Parental knowledge and attitudes toward hypertrophic cardiomyopathy genetic testing

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.