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Genetic Diagnoses and Extracardiac Comorbidities in Adults with Congenital Heart Disease: A Retrospective Chart Review

Edwards, Moriah
http://orcid.org/0000-0003-4843-5524
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1653384781571457

Abstract Details

2022, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Genetic evaluation is indicated for individuals with congenital heart disease (CHD) for the purpose of medical management and assessment of reproductive risk, especially individuals with extracardiac comorbidities. Approximately 11% of the pediatric CHD population has a genetic diagnosis and 20-30% have noncardiac congenital malformations, while little is known regarding how many adults with CHD have a clinical genetic diagnosis or extracardiac comorbidities indicating need for genetic evaluation. The aims of this study were to determine the prevalence of genetic diagnosis, testing, and referral patterns, compare prevalence of genetic diagnoses in adult vs. pediatric CHD populations, and identify patient characteristics associated with genetic diagnosis, testing, and referral. Methods: We performed a retrospective chart review on a sample of adults with congenital heart disease seen at a single institution from 2010-2021. Patients with any of the following diagnoses in isolation were excluded: bicuspid aortic valve and/or thoracic aortic aneurysm, isolated aortic dilation, cardiomyopathies, or arrhythmias. Data was stored in a REDcap database and included cardiac lesion, congenital and neurodevelopmental comorbidities, and genetic clinical evaluation and testing. Associations of selected traits against genetic diagnoses, testing, and referrals were tested using Fisher’s exact test. Results: In 233 patients, the mean age was 37.5 years. Fourteen percent had genetic diagnoses, 13.7% had genetic testing, and 11.6% had genetic referrals. Of 36 patients with a genetic diagnosis, the most common diagnoses were Down syndrome (47%) and 22q11.2 microdeletion syndrome (19%). Patients were more likely to have genetic diagnosis (p<0.001), referral (p<0.001), or testing (p<0.001) if at least one congenital and/or neurodevelopmental comorbidity was present. Thirty-four percent had at least one congenital and/or neurodevelopmental comorbidity. Of 170 patients who had no genetic testing, no genetic referrals, and no genetic diagnosis, 35 had at least one congenital and/or neurodevelopmental comorbidity. Family history of CHD was not associated with genetic-related care (p>0.05). Patients under 40 years of age were more likely to have genetic testing (p=0.043) and genetic diagnoses (p=0.003). Conclusions: Adults with CHD have genetic diagnoses at a rate similar to children with CHD, and should thus be offered the same genetic-related care currently recommended for pediatric patients with CHD, including genetic testing and referral. Adult patients with CHD who have any congenital and/or neurodevelopmental comorbidity or family history of CHD should be referred to clinical genetics. As our understanding of genetic etiologies for CHD continues to expand, even adults with a history of limited genetic testing for CHD are advised to obtain updated genetic evaluation. A subset of our cohort with congenital and/or neurodevelopmental comorbidities received no genetic-related care, including genetic testing or referral for clinical genetic evaluation, representing a population of adults with CHD who may have unrecognized genetic diagnoses.
Nicole Weaver, M.D. (Committee Member)
Nicole Brown, M.D. (Committee Member)
Xue Zhang, Ph.D. (Committee Member)
Amy Shikany, MS (Committee Member)
Alexander Opotowsky, M.P.H. M.D. M.M.Sc. (Committee Member)
56 p.
Genetics
adult congenital heart disease; extracardiac comorbidities; genetic diagnoses; neurodevelopmental; congenital heart defect

Recommended Citations

Citations

  • Edwards, M. (2022). Genetic Diagnoses and Extracardiac Comorbidities in Adults with Congenital Heart Disease: A Retrospective Chart Review [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1653384781571457

    APA Style (7th edition)

  • Edwards, Moriah. Genetic Diagnoses and Extracardiac Comorbidities in Adults with Congenital Heart Disease: A Retrospective Chart Review. 2022. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1653384781571457.

    MLA Style (8th edition)

  • Edwards, Moriah. "Genetic Diagnoses and Extracardiac Comorbidities in Adults with Congenital Heart Disease: A Retrospective Chart Review." Master's thesis, University of Cincinnati, 2022. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1653384781571457

    Chicago Manual of Style (17th edition)

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