9 Questions
Which genetic testing allows the assessment of genotype–phenotype correlations in hypertrophic cardiomyopathy?
MYH7 and MYBPC3
What is the estimated prevalence of hypertrophic cardiomyopathy in the general population?
1 in 500
What percentage of patients with hypertrophic cardiomyopathy have a family history showing autosomal dominant inheritance?
60%
Which gene mutations are the most frequent in hypertrophic cardiomyopathy?
MYH7 and MYBPC3
What proportion of early-onset myocardial infarction patients were considered to be at polygenic high risk?
~17.3%
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?
Hypertrophic cardiomyopathy
What type of inheritance pattern is associated with familial hypercholesterolemia?
Autosomal dominant inheritance
Which genes encoding myocardial components are accountable for 40–60% of hypertrophic cardiomyopathy cases?
Genes encoding sarcomere components
How many mutations in at least how many genes are responsible for hypertrophic cardiomyopathy?
Over 1400 mutations in at least 11 genes
Test your knowledge on the assessment of secondary endpoints and risk stratification of cardiac events in patients with long-QT syndrome (LQTS). Explore topics such as blood test results, smoking status, lipid-lowering agents, genotype correlation, and personalized medicine.
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