Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

被引:326
作者
Hershberger, Ray E. [1 ]
Lindenfeld, Joann [2 ]
Mestroni, Luisa [2 ,3 ]
Seidman, Christine E. [4 ,5 ]
Taylor, Matthew R. G. [2 ,3 ]
Towbin, Jeffrey A. [6 ]
机构
[1] Univ Miami, Sch Med, Div Cardiovasc, Miami, FL 33101 USA
[2] Univ Colorado, Hlth Sci Ctr, Div Cardiol, Denver, CO 80262 USA
[3] Univ Colorado, Hlth Sci Ctr, Adult Med Genet Program, Denver, CO 80262 USA
[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA
[5] Harvard Univ, Brigham & Womens Hosp, Sch Med, Cardiovasc Genet Ctr, Boston, MA 02115 USA
[6] Baylor Coll Med, Div Pediat Cardiol, Houston, TX 77030 USA
关键词
RIGHT-VENTRICULAR CARDIOMYOPATHY; LAMIN-A/C GENE; MYOSIN HEAVY-CHAIN; CARDIAC TROPONIN-I; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; X-LINKED GENE; DILATED CARDIOMYOPATHY; CONDUCTION-SYSTEM; ACTIN GENE; MUTATIONAL ANALYSIS;
D O I
10.1016/j.cardfail.2009.01.006
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Substantial progress has been made recently in understanding the genetic basis of cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM), dilated (DCM), restrictive (RCM), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and left ventricular noncompaction (LVNC). HCM, DCM, and RCM have been recognized as distinct clinical entities for decades, whereas ARVD/C and LVNC are relative newcomers to the field. Hence the clinical and genetic knowledge for each cardiomyopathy varies, as do the recommendations and strength of evidence. (J Cardiac Fail 2009;15:83-97)
引用
收藏
页码:83 / 97
页数:15
相关论文
共 111 条
[1]   Executive summary:: HFSA 2006 comprehensive heart failure practice guideline [J].
Adams, KF ;
Lindenfeld, J ;
Arnold, JMO ;
Baker, DW ;
Barnard, DH ;
Baughman, KL ;
Boehmer, JP ;
Deedwania, P ;
Dunbar, SB ;
Elkayam, U ;
Gheorghiade, M ;
Howlett, JG ;
Konstam, MA ;
Kronenberg, MW ;
Massie, BM ;
Mehra, MR ;
Miller, AB ;
Moser, DK ;
Patterson, JH ;
Rodeheffer, RJ ;
Sackner-Bernstein, J ;
Silver, MA ;
Starling, RC ;
Stevenson, LW ;
Wagoner, LE ;
Francis, GS ;
Bristow, MR ;
Cohn, JN ;
Colucci, WS ;
Greenberg, BH ;
Force, T ;
Krumholz, HM ;
Liu, PP ;
Mann, DL ;
Piña, IL ;
Pressler, SJ ;
Sabbah, HN ;
Yancy, CW .
JOURNAL OF CARDIAC FAILURE, 2006, 12 (01) :10-38
[2]   Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis [J].
Antoniades, Loizos ;
Tsatsopoulou, Adalena ;
Anastasakis, Aris ;
Syrris, Petros ;
Asimaki, Angeliki ;
Panagiotakos, Demosthenes ;
Zambartas, Costas ;
Stefanadis, Christodoulos ;
McKenna, William J. ;
Protonotarios, Nikos .
EUROPEAN HEART JOURNAL, 2006, 27 (18) :2208-2216
[3]   Glycogen storage diseases presenting as hypertrophic cardiomyopathy [J].
Arad, M ;
Maron, BJ ;
Gorham, JM ;
Johnson, WH ;
Saul, JP ;
Perez-Atayde, AR ;
Spirito, P ;
Wright, GB ;
Kanter, RJ ;
Seidman, CE ;
Seidman, JG .
NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (04) :362-372
[4]   Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy [J].
Arad, M ;
Benson, DW ;
Perez-Atayde, AR ;
McKenna, WJ ;
Sparks, EA ;
Kanter, RJ ;
McGarry, K ;
Seidman, JG ;
Seidman, CE .
JOURNAL OF CLINICAL INVESTIGATION, 2002, 109 (03) :357-362
[5]   Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease [J].
Arbustini, E ;
Pilotto, A ;
Repetto, A ;
Grasso, M ;
Negri, A ;
Diegoli, M ;
Campana, C ;
Scelsi, L ;
Baldini, E ;
Gavazzi, A ;
Tavazzi, L .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2002, 39 (06) :981-990
[6]   DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy [J].
Awad, Mark M. ;
Dalal, Darshan ;
Cho, Eunpi ;
Amat-Alarcon, Nuria ;
James, Cynthia ;
Tichnell, Crystal ;
Tucker, April ;
Russell, Stuart D. ;
Bluemke, David A. ;
Dietz, Harry C. ;
Calkins, Hugh ;
Judge, Daniel P. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 79 (01) :136-142
[7]   High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation [J].
Bécane, HM ;
Bonne, G ;
Varnous, S ;
Muchir, A ;
Ortega, V ;
Hammouda, E ;
Urtizberea, JA ;
Lavergne, T ;
Fardeau, M ;
Eymard, B ;
Weber, S ;
Schwartz, K ;
Duboc, D .
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2000, 23 (11) :1661-1666
[8]   Regulatory mutations in transforming growth factor-β3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 [J].
Beffagna, G ;
Occhi, G ;
Nava, A ;
Vitiello, L ;
Ditadi, A ;
Basso, C ;
Bauce, B ;
Carraro, G ;
Thiene, G ;
Towbin, JA ;
Danieli, GA ;
Rampazzo, A .
CARDIOVASCULAR RESEARCH, 2005, 65 (02) :366-373
[9]   Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors [J].
Berg, Alfred O. ;
Piper, Margaret ;
Armstrong, Katrina ;
Botkin, Jeffrey ;
Calonge, Ned ;
Haddow, James ;
Hayes, Maxine ;
Kaye, Celia ;
Phillips, Kathryn A. ;
Richards, Carolyn Sue ;
Scott, Joan A. ;
Strickland, Ora L. ;
Teutsch, Steven .
GENETICS IN MEDICINE, 2007, 9 (12) :819-825
[10]   ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating [J].
Bienengraeber, M ;
Olson, TM ;
Selivanov, VA ;
Kathmann, EC ;
O'Cochlain, F ;
Gao, F ;
Karger, AB ;
Ballew, JD ;
Hodgson, DM ;
Zingman, LV ;
Pang, YP ;
Alekseev, AE ;
Terzic, A .
NATURE GENETICS, 2004, 36 (04) :382-387