Pregnancy and Childbirth in Patients With Syndrome-Marfan
Marfan syndrome (MFS) is primarily inherited in an autosomal dominant manner and in some
cases with a recessive manner, which affects one person in every 3000-5000 people in the
general population.
In the majority of patients due to gene mutations on fibrillin-1
[fibrillin-1 gene (FBN1)], located in chromosome 15q-21.1q and comprises 65 exons.
Fibrillin-1 is an extracellular cysteine-rich protein that participates primarily
in manufacturing and maintaining the structure of the microfibrils on the extracellular
matrix of the elastic and non-elastic connective tissue.
Mutations on the fibrillin-1 gene interrupt the normal structure of these micro fibrils
thus inducing abnormal protein structure in which they participate.
This may lead to an infringement of biomechanics (structure that can meet the functional role) connective tissue. The disturbance of homeostasis of connective tissue, for example, in blood vessel walls can cause
strong solution of the connecting elastic fibers after intense expression of metalloproteinases
(such as metalloproteinases -2 and -9) of the matrix, and increasing the hyaluronic acid can lead
to degradation of these elastic fibers and other components of the matrix.
It is also reported to increase the activity of transforming growth factor-β
[transforming growth factor beta (TGF-β)] interactions and loss of cell-matrix (cell-matrix interactions)
In the nervous system, dural ectasia (inflation of the bag of the dura and the vertebral canal together possibly
swelling sheaths spinal nerves) affects the spinal canal in all degrees of the spine, often in the lumbosacral region and
can manifest with headache.
Gynecol Obstet Res Open J. 2017; 4(1): 5-10. doi: 10.17140/GOROJ-4-137
