Key result
Phospholamban R14del mutation is rare in dilated cardiomyopathy, presenting in ~0.4% with late-onset disease.
Why the study?
Mutations in the phospholamban gene (PLN) have been linked to early-onset dilated cardiomyopathy with lethal ventricular arrhythmias, motivating an evaluation of the broader phenotypic spectrum associated with PLN mutations.
Cohort (n=260)
No
The identical phospholamban (PLN) R14 deletion mutation can be associated with both mild, late-onset (seventh decade) and severe forms of dilated cardiomyopathy, indicating that PLN mutations should be considered in late-onset cardiomyopathy.
May inform genetic evaluation in late-onset DCM families; leaves open prospective validation of penetrance and progression.
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)
No takes yet. Share an insight, caveat, or question.
DeWitt et al. (2006) conducted a cohort in Dilated cardiomyopathy (n=260). Phospholamban (PLN) R14 deletion mutation was evaluated on Prevalence and phenotypic spectrum of phospholamban (PLN) gene mutations. Phospholamban R14 deletion was identified in 1 of 260 (0.38%) unrelated dilated cardiomyopathy families, presenting as late-onset, mildly symptomatic disease in the seventh decade.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: