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Updated: Jun 8, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Late Phenotypic Expression of Hypertrophic Cardiomyopathy: When to Stop Looking?
Aakash Bavishi1, Robyn Bryde2, Matthew W Martinez2
1University of Illinois-Chicago, Chicago, Illinois, USA.
Abstract:
Guidelines recommend clinical assessment, an electrocardiogram, and imaging every 3 to 5 years in adults who are genotype positive, phenotype negative for hypertrophic cardiomyopathy (HCM) or who have a first-degree relative with genotype-negative HCM. The age to stop screening is unclear. We report 4 cases of individuals transitioning from phenotype-negative to phenotype-positive HCM at various ages.
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