Podcast
Questions and Answers
Which genetic testing allows the assessment of genotype–phenotype correlations in hypertrophic cardiomyopathy?
Which genetic testing allows the assessment of genotype–phenotype correlations in hypertrophic cardiomyopathy?
- TPM1 and MYH7
- MYH7 and MYBPC3 (correct)
- TNNT2, TNNI3, and TPM1
- MYBPC3 and TNNT2
What is the estimated prevalence of hypertrophic cardiomyopathy in the general population?
What is the estimated prevalence of hypertrophic cardiomyopathy in the general population?
- 1 in 1000
- 1 in 100
- 1 in 2000
- 1 in 500 (correct)
What percentage of patients with hypertrophic cardiomyopathy have a family history showing autosomal dominant inheritance?
What percentage of patients with hypertrophic cardiomyopathy have a family history showing autosomal dominant inheritance?
- 60% (correct)
- 20%
- 80%
- 40%
Which gene mutations are the most frequent in hypertrophic cardiomyopathy?
Which gene mutations are the most frequent in hypertrophic cardiomyopathy?
What proportion of early-onset myocardial infarction patients were considered to be at polygenic high risk?
What proportion of early-onset myocardial infarction patients were considered to be at polygenic high risk?
Which disease is defined as diseases of the myocardium associated with cardiac dysfunction that can manifest with near-normal life expectancy without symptoms to sudden cardiac death in youth?
Which disease is defined as diseases of the myocardium associated with cardiac dysfunction that can manifest with near-normal life expectancy without symptoms to sudden cardiac death in youth?
What type of inheritance pattern is associated with familial hypercholesterolemia?
What type of inheritance pattern is associated with familial hypercholesterolemia?
Which genes encoding myocardial components are accountable for 40–60% of hypertrophic cardiomyopathy cases?
Which genes encoding myocardial components are accountable for 40–60% of hypertrophic cardiomyopathy cases?
How many mutations in at least how many genes are responsible for hypertrophic cardiomyopathy?
How many mutations in at least how many genes are responsible for hypertrophic cardiomyopathy?
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