The niche yet global condition of Marfan entails a niche yet worldwide group of experts, and Dr Child’s reputation stretches across continents.

Q: I am writing as I have been advised to contact you by my cardiologist in Italy. I have the Marfan Syndrome and she has been following my case for many years. I currently live in London and I am 31 weeks pregnant. I would like to ask for your advice in regards to the pregnancy and the Marfan Syndrome.

A: It’s nice to know my good friend, the Italian cardiologist, Professor Eloisa Arbustini, has been caring for you in Italy. She recommended that you sought my opinion here in London.

This is your first pregnancy. You are in good health and not working at the moment. You are living with your husband. Your baby is due on 12 December 2020. You are being very carefully followed by Dr V, and the obstetric clinic. Your blood pressure is 105/66, and your weight 70 kilos, and your height 185 cm. You are generally affected with mutation proven Maran syndrome, having dislocated lenses, mild dilation of the aortic root (4.1cm) and scoliosis for which you have had physiotherapy and exercises. You are the first one in the family. Your mutation report from Italy was reassessed using modern databases, and one probably pathogenic mutation and one possibly pathogenic mutation were reported. Both your parents apparently were negative for the main mutation. There is a 50/50 chance that your baby may be affected, probably mildly to moderately like yourself.

You have been placed on propranolol 10mg (bid) and you are tired, but not dizzy.

You are carefully performing echocardiograms right up to the date of delivery, and there has been no significant change during the pregnancy with maximum aortic diameter in the sinus of valsava of 4.1cm, and no significant valve leakage. This usually means that normal vaginal delivery would be the delivery of choice, but as a precaution, you could labour on your side, and should not have a long second stage. If you were to have epidural, the anaesthetist should be aware that you may have dural ectasia. 

Echocardiography should continue in the immediate postpartum period. I am enclosing one of our pregnancy leaflets for your interest.

We discussed the chance that your baby may be affected. It would be wise to take a cord blood sample and freeze it in the genetic unit, until you decide whether you wish to have the baby tested for your mutation or not. At present, as long as the neonatal echocardiogram and eye examination for dislocated lenses are normal, you are willing to just have the baby followed by the paediatric service at regular intervals for signs of Marfan syndrome. This is for insurance reasons. The baby should not leave hospital until it has a neonatal echocardiogram, because of the small 1% chance of congenital structural heart condition. 

The baby should be delivered in hospital where cardiac surgery is available rapidly. This is purely to cover all possibilities, since it is highly unlikely that you will have any problems.

You are in good hands, and your management plan is optimal. 

P.S. A beautiful baby girl decided to arrive early December in a normal delivery.  Mother and baby are doing well. Mother has been advised to wait a full year before planning a second pregnancy to allow the aortic wall to recover from the first pregnancy.

You can download our pamphlet Pregnancy in Marfan Syndrome Here or by contacting the office on [email protected]

The Marfan Trust is registered in England and Wales under charity number 328070 at Guy Scadding Building, Dovehouse Street, London SW3 6LY. Contact us at [email protected] or by phone on + 44 (0)20 7594 1605
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