations inherited from apparently an unaffected parent. A chart review was conducted of all patients who received HCM genetic testing at Johns Hopkins from 2004 to 2013. In total, 239 patient charts were analyzed for personal and familial genetic findings. Eighty-one patients with sarcomere gene mutations were identified, of which 66 had a clinical diagnosis of HCM. Importantly, eight patients had >1 pathogenic or likely pathogenic mutation, including six patients who were diagnosed with HCM as children (18 or younger). In this analysis, when a sarcomere mutation is identified in a family, the likelihood of a child with HCM having >1 mutation is 25 % (6/24), compared to 4.8 % (2/42) for adults. The large number of children with multiple mutations suggests that broad panel rather than targeted genetic testing should be considered in HCM presenting during childhood even if the child is not the index case.


Hypertrophic cardiomyopathy Genetic counseling Genetic testing 



Mr. Bales was funded by the Johns Hopkins School of Medicine Deans Research fund for medical student.

Compliance with Ethical Standards

Conflict of interest

Nicole M. Johnson began employment at Invitae Corporation, a diagnostic genetic testing laboratory, in January of 2014. The data collection and analysis preceded that date.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was found to be exempt from need for formal consent.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Nathan D. Bales
    • 1
  • Nicole M. Johnson
    • 2
    • 3
  • Daniel P. Judge
    • 3
  • Anne M. Murphy
    • 1
    Email author
  1. 1.Johns Hopkins Children’s Center M2319Johns Hopkins University School of MedicineBaltimoreUSA
  2. 2.Invitae CorporationSan FranciscoUSA
  3. 3.Division of Cardiology, Department of MedicineJohns Hopkins University School of MedicineBaltimoreUSA

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