title: Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
abstract: Ebstein's anomaly is a rare congenital heart malformation characterised by adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium. Associated abnormalities of left ventricular morphology and function including left ventricular noncompaction (LVNC) have been observed. An association between Ebstein's anomaly with LVNC and mutations in the sarcomeric protein gene MYH7, encoding β-myosin heavy chain, has been shown by recent studies. This might represent a specific subtype of Ebstein's anomaly with a Mendelian inheritance pattern. In this review we discuss the association of MYH7 mutations with Ebstein's anomaly and LVNC and its implications for the clinical care for patients and their family members.
authors: Department of Cardiology, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands.
authors: K
authors: K
authors: van Engelen
authors: A V
authors: AV
authors: Postma
authors: J B A
authors: JB
authors: van de Meerakker
authors: J W
authors: JW
authors: Roos-Hesselink
authors: A T J M
authors: AT
authors: Helderman-van den Enden
authors: H W
authors: HW
authors: Vliegen
authors: T
authors: T
authors: Rahman
authors: M J H
authors: MJ
authors: Baars
authors: J-W
authors: JW
authors: Sels
authors: U
authors: U
authors: Bauer
authors: T
authors: T
authors: Pickardt
authors: S R
authors: SR
authors: Sperling
authors: A F M
authors: AF
authors: Moorman
authors: B
authors: B
authors: Keavney
authors: J
authors: J
authors: Goodship
authors: S
authors: S
authors: Klaassen
authors: B J M
authors: BJ
authors: Mulder
references: J Clin Invest. 1999 Dec;104(11):1567-73
references: 10587520
references: J Am Soc Echocardiogr. 2004 Jun;17(6):677-80
references: 15163943
references: Int J Cardiol. 2005 Jul 10;102(2):297-302
references: 15982500
references: Circulation. 2008 Jun 3;117(22):2893-901
references: 18506004
references: Circulation. 2008 Oct 14;118(16):e662-4
references: 18852371
references: Eur Heart J. 2010 Nov;31(22):2715-26
references: 20823110
references: PLoS One. 2007 Dec 26;2(12):e1362
references: 18159245
references: Mayo Clin Proc. 2005 Mar;80(3):361-8
references: 15757018
references: Nat Genet. 2006 Mar;38(3):343-9
references: 16444274
references: Circulation. 2007 Jan 16;115(2):277-85
references: 17228014
references: Nat Genet. 2007 Dec;39(12):1488-93
references: 17994018
references: Circulation. 2006 Apr 11;113(14):1807-16
references: 16567565
references: Pediatr Cardiol. 2009 Jul;30(5):626-34
references: 19396388
references: Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):251-5
references: 16095036
references: J Med Genet. 2006 Oct;43(10):829-32
references: 16679492
references: Nat Genet. 2005 Apr;37(4):423-8
references: 15735645
references: Circ Res. 2004 Sep 17;95(6):645-54
references: 15297379
references: Circ Cardiovasc Genet. 2010 Jun;3(3):232-9
references: 20530761
references: J Am Coll Cardiol. 2000 Aug;36(2):493-500
references: 10933363
references: Am J Med Genet A. 2005 Dec 1;139A(2):141-5
references: 16278886
references: Hum Mol Genet. 2008 Jan 15;17(2):256-65
references: 17947298
references: Circ Cardiovasc Genet. 2011 Feb;4(1):43-50
references: 21127202
references: Am J Dis Child. 1989 May;143(5):570-2
references: 2718992
references: J Card Fail. 2006 Dec;12(9):726-33
references: 17174235
references: Teratology. 1994 Aug;50(2):137-47
references: 7801301
references: J Cell Biol. 2004 Jan 5;164(1):97-109
references: 14709543
references: Eur Heart J. 2007 Aug;28(16):1953-61
references: 17611253
references: Circ Cardiovasc Genet. 2009 Oct;2(5):442-9
references: 20031619
references: Heart. 2001 Dec;86(6):666-71
references: 11711464
references: Thorac Cardiovasc Surg. 2000 Aug;48(4):203-8
references: 11005593