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Marfan syndrome and pregnancy (molecular)

Importance opinion of the doctor

- 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

Content

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

Marfan syndrome and pregnancy (ethical)

Conclusion

Reference sheet

Introduction

- 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

Marfan syndrome and pregnancy

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