Key result
MyBP-C gene mutations were associated with a similar clinical phenotype to beta-myosin heavy chain mutations but had a more benign prognosis, with a 90% survival rate at 50 years (P=0.002).
Why the study?
Does the MyBP-C gene mutation result in a different clinical phenotype or prognosis compared to beta-MHC gene mutations in patients with familial hypertrophic cardiomyopathy?
Population
68 adults from families with familial hypertrophic cardiomyopathy, including 33 with a splice acceptor site…
Comparison
Splice acceptor site mutation in the cardiac… vs Mutations in the beta-myosin heavy chain gene
Design
Cohort
Authors
Loading...
Should not yet alter HCM risk stratification; leaves open larger prospective validation of genotype-specific prognosis.
Observational (n=68)
Does the MyBP-C gene mutation result in a different clinical phenotype or prognosis compared to beta-MHC gene mutations in patients with familial hypertrophic cardiomyopathy?
p-value: p=0.002
Mutations in the MyBP-C gene and beta-MHC gene in familial hypertrophic cardiomyopathy share similar phenotypic expressions but differ in long-term prognosis.
Philippe Charron (1998) conducted an observational in Familial hypertrophic cardiomyopathy (n=68). MyBP-C gene mutation vs. Beta-myosin heavy chain gene mutation was evaluated on Cumulative survival rate at 50 years old (p=0.002). MyBP-C gene mutations were associated with a similar clinical phenotype to beta-myosin heavy chain mutations but had a more benign prognosis, with a 90% survival rate at 50 years (P=0.002).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: