Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

K. van Engelen; A. V. Postma; J. B. A. van de Meerakker; J. W. Roos-Hesselink; A. T. J. M. Helderman-van den Enden; H. W. Vliegen; T. Rahman; M. J. H. Baars; J.-W. Sels; U. Bauer; T. Pickardt; S. R. Sperling; A. F. M. Moorman; B. Keavney; J. Goodship; S. Klaassen; B. J. M. Mulder

doi:10.1007/s12471-011-0141-1

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

K. van Engelen
, A. V. Postma
, J. B. A. van de Meerakker
, J. W. Roos-Hesselink
, A. T. J. M. Helderman-van den Enden
, H. W. Vliegen
, T. Rahman
, M. J. H. Baars
, J.-W. Sels
, U. Bauer
, T. Pickardt
, S. R. Sperling
, A. F. M. Moorman
, B. Keavney
, J. Goodship
, S. Klaassen
, B. J. M. Mulder

Research output: Contribution to journal › Review article › Academic › peer-review

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 beta-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

Original language	English
Pages (from-to)	113-117
Number of pages	5
Journal	Netherlands heart journal
Volume	21
Issue number	3
DOIs	https://doi.org/10.1007/s12471-011-0141-1
Publication status	Published - Mar 2013

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Cardiomyopathy
Ebstein anomaly
Genetics
Heart defects, Congenital
Isolated noncompaction of the ventricular myocardium

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10.1007/s12471-011-0141-1

Cite this

van Engelen, K., Postma, A. V., van de Meerakker, J. B. A., Roos-Hesselink, J. W., Helderman-van den Enden, A. T. J. M., Vliegen, H. W., Rahman, T., Baars, M. J. H., Sels, J.-W., Bauer, U., Pickardt, T., Sperling, S. R., Moorman, A. F. M., Keavney, B., Goodship, J., Klaassen, S., & Mulder, B. J. M. (2013). Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Netherlands heart journal, 21(3), 113-117. https://doi.org/10.1007/s12471-011-0141-1

@article{d3099785ffc44a858ca55704907560d8,

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 beta-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",

keywords = "Cardiomyopathy, Ebstein anomaly, Genetics, Heart defects, Congenital, Isolated noncompaction of the ventricular myocardium",

author = "\{van Engelen\}, K. and Postma, \{A. V.\} and \{van de Meerakker\}, \{J. B. A.\} and Roos-Hesselink, \{J. W.\} and \{Helderman-van den Enden\}, \{A. T. J. M.\} and Vliegen, \{H. W.\} and T. Rahman and Baars, \{M. J. H.\} and J.-W. Sels and U. Bauer and T. Pickardt and Sperling, \{S. R.\} and Moorman, \{A. F. M.\} and B. Keavney and J. Goodship and S. Klaassen and Mulder, \{B. J. M.\}",

year = "2013",

month = mar,

doi = "10.1007/s12471-011-0141-1",

language = "English",

volume = "21",

pages = "113--117",

journal = "Netherlands heart journal",

issn = "1568-5888",

publisher = "Bohn Stafleu Van Loghum",

number = "3",

}

van Engelen, K , Postma, AV, van de Meerakker, JBA, Roos-Hesselink, JW, Helderman-van den Enden, ATJM, Vliegen, HW, Rahman, T, Baars, MJH, Sels, J-W, Bauer, U, Pickardt, T, Sperling, SR, Moorman, AFM, Keavney, B, Goodship, J, Klaassen, S & Mulder, BJM 2013, 'Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7', Netherlands heart journal, vol. 21, no. 3, pp. 113-117. https://doi.org/10.1007/s12471-011-0141-1

TY - JOUR

T1 - Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

AU - van Engelen, K.

AU - Postma, A. V.

AU - van de Meerakker, J. B. A.

AU - Roos-Hesselink, J. W.

AU - Helderman-van den Enden, A. T. J. M.

AU - Vliegen, H. W.

AU - Rahman, T.

AU - Baars, M. J. H.

AU - Sels, J.-W.

AU - Bauer, U.

AU - Pickardt, T.

AU - Sperling, S. R.

AU - Moorman, A. F. M.

AU - Keavney, B.

AU - Goodship, J.

AU - Klaassen, S.

AU - Mulder, B. J. M.

PY - 2013/3

Y1 - 2013/3

N2 - 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 beta-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

AB - 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 beta-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

KW - Cardiomyopathy

KW - Ebstein anomaly

KW - Genetics

KW - Heart defects, Congenital

KW - Isolated noncompaction of the ventricular myocardium

UR - https://www.scopus.com/pages/publications/84874705105

U2 - 10.1007/s12471-011-0141-1

DO - 10.1007/s12471-011-0141-1

M3 - Review article

C2 - 21604106

SN - 1568-5888

VL - 21

SP - 113

EP - 117

JO - Netherlands heart journal

JF - Netherlands heart journal

IS - 3

ER -

Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7

Abstract

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Keywords

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