Transforming Growth Factor Beta-2 Mutations in Barlow's Disease and Aortic Dilatation.
Ann Thorac Surg
; 104(1): e19-e21, 2017 Jul.
Article
em En
| MEDLINE
| ID: mdl-28633253
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA
/
Prolapso da Valva Mitral
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Aneurisma da Aorta Torácica
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Fator de Crescimento Transformador beta2
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Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article