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Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation

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Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation. / Disha, Kushtrim; Schulz, Solveig; Kuntze, Thomas; Girdauskas, Evaldas.

In: ANN THORAC SURG, Vol. 104, No. 1, 07.2017, p. e19-e21.

Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

Harvard

Disha, K, Schulz, S, Kuntze, T & Girdauskas, E 2017, 'Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation', ANN THORAC SURG, vol. 104, no. 1, pp. e19-e21. https://doi.org/10.1016/j.athoracsur.2017.01.103

APA

Disha, K., Schulz, S., Kuntze, T., & Girdauskas, E. (2017). Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation. ANN THORAC SURG, 104(1), e19-e21. https://doi.org/10.1016/j.athoracsur.2017.01.103

Vancouver

Disha K, Schulz S, Kuntze T, Girdauskas E. Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation. ANN THORAC SURG. 2017 Jul;104(1):e19-e21. https://doi.org/10.1016/j.athoracsur.2017.01.103

Bibtex

@article{3f530a1a57e842fc9be3ddeed644921d,
title = "Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation",
abstract = "We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation. This rare case illustrates potentially common genetic and signaling pathways of concomitant myxomatous valve disease and aortic root dilatation.",
keywords = "Aortic Aneurysm, Thoracic/diagnosis, Cardiac Surgical Procedures/methods, DNA/genetics, DNA Mutational Analysis, Echocardiography, Transesophageal, Female, Humans, Middle Aged, Mitral Valve Prolapse/diagnosis, Multidetector Computed Tomography, Mutation, Transforming Growth Factor beta2/genetics",
author = "Kushtrim Disha and Solveig Schulz and Thomas Kuntze and Evaldas Girdauskas",
note = "Copyright {\textcopyright} 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.",
year = "2017",
month = jul,
doi = "10.1016/j.athoracsur.2017.01.103",
language = "English",
volume = "104",
pages = "e19--e21",
journal = "ANN THORAC SURG",
issn = "0003-4975",
publisher = "Elsevier USA",
number = "1",

}

RIS

TY - JOUR

T1 - Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation

AU - Disha, Kushtrim

AU - Schulz, Solveig

AU - Kuntze, Thomas

AU - Girdauskas, Evaldas

N1 - Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

PY - 2017/7

Y1 - 2017/7

N2 - We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation. This rare case illustrates potentially common genetic and signaling pathways of concomitant myxomatous valve disease and aortic root dilatation.

AB - We report on a patient operated on for degenerative myxomatous mitral and tricuspid valve disease (Barlow's disease) and aortic root dilatation. A valve repair operation and the postoperative course were uneventful. Multigenerational genetic analyses revealed two different mutations in the transforming growth factor beta-2 gene in the same patient. The two mutations in different exons were inherited from both parents each. None of the parents presented with either valve dysfunction or aortic root dilatation. This rare case illustrates potentially common genetic and signaling pathways of concomitant myxomatous valve disease and aortic root dilatation.

KW - Aortic Aneurysm, Thoracic/diagnosis

KW - Cardiac Surgical Procedures/methods

KW - DNA/genetics

KW - DNA Mutational Analysis

KW - Echocardiography, Transesophageal

KW - Female

KW - Humans

KW - Middle Aged

KW - Mitral Valve Prolapse/diagnosis

KW - Multidetector Computed Tomography

KW - Mutation

KW - Transforming Growth Factor beta2/genetics

U2 - 10.1016/j.athoracsur.2017.01.103

DO - 10.1016/j.athoracsur.2017.01.103

M3 - Other (editorial matter etc.)

C2 - 28633253

VL - 104

SP - e19-e21

JO - ANN THORAC SURG

JF - ANN THORAC SURG

SN - 0003-4975

IS - 1

ER -