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, Jahrgang 104, Nr. 1, 07.2017, S. e19-e21.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Andere (Vorworte u.ä.) › Forschung
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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 -