Prevalence and cardiac phenotype of patients with aphospholamban mutation

被引：60

作者：

Hof, I. E. ^{[1
]}

van der Heijden, J. F. ^{[1
]}

Kranias, E. G. ^{[2
]}

Sanoudou, D. ^{[3
]}

de Boer, R. A. ^{[4
]}

van Tintelen, J. P. ^{[5
]}

van der Zwaag, P. A. ^{[6
]}

Doevendans, P. A. ^{[1
,7
,8
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Cardiol, Utrecht, Netherlands

[2] Univ Cincinnati, Coll Med, Dept Pharmacol & Cell Biophys, Cincinnati, OH USA

[3] Acad Athens, Dept Mol Biol, Ctr Basic Res, Biomed Res Fdn, Athens, Greece

[4] Univ Med Ctr Groningen, Dept Cardiol, Groningen, Netherlands

[5] Acad Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[6] Univ Med Ctr Groningen, Dept Clin Genet, Groningen, Netherlands

[7] Cent Mil Hosp, Dept Cardiol, Utrecht, Netherlands

[8] Netherlands Heart Inst, Utrecht, Netherlands

来源：

NETHERLANDS HEART JOURNAL | 2019年 / 27卷 / 02期

关键词：

Phospholamban; Arrhythmogenic cardiomyopathy; Dilated cardiomyopathy; Phenotype; PHOSPHOLAMBAN P.ARG14DEL MUTATION; DILATED CARDIOMYOPATHY; ESC GUIDELINES; CARRIERS; LETHAL;

D O I：

10.1007/s12471-018-1211-4

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Pathogenic mutations in the phospholamban (PLN) gene may give rise to inherited cardiomyopathies due to its role in calcium homeostasis. Several PLN mutations have been identified, with the R14del mutation being the most prevalent cardiomyopathy-related mutation in the Netherlands. It is present in patients diagnosed with arrhythmogenic cardiomyopathy as well as dilated cardiomyopathy. Awareness of the phenotype of this PLN mutation is of great importance, since many carriers remain to be identified. Patients with the R14del mutation are characterised by older age at onset, low-voltage electrocardiograms and ahigh frequency of ventricular arrhythmias. Additionally, these patients have apoor prognosis often with left ventricular dysfunction and early-onset heart failure. Therefore, when there is asuspicion of aPLN mutation, cardiac and genetic screening is strongly recommended.

引用

页码：64 / 69

页数：6

共 21 条

[1] Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers [J].

Bhonsale, Aditya ;

Groeneweg, Judith A. ;

James, Cynthia A. ;

Dooijes, Dennis ;

Tichnell, Crystal ;

Jongbloed, Jan D. H. ;

Murray, Brittney ;

Riele, Anneline S. J. M. te ;

van den Berg, Maarten P. ;

Bikker, Hennie ;

Atsma, Douwe E. ;

de Groot, Natasja M. ;

Houweling, Arjan C. ;

van der Heijden, Jeroen F. ;

Russell, Stuart D. ;

Doevendans, Pieter A. ;

van Veen, Toon A. ;

Tandri, Harikrishna ;

Wilde, Arthur A. ;

Judge, Daniel P. ;

van Tintelen, J. Peter ;

Calkins, Hugh ;

Hauer, Richard N. .

EUROPEAN HEART JOURNAL, 2015, 36 (14) :847-855

[2] Influence of Genotype on Structural Atrial Abnormalities and Atrial Fibrillation or Flutter in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy [J].

Bourfiss, Mimount ;

Te Riele, Anneline S. J. M. ;

Mast, Thomas P. ;

Cramer, Maarten J. ;

Van der Heijden, Jeroen F. ;

Van Veen, Toon A. B. ;

Loh, Peter ;

Dooijes, Dennis ;

Hauer, Richard N. W. ;

Velthuis, Birgitta K. .

JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2016, 27 (12) :1420-1428

[3] Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy [J].

DeWitt, Megan M. ;

MacLeod, Heather M. ;

Soliven, Betty ;

McNally, Elizabeth M. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2006, 48 (07) :1396-1398

[4] Phospholamban and cardiac contractility [J].

Frank, K ;

Kranias, EG .

ANNALS OF MEDICINE, 2000, 32 (08) :572-578

[5] Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers [J].

Groeneweg, Judith A. ;

van der Zwaag, Paul A. ;

Nordkamp, Louise R. A. Olde ;

Bikker, Hennie ;

Jongbloed, Jan D. H. ;

Jongbloed, Roselie ;

Wiesfeld, Ans C. P. ;

Cox, Moniek G. P. J. ;

van der Heijden, Jeroen F. ;

Atsma, Douwe E. ;

de Boer, Karin ;

Doevendans, Pieter A. ;

Vink, Aryan ;

van Veen, Toon A. B. ;

Dooijes, Dennis ;

van den Berg, Maarten P. ;

Wilde, Arthur A. M. ;

van Tintelen, J. Peter ;

Hauer, Richard N. .

AMERICAN JOURNAL OF CARDIOLOGY, 2013, 112 (08) :1197-1206

[6] A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy [J].

Haghighi, K ;

Kolokathis, F ;

Gramolini, AO ;

Waggoner, JR ;

Pater, L ;

Lynch, RA ;

Fan, GC ;

Tsiapras, D ;

Parekh, RR ;

Dorn, GW ;

MacLennan, DH ;

Kremastinos, DT ;

Kranias, EG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (05) :1388-1393

[7] Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human [J].

Haghighi, K ;

Kolokathis, F ;

Pater, L ;

Lynch, RA ;

Asahi, M ;

Gramolini, AO ;

Fan, GC ;

Tsiapras, D ;

Hahn, HS ;

Adamopoulos, S ;

Liggett, SB ;

Dorn, GW ;

MacLennan, DH ;

Kremastinos, DT ;

Kranias, EG .

JOURNAL OF CLINICAL INVESTIGATION, 2003, 111 (06) :869-876

[8] The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase [J].

Haghighi, Kobra ;

Pritchard, Tracy ;

Bossuyt, Julie ;

Waggoner, Jason R. ;

Yuan, Qunying ;

Fan, Guo-Chang ;

Osinska, Hanna ;

Anjak, Ahmad ;

Rubinstein, Jack ;

Robbins, Jeffrey ;

Bers, Donald M. ;

Kranias, Evangelia G. .

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2012, 52 (03) :773-782

[9] Modulation of Cardiac Contractility by the Phopholamban/SERCA2a Regulatome [J].

Kranias, Evangelia G. ;

Hajjar, Roger J. .

CIRCULATION RESEARCH, 2012, 110 (12) :1646-1660

[10] A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia [J].

Liu, Guan-Sheng ;

Morales, Ana ;

Vafiadaki, Elizabeth ;

Lam, Chi Keung ;

Cai, Wen-Feng ;

Haghighi, Kobra ;

Adly, George ;

Hershberger, Ray E. ;

Kranias, Evangelia G. .

CARDIOVASCULAR RESEARCH, 2015, 107 (01) :164-174

← 1 2 3 →