Key result
Three novel FHL1 variants were identified in HCM patients without known mutations, and functional studies demonstrated altered contractility and activation of the fetal hypertrophic gene program.
Why the study?
Do FHL1 mutations cause isolated hypertrophic cardiomyopathy?
Population
121 hypertrophic cardiomyopathy patients devoid of a mutation in known disease genes, and preclinical models
Comparison
FHL1 gene variants vs Wild-type/baseline
Design
Preclinical
Authors
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FHL1 variants should not yet guide HCM testing or counseling; leaves open causal role in isolated disease.
Observational (n=121)
Do FHL1 mutations cause isolated hypertrophic cardiomyopathy?
FHL1 is identified as a novel disease gene for isolated hypertrophic cardiomyopathy, with mutant proteins causing altered contractility and hypertrophy in preclinical models.
Friedrich et al. (2012) conducted an observational in Hypertrophic cardiomyopathy (n=121). FHL1 variants was evaluated on Identification of FHL1 variants and functional characterization. Three novel FHL1 variants were identified in HCM patients without known mutations, and functional studies demonstrated altered contractility and activation of the fetal hypertrophic gene program.
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