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Penetrance of Hypertrophic Cardiomyopathy in At-Risk Children and Young Adults

Meyer, Tyler J
http://orcid.org/0000-0002-7983-0351
http://rave.ohiolink.edu/etdc/view?acc_num=ucin152242025476837

Abstract Details

2018, MS, University of Cincinnati, Medicine: Genetic Counseling.
Hypertrophic cardiomyopathy (HCM) is a disease of the myocardium that is defined by unexplained left ventricular hypertrophy. HCM is an autosomal dominant condition with a prevalence of approximately 1 in 500 individuals. Multiple guidelines have outlined cardiac screening and genetic testing recommendations for individuals at increased risk of developing HCM. Current guidelines vary in terms of age of initiation and frequency of cardiac screening in at-risk relatives. The variance in recommendations for age of screening initiation is due in part to the paucity of HCM penetrance data in children and young adults. In order to better define HCM disease risk, we sought to investigate the penetrance of a HCM phenotype in children and young adults. A retrospective medical record review was used to identify individuals at-risk of developing HCM and cardiac screening, genetic testing and clinical data were collected. Individuals were determined to be at-risk to develop HCM if they had a first-degree family member with HCM or if they had a likely pathogenic or pathogenic variant in a gene known to confer HCM risk. Of the 141 at risk individuals identified, 23 (16%) were diagnosed with HCM. The age of diagnosis of at-risk individuals ranged from infancy to 28 years. Among at-risk individuals receiving a diagnosis of HCM, 16 (70%) were diagnosed under the age of 18, 10 (43%) were diagnosed under the age of 12, 8 (35%) were diagnosed under the age of 10 and 3 (13%) were diagnosed at less than one year of age. Delaying cardiac screening of at-risk individuals until age 10 would have resulted in a delayed cardiac diagnosis in 35% of this cohort. The only factor found to be a significant predictor of HCM penetrance in this cohort was the presence of a likely pathogenic or pathogenic variant (p<0.001) with 32% (N=22) of gene positive individuals developing disease compared to 2% (N=1) of those without a likely pathogenic or pathogenic variant in the family. These findings can inform patient and family counseling with reassurance, but not removal, of disease risk for at-risk children and young adults from mutation negative families. In addition, cardiac screening should be initiated in infancy or at the time of risk identification, especially for genotype positive individuals. Additional data is needed to alter screening frequency, but findings here suggest less frequent screening may be appropriate for at-risk individuals from mutation negative families.
Melanie Myers, Ph.D. (Committee Chair)
Angela Lorts, M.D. (Committee Member)
Erin Miller, M.S. L.C.G.C. (Committee Member)
Ashley Parrott, M.S (Committee Member)
Thomas Ryan (Committee Member)
Amy Shikany, MS (Committee Member)
Xue Zhang, Ph.D. (Committee Member)
29 p.
Genetics
Hypertrophic Cardiomyopathy; Penetrance; Pediatrics; Genetic Testing; Autosomal Dominant

Recommended Citations

Citations

  • Meyer, T. J. (2018). Penetrance of Hypertrophic Cardiomyopathy in At-Risk Children and Young Adults [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin152242025476837

    APA Style (7th edition)

  • Meyer, Tyler. Penetrance of Hypertrophic Cardiomyopathy in At-Risk Children and Young Adults. 2018. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin152242025476837.

    MLA Style (8th edition)

  • Meyer, Tyler. "Penetrance of Hypertrophic Cardiomyopathy in At-Risk Children and Young Adults." Master's thesis, University of Cincinnati, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin152242025476837

    Chicago Manual of Style (17th edition)

ucin152242025476837
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This open access ETD is published by University of Cincinnati and OhioLINK.