Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
MM DeWitt, HM MacLeod, B Soliven… - Journal of the American …, 2006 - jacc.org
MM DeWitt, HM MacLeod, B Soliven, EM McNally
Journal of the American College of Cardiology, 2006•jacc.orgObjectives: The purpose of this research was to determine the phenotypic spectrum
associated with phospholamban gene (PLN) mutations. Background: Inheritance contributes
to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have
been associated with dilated cardiomyopathy characterized by early onset and the presence
of lethal ventricular arrhythmias. Methods: We screened a cohort of 260 unrelated dilated
cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene …
associated with phospholamban gene (PLN) mutations. Background: Inheritance contributes
to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have
been associated with dilated cardiomyopathy characterized by early onset and the presence
of lethal ventricular arrhythmias. Methods: We screened a cohort of 260 unrelated dilated
cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene …
Objectives
The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations.
Background
Inheritance contributes to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have been associated with dilated cardiomyopathy characterized by early onset and the presence of lethal ventricular arrhythmias.
Methods
We screened a cohort of 260 unrelated dilated cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene.
Results
Family history of cardiomyopathy was present in approximately one-half the individuals in this cohort. We identified 1 family with a deletion of arginine 14 in the PLN. Interestingly, unlike other individuals reported with the identical PLN mutation, these individuals were not diagnosed with dilated cardiomyopathy until their seventh decade when they were only mildly symptomatic with congestive heart failure.
Conclusions
The identical PLN mutation can be associated with both mild and severe forms of dilated cardiomyopathy. Additionally, PLN mutations should be considered in late onset cardiomyopathy. (Genetics of Cardiovascular and Neuromuscular Disease; http://www.clinicaltrials.gov/ct/show/NCT00138931?order=1; NCT00138931)
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