Key result
The ACTC E101K mutation was associated with overlapping phenotypes of left ventricular non-compaction and apical hypertrophic cardiomyopathy, as well as septal defects (P=0.003 vs non-carriers).
Why the study?
Is the ACTC E101K mutation associated with specific cardiomyopathy phenotypes and septal defects in families with HCM, DCM, or LVNC?
Population
247 families with hypertrophic cardiomyopathy, dilated cardiomyopathy, or left ventricular non-compaction…
Comparison
Genetic screening for the E101K mutation in the… vs Relatives without the ACTC E101K mutation
Design
Cohort
Authors
Loading...
E101K mutation links apical HCM, LVNC, and septal defects; supports phenotypic overlap but leaves screening implications open.
Observational (n=247)
Is the ACTC E101K mutation associated with specific cardiomyopathy phenotypes and septal defects in families with HCM, DCM, or LVNC?
Absolute Event Rate: 20.9% vs 0%
p-value: p=0.003
The ACTC E101K mutation is associated with overlapping phenotypes of left ventricular non-compaction, apical hypertrophic cardiomyopathy, and septal defects.
Monserrat et al. (2007) conducted an observational in Hypertrophic cardiomyopathy, dilated cardiomyopathy, or left ventricular non-compaction (n=247). ACTC E101K mutation vs. Relatives without the mutation was evaluated on Septal defects (p=0.003). The ACTC E101K mutation was associated with overlapping phenotypes of left ventricular non-compaction and apical hypertrophic cardiomyopathy, as well as septal defects (P=0.003 vs non-carriers).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: