Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing
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Updated: Jun 18, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Sara M Fitzgerald-Butt1, Lindsey Byrne, Cynthia A Gerhardt
1Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA. sara.fitzgerald-butt@nationwidechildrens.org
Insights
Parental interest in genetic testing for hypertrophic cardiomyopathy (HCM) is influenced by knowledge and views. Understanding these factors can improve clinical care for children with HCM.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent autosomal dominant disorder associated with sudden cardiac death risk.
- Clinical genetic testing for HCM is underutilized despite its diagnostic and predictive value.
Purpose of the Study:
- To assess parental interest in genetic testing for hypertrophic cardiomyopathy (HCM) in children.
- To identify determinants influencing caregivers' decisions regarding genetic testing for HCM.
Main Methods:
- A questionnaire was developed and administered to 30 adult caregivers of pediatric HCM patients.
- Logistic regression analysis was used to identify predictors of interest in genetic testing.
Main Results:
- While 80% of participants knew about genetic testing generally, only 30% were aware of HCM-specific genetic testing.
- 62% expressed interest in future genetic testing for their child, with 28% considering it within a year.
- Younger age, higher education, knowledge of carrier testing, positive views on genetics, and awareness of HCM heritability predicted interest.
Conclusions:
- Caregiver knowledge and perceptions significantly impact the consideration of genetic testing for pediatric HCM.
- Healthcare providers can use this framework to enhance understanding and encourage appropriate genetic testing, improving clinical management for pediatric HCM patients.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant condition with an increased risk of sudden cardiac death. Although clinical genetic testing can be used for confirmation of a clinical diagnosis as well as a predictive test, based on our clinical experience it is underutilized. Therefore, we developed and administered a questionnaire to assess potential determinants of parental interest in this testing. Of the 30 adult caregivers who participated, 80% had heard of genetic testing, whereas only 30% knew about genetic testing specifically for HCM. Once informed of the availability, 62% said they would consider testing in the future and 28% would consider it in the next year. Participants' younger age, higher education level, knowledge of carrier testing, and positive view of genetic testing were significantly associated with the participant considering HCM genetic testing for their child (p
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