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- Mutations FBN1, chromosome 15
- Glycoprotein fibrillin
- Microfibrills
- Substrate elastin (in aorta)
- Physiology pregnancy
- Possible rupture aortic wall
- Consideration pros and cons
- Discourage if
aortic root > 45 mm
previous aortic dessection
Peter H. Byers. Determination of the molecular basis of Marfan syndrome. J Clin Invest. 2004 Jul 15; 114(2): 161–163
Interactive biology. What is Marfan syndrome? AhmedA. Genetics.
http://www.interactive-biology.com/3290/what-is-marfan-syndrome/
Richtlijn Marfan Syndroom. Utrecht: Vereniging Klinische Genetica Nederland; 2013. p. 110.
Cox DA, Ginde S, Kuhlmann RS, Earing MG.Management of the pregnant woman with Marfan syndrome complicated by ascending aorta dilation. Archives of Gynecology and Obstetrics. 2014: 290.
- Introduction
- Marfan syndrome and pregnancy
(molecular)
- Marfan syndrome and pregnancy
(ethical)
- Importance opinion of the doctor
- Conclusion
- Reference sheet
- Research strategy
- Critical appraisal of literature
Pro pregnancy
- Treatment: Beta-blockers
- Monotoring: CT and/or MRI
Against pregnancy
- Risks
Aortic desection (5%), SGA, miscarriage, premature birth (20%),
C-section
Is it dangerous for a woman with the Marfan syndrome to be pregnant regarding the (molecular) changes in the body and how important is the opinion of a doctor in deciding whether to get pregnant or not?
- Yes
- Complications
- Individual advice
- Student meets patient radiology
- Q5 pregnancies and CSI themes
- Marfan syndrome
- Research question:
Is it dangerous for a woman with the Marfan syndrome
to be pregnant regarding the (molecular) changes
in the body and how important is the opinion of a doctor
in deciding whether to get pregnant or not?
1. Marfan Syndrome. PubMed Health Glossary and NIH - National Heart, Lung,
and Blood Institute. Last Update: June 11, 2014. Bethesda, USA.
2. Marfan syndrome. Childrenshospital. U.S.
http://www.childrenshospital.org/conditions-and-treatments/conditions/marfan-syndrome
3. Peter H. Byers. Determination of the molecular basis of Marfan syndrome. J Clin Invest.
2004 Jul 15; 114(2): 161–163
4. Interactive biology. What is Marfan syndrome? AhmedA. Genetics.
http://www.interactive-biology.com/3290/what-is-marfan-syndrome/
5. Hassan N, Patenaude V, Oddy L, Abenhaim HA. Pregnancy outcomes in Marfan syndrome:
a retrospective cohort study. AJP Rep. 2015 Feb;30(2):123-30. doi: 10.1055/s-0034-1376179.
6. Pacini L1, Digne F, Boumendil A, Muti C, Detaint D, Boileau C, Jondeau G. Maternal
complication of pregnancy in Marfan syndrome.Int J Cardiol. 2009 Aug 14;136(2):156-61. doi: 10.1016/j.ijcard.2008.04.035.
7. Katsuragi S1, Ueda K, Yamanaka K, Neki R, Kamiya C, Sasaki Y, et al. Pregnancy-associated
aortic dilatation or dissection in Japanese women with Marfan syndrome. Circ J.2011;75(11):
2545-51.
8. Richtlijn Marfan Syndroom. Utrecht: Vereniging Klinische Genetica Nederland; 2013. p. 110.
9. van Hagen I.M., Roos-Hesselink J.W. Aorta pathology and pregnancy. Best Practice and
Research Clinical Obstetrics and Gynaecology. 2014: 28.
10. Cox DA, Ginde S, Kuhlmann RS, Earing MG.Management of the pregnant woman with
Marfan syndrome complicated by ascending aorta dilation. Archives of Gynecology and
Obstetrics. 2014: 290.
van Hagen I.M., Roos-Hesselink J.W. Aorta pathology and pregnancy. Best Practice and
Research Clinical Obstetrics and Gynaecology. 2014: 28.
Cox DA, Ginde S, Kuhlmann RS, Earing MG.Management of the pregnant woman with
Marfan syndrome complicated by ascending aorta dilation. Archives of Gynecology and
Obstetrics. 2014: 290.
Hassan N, Patenaude V, Oddy L, Abenhaim HA. Pregnancy outcomes in Marfan syndrome: a retrospective cohort study. AJP Rep. 2015 Feb;30(2):123-30. doi: 10.1055/s-0034-1376179.
Pacini L1, Digne F, Boumendil A, Muti C, Detaint D, Boileau C, Jondeau G. Maternal complication of pregnancy in Marfan syndrome.Int J Cardiol. 2009 Aug 14;136(2):156-61. doi: 10.1016/j.ijcard.2008.04.035.
Katsuragi S1, Ueda K, Yamanaka K, Neki R, Kamiya C, Sasaki Y, et al. Pregnancy-associated aortic dilatation or dissection in Japanese women with Marfan syndrome. Circ J. 2011;75(11):2545-51.
Marfan Syndrome. PubMed Health Glossary and NIH - National Heart, Lung,
and Blood Institute. Last Update: June 11, 2014. Bethesda, USA.
Marfan syndrome. Childrenshospital. U.S.
http://www.childrenshospital.org/conditions-and-treatments/conditions/marfan-syndrome