Why the study?
Does double heterozygosity for MYH7 and MYBPC3 mutations result in a more severe phenotype in familial hypertrophic cardiomyopathy?
Population
15 subjects from a French Caribbean family, 8 of whom were affected with hypertrophic cardiomyopathy based…
Comparison
Double heterozygosity for mutations in the… vs Single mutation carriers within the same family.
Design
Case_series
Key result
Double heterozygosity for MYH7 and MYBPC3 mutations in familial hypertrophic cardiomyopathy is associated with significantly greater left ventricular hypertrophy than single mutations.
Authors
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Double heterozygosity for MYH7 and MYBPC3 mutations in familial hypertrophic cardiomyopathy is not lethal but is associated with a more severe phenotype of left ventricular hypertrophy.
Observational (n=15)
No
Does double heterozygosity for MYH7 and MYBPC3 mutations result in a more severe phenotype in familial hypertrophic cardiomyopathy?
Double heterozygosity for MYH7 and MYBPC3 mutations in familial hypertrophic cardiomyopathy is not lethal but is associated with a more severe phenotype of left ventricular hypertrophy.
Richard et al. (1999) conducted an observational in Familial hypertrophic cardiomyopathy (n=15). Double heterozygosity for MYH7 and MYBPC3 mutations vs. Single mutation carriers was evaluated on Left ventricular hypertrophy severity. Double heterozygosity for MYH7 and MYBPC3 mutations in familial hypertrophic cardiomyopathy is associated with significantly greater left ventricular hypertrophy than single mutations.