This Article Figures Only Full Text Full Text (PDF) All Versions of this Article: j.jacc.2006.07.016v1 48/7/1396    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Web of Science (7) Citing Articles via Google Scholar Google Scholar Articles by DeWitt, M. M. Articles by McNally, E. M. Search for Related Content PubMed PubMed Citation Articles by DeWitt, M. M. Articles by McNally, E. M.

CLINICAL RESEARCH: HEART FAILURE

Phospholamban R14 Deletion Results in Late-Onset, Mild, Hereditary Dilated Cardiomyopathy

Megan M. DeWitt, BS^_*, Heather M. MacLeod, MS^_*, Betty Soliven, MD and Elizabeth M. McNally, MD, PhD^_*,,_*

^_* Department to Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois
Department to Neurology, The University of Chicago, Chicago, Illinois
Department to Human Genetics, The University of Chicago, Chicago, Illinois.

Manuscript received April 6, 2006; revised manuscript received July 10, 2006, accepted July 10, 2006.

^_* Reprint requests and correspondence: Dr. Elizabeth M. McNally, 5841 S. Maryland, MC6088, Chicago, Illinois 60637. (Email: emcnallly{at}medicine.bsd.uchicago.edu).

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 [ClinicalTrials.gov] )

Abbreviations and Acronyms   DCM = dilated cardiomyopathy   LV = left ventricle/ventricular   PLN = phospholamban gene   PLN R14del = deletion of R14 in phospholamban   PKA = protein kinase A   SERCA2a = sarcoplasmic reticulum calcium ATPase 2a

This article has been cited by other articles:

				J. R. Pinto, J. D. Siegfried, M. S. Parvatiyar, D. Li, N. Norton, M. A. Jones, J. Liang, J. D. Potter, and R. E. Hershberger Functional Characterization of TNNC1 Rare Variants Identified in Dilated Cardiomyopathy J. Biol. Chem., September 30, 2011; 286(39): 34404 - 34412. [Abstract] [Full Text] [PDF]

				R. E. Hershberger and J. D. Siegfried Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy J. Am. Coll. Cardiol., April 19, 2011; 57(16): 1641 - 1649. [Abstract] [Full Text] [PDF]

				F. Garofalo, M. L. Parisella, D. Amelio, B. Tota, and S. Imbrogno Phospholamban S-nitrosylation modulates Starling response in fish heart Proc R Soc B, November 22, 2009; 276(1675): 4043 - 4052. [Abstract] [Full Text] [PDF]