Autosomal dominant inheritance of left ventricular outflow tract obstruction

Marjolein Wessels; Rudolphus 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

Marjolein Wessels
, Rudolphus 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

Cardiovascular Centre (CVC)

Research output: Contribution to journal › Article › Academic › peer-review

75 Citations (Scopus)

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.

Original language	English
Pages (from-to)	171-179
Number of pages	9
Journal	American Journal of Medical Genetics. Part A
Volume	134A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30601
Publication status	Published - 15-Apr-2005

Keywords

left ventricular outflow tract obstruction
LVOTO
autosomal dominant
prenatal diagnosis
HYPOPLASTIC LEFT-HEART
HOLT-ORAM-SYNDROME
APLASIA-CUTIS-CONGENITA
HOMEOBOX GENE NKX2-5
ATRIAL SEPTAL-DEFECT
AORTIC-ARCH
MICE LACKING
CARDIOVASCULAR DEVELOPMENT
FAMILIAL COARCTATION
TARGETED DISRUPTION

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Wessels, M., Berger, R., Frohn-Mulder, I. M. E., Roos-Hesselink, J. W., Hoogeboom, J. J. M., Mancini, G. S., Bartelings, M. M., Krijger, R. D., 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. Part A, 134A(2), 171-179. https://doi.org/10.1002/ajmg.a.30601

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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.",

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author = "Marjolein Wessels and Rudolphus Berger 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 Krijger, \{Ronald de\} 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",

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Wessels, M, Berger, R, Frohn-Mulder, IME, Roos-Hesselink, JW, Hoogeboom, JJM, Mancini, GS, Bartelings, MM, Krijger, RD, Wladimiroff, JW, Niermeijer, MF, Grossfeld, P & Willems, PJ 2005, 'Autosomal dominant inheritance of left ventricular outflow tract obstruction', American Journal of Medical Genetics. Part A, vol. 134A, no. 2, pp. 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, Marjolein

AU - Berger, Rudolphus

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 - Krijger, Ronald de

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 - left ventricular outflow tract obstruction

KW - LVOTO

KW - autosomal dominant

KW - prenatal diagnosis

KW - HYPOPLASTIC LEFT-HEART

KW - HOLT-ORAM-SYNDROME

KW - APLASIA-CUTIS-CONGENITA

KW - HOMEOBOX GENE NKX2-5

KW - ATRIAL SEPTAL-DEFECT

KW - AORTIC-ARCH

KW - MICE LACKING

KW - CARDIOVASCULAR DEVELOPMENT

KW - FAMILIAL COARCTATION

KW - TARGETED DISRUPTION

U2 - 10.1002/ajmg.a.30601

DO - 10.1002/ajmg.a.30601

M3 - Article

C2 - 15712195

SN - 1552-4825

VL - 134A

SP - 171

EP - 179

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

IS - 2

ER -

Autosomal dominant inheritance of left ventricular outflow tract obstruction

Abstract

Keywords

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