Autosomal dominant inheritance of left ventricular outflow tract obstruction

Marja W. Wessels; Rolf M.F. Berger; Ingrid M.E. Frohn-Mulder; Jolien W. Roos-Hesselink; Jeanette J.M. Hoogeboom; Grazia S. Mancini; Margot M. Bartelings; Ronald De Krijger; Jury W. Wladimiroff; Martinus F. Niermeijer; Paul Grossfeld; Patrick J. Willems

doi:10.1002/ajmg.a.30601

Autosomal dominant inheritance of left ventricular outflow tract obstruction

Marja W. Wessels, Rolf M.F. Berger, Ingrid M.E. Frohn-Mulder, Jolien W. Roos-Hesselink, Jeanette J.M. Hoogeboom, Grazia S. Mancini, Margot M. Bartelings, Ronald De Krijger, Jury W. Wladimiroff, Martinus F. Niermeijer, Paul Grossfeld, Patrick J. Willems

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

72 Citaten (Scopus)

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Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.

Originele taal-2	Engels
Pagina's (van-tot)	171-179
Aantal pagina's	9
Tijdschrift	American Journal of Medical Genetics
Volume	134 A
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1002/ajmg.a.30601
Status	Gepubliceerd - 15 apr. 2005
Extern gepubliceerd	Ja

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Wessels, M. W., Berger, R. M. F., Frohn-Mulder, I. M. E., Roos-Hesselink, J. W., Hoogeboom, J. J. M., Mancini, G. S., Bartelings, M. M., De Krijger, R., Wladimiroff, J. W., Niermeijer, M. F., Grossfeld, P., & Willems, P. J. (2005). Autosomal dominant inheritance of left ventricular outflow tract obstruction. American Journal of Medical Genetics, 134 A(2), 171-179. https://doi.org/10.1002/ajmg.a.30601

@article{823e0d7959114835a6b7007e793f610b,

title = "Autosomal dominant inheritance of left ventricular outflow tract obstruction",

abstract = "Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.",

keywords = "Autosomal dominant, Left ventricular outflow tract obstruction, LVOTO, Prenatal diagnosis",

author = "Wessels, {Marja W.} and Berger, {Rolf M.F.} and Frohn-Mulder, {Ingrid M.E.} and Roos-Hesselink, {Jolien W.} and Hoogeboom, {Jeanette J.M.} and Mancini, {Grazia S.} and Bartelings, {Margot M.} and {De Krijger}, Ronald and Wladimiroff, {Jury W.} and Niermeijer, {Martinus F.} and Paul Grossfeld and Willems, {Patrick J.}",

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doi = "10.1002/ajmg.a.30601",

language = "English",

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journal = "American Journal of Medical Genetics",

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Wessels, MW, Berger, RMF, Frohn-Mulder, IME, Roos-Hesselink, JW, Hoogeboom, JJM, Mancini, GS, Bartelings, MM, De Krijger, R, Wladimiroff, JW, Niermeijer, MF, Grossfeld, P & Willems, PJ 2005, 'Autosomal dominant inheritance of left ventricular outflow tract obstruction', American Journal of Medical Genetics, vol. 134 A, nr. 2, blz. 171-179. https://doi.org/10.1002/ajmg.a.30601

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T1 - Autosomal dominant inheritance of left ventricular outflow tract obstruction

AU - Wessels, Marja W.

AU - Berger, Rolf M.F.

AU - Frohn-Mulder, Ingrid M.E.

AU - Roos-Hesselink, Jolien W.

AU - Hoogeboom, Jeanette J.M.

AU - Mancini, Grazia S.

AU - Bartelings, Margot M.

AU - De Krijger, Ronald

AU - Wladimiroff, Jury W.

AU - Niermeijer, Martinus F.

AU - Grossfeld, Paul

AU - Willems, Patrick J.

PY - 2005/4/15

Y1 - 2005/4/15

N2 - Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.

AB - Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.

KW - Autosomal dominant

KW - Left ventricular outflow tract obstruction

KW - LVOTO

KW - Prenatal diagnosis

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DO - 10.1002/ajmg.a.30601

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AN - SCOPUS:20144388451

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VL - 134 A

SP - 171

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JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

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Autosomal dominant inheritance of left ventricular outflow tract obstruction

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