open access

Vol 13, No 2 (2018)
Cardiac Surgery
Published online: 2018-05-30
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Mitral valve diseases in Marfan’s syndrome

Wiktor Skowron, Aleksandra Majsnerowska, Magdalena Daničić
DOI: 10.5603/FC.2018.0035
·
Folia Cardiologica 2018;13(2):181-187.

open access

Vol 13, No 2 (2018)
Cardiac Surgery
Published online: 2018-05-30

Abstract

Marfan’s syndrome (MFS) is a disease caused by heterozygous mutation in the fibrillin 1 gene. Tissues affected by this mutation show improper transforming growth factor beta (TGF-β) signalling. Fibrillin 1 deficiency and excess activation of TGF-β cause changes in collagen tissue structure, leading to alterations in heart valves architecture. Although precise pathogenetic mechanisms of mitral valve (MV) diseases in MFS remain unclear, recent studies on mice have helped us to understand the mechanisms of phenotype changes occurring in patients with MFS. In this article we present the prevalence of MV pathologies observed in MFS, basic pathogenetic mechanisms of MV dysfunction as well as currently available options for pharmacological and surgical treatment. The article also provides an overview of currently available literature on MFS.

Abstract

Marfan’s syndrome (MFS) is a disease caused by heterozygous mutation in the fibrillin 1 gene. Tissues affected by this mutation show improper transforming growth factor beta (TGF-β) signalling. Fibrillin 1 deficiency and excess activation of TGF-β cause changes in collagen tissue structure, leading to alterations in heart valves architecture. Although precise pathogenetic mechanisms of mitral valve (MV) diseases in MFS remain unclear, recent studies on mice have helped us to understand the mechanisms of phenotype changes occurring in patients with MFS. In this article we present the prevalence of MV pathologies observed in MFS, basic pathogenetic mechanisms of MV dysfunction as well as currently available options for pharmacological and surgical treatment. The article also provides an overview of currently available literature on MFS.
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Keywords

Marfan’s syndrome, mitral valve prolapse, treatment

About this article
Title

Mitral valve diseases in Marfan’s syndrome

Journal

Folia Cardiologica

Issue

Vol 13, No 2 (2018)

Pages

181-187

Published online

2018-05-30

DOI

10.5603/FC.2018.0035

Bibliographic record

Folia Cardiologica 2018;13(2):181-187.

Keywords

Marfan’s syndrome
mitral valve prolapse
treatment

Authors

Wiktor Skowron
Aleksandra Majsnerowska
Magdalena Daničić

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