April 23, 1992Open Access
View Full PaperCharacteristics and Prognostic Implications of Myosin Missense Mutations in Familial Hypertrophic Cardiomyopathy
Structured PICO
Does the precise definition of disease-causing missense mutations in the beta cardiac myosin heavy-chain gene provide prognostic information regarding survival in families with hypertrophic cardiomyopathy?
P
Population
Families with hypertrophic cardiomyopathy
I
Intervention
Identification of specific missense mutations in the beta cardiac myosin heavy-chain gene
O
Outcome
Survivalhard clinical
Identifying specific missense mutations in the beta cardiac myosin heavy-chain gene provides important prognostic information regarding survival in familial hypertrophic cardiomyopathy.
Abstract
Different missense mutations in the beta cardiac myosin heavy-chain gene can be identified in approximately 50 percent of families with hypertrophic cardiomyopathy. In those families, a definite genetic diagnosis can be made in all members. Since the location of a mutation or its DNA-sequence alteration (or both) appears to influence survival, we suggest that the precise definition of the disease-causing mutation can provide important prognostic information about affected members.