What can one expect when one’s partner is expecting? A text-book pregnancy? A baby born safe and sound? In pregnancy the medical emphasis falls logically on the woman carrying the child. But what of the partner who is just as emotionally involved and worries he will not live long enough to see his baby grow and flourish. A young father-to-be with Marfan Syndrome wrote recently from overseas, fearful his potentially expanding aorta will tear and deprive him from being father to his child, and deprive his child of a father. Searches on the internet have not helped his state of mind. 

Q: I am in my twenties and have Marfan syndrome. My aortic root measures 4.2 cm on CT angiography. I have moderate aortic regurgitation and ectopia lentis since birth. I wasn't diagnosed with dilated aortic root until a few years ago. At that time, my aortic root (sinus of valsava) was 4.2 cm and had mild aortic regurgitation. Since then I have been regularly using beta blocker, angiotensin receptor blocker (ARB), and anti-depressant. My aortic root during CT angiography performed two years ago and echocardiography performed 3 months ago was 4.2, meaning there has been no or minimum change (diameter fluctuates between 3.9 and 4.2 but not greater) in dimensions of aortic root. Is it possible that the aortic root size doesn't increase for a longer period of time? Data on the internet shows otherwise. I am married and am expecting a baby as well. I am extremely tense regarding my future.

A: On average, in Marfan syndrome, the aorta enlarges slowly at about 1 mm per year. It is important to have your echocardiogram in the same Cardiology Unit each year so the comparisons are accurate.

We cannot predict the rate of growth, unless there are others affected in the same family. The family tendency is a strong indication.

But we have guidelines. Medication up to measurement 4.5 cm is sufficient. Then a surgeon should be sought. The new exostent operation can be offered from 4,2 cm, and the open-heart Dacron graft operation from 4.5 cm. Both have the same mortality rate of 1 percent in experienced hands.

This condition is now treatable. I would plan your life as you would wish it, and think of having Marfan syndrome as a secondary factor.

Do make sure you have a genetic test. This will discover your gene mutation which can be used to test the baby at birth. The baby does have a 50/50 chance of inheriting Marfan syndrome, in which case it should be moderately affected like yourself. When your baby is born, make sure the hospital do a heart check (echocardiogram) and eye check (for dislocated lenses) before the baby goes home.

I hope this is helpful. 

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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