Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
Why the study?
Although LMNA mutations have been identified in patients with dilated cardiomyopathy, conduction defects, and muscular dystrophy, the clinical spectrum, prognosis, and clinical relevance of laminopathies in DCM remain unknown.
Does the presence of LMNA mutations worsen survival in patients with dilated cardiomyopathy?
Population
49 nuclear families (269 subjects, 105 affected) with familial or sporadic DCM
Comparison
LMNA mutation carriers vs non-carrier DCM patients
Design
Cohort study
Authors
Discussion
Loading...
Member takes
Implication
Hypothesis-generating for LMNA screening in DCM with conduction defects or myopathy; prospective trials needed before clinical adoption.
Structured PICO
Does the presence of LMNA mutations worsen survival in patients with dilated cardiomyopathy?
P
Population
49 nuclear families, 40 with familial dilated cardiomyopathy (DCM) and 9 with sporadic DCM (269 subjects, 105 affected)
I
Intervention
Presence of lamin A/C gene (LMNA) mutations
C
Comparator
Non-carrier DCM patients
O
Outcome
Cumulative survival (event-free survival at age 45 years)hard clinical
LMNA mutations cause a severe and progressive form of dilated cardiomyopathy with significantly poorer survival, suggesting mutation screening should be considered in DCM patients with specific clinical predictors.
Cite This Study
Taylor et al. (2003) studied this question.