In class I read a case study about a woman with a mutation in her ACTA2 gene. Mutations in the ACTA2 gene usually cause problems with vascular smooth muscle function that causes thoracic aortic aneurysms, coronary artery disease, Multisystem Smooth Muscle Dysfunction Syndrome and Moyamoya Disease. In this particular case, a young pregnant woman with this mutation had uterine muscle dysfunction and had complications during child birth. She also hemorrhaged during delivery. She required a caesarian section, uterotonic antibiotics and a blood transfusion. She was able to recover with the doctors’ help. However, the doctors learned that obstetricians need to be more aware of the ACTA2 gene mutation in pregnant women. That way, women with this gene can have a smooth delivery with minor or no complications.
Reading this case study enlightened me on the different complications that can occur during delivery. As a physician assistant, I am going to keep this in mind. It amazes me all the things that can go wrong in pregnancy, and it makes me wonder how any of us come out okay. As a physician assistant, I think it would be cool to get the chance to deliver a child. It also scares me though, because you make or break someone’s life every day. It would be a lot of pressure to have to deliver a child and make sure the child and baby are okay. When I was little, all I wanted was to be a baby doctor. Even though my aspirations have moved toward orthopedics, I still would like to do some rotations in pediatrics and obstetrics. I think it’s important to understand different gene mutations and how they can affect the entire body systemically. I think more research needs to be done on this mutation, and women should be tested before child birth to determine if they have this mutation.
Citation:
Cooper, K., & Brown, S. (2017). ACTA2 mutation and postpartum hemorrhage: a case report. BMC Medical Genetics,18(1). doi:10.1186/s12881-017-0505-5
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