Childhood Diseases

Question
Posted by: anon308 | 2013-01-22

Q.

Marfan Syndrome - who knows about it?

Hi

My daughter was clinically diagnosed with Marfan Syndrome at the age of 2 year when we took her for her standard 2 year check up with the paediatrician.

She is 2 year and 4 months now and for the the last four months she has been on Losartan 12.5mg.

A echocardiogram was done and this was the conclusion:

Dilated aortic root
Prolapsing MV and TV leaflets
Moderate MR and Mild TR

Family has no history of symptoms of Marfan Syndrom.

What I would like to know is, we would love to have another child. I planned to go off of contraception end of Aug 2012 but my daughter was diagnosed 2 Sept so we put it on hold.
We have been for counciling. And they explaned to us how she may have gotten it and what the chances will be that our second child may also have it.

But with our families not having history of Marfans we do not know what to do. Do we have another child or don’ t we?

Expert's Reply

A.

Paediatrician

Marfan's syndrome is usually strongly inherited in families. This is known as autosomal dominant inheritance. However in some children with definite Marfan's syndrome there is no positive family history. This usually occurs as the result of a change in one of the gametes leading to the conception of the affected child. Expert genetic information is required before you consider having another child. I see that you have already been for counselling,but you do need to see a paediatric geneticist before making any decisions.

The information provided does not constitute a diagnosis of your condition. You should consult a medical practitioner or other appropriate health care professional for a physical exmanication, diagnosis and formal advice. Health24 and the expert accept no responsibility or liability for any damage or personal harm you may suffer resulting from making use of this content.

1
user comments

C.

Posted by: Racoon | 2013-01-23

I can strongly recommend Prof Greetje de Jong at Stellenbosch University. She is both a geneticist and pediatrician. She is at retirement age, and has been very active in the field of diagnosing syndromes in kids. She is also well-known internationally, and has many colleagues there. You can email her on: gdj@sun.ac.za

She might be able to give you the yes/no answer. If Marfan is detectable by gene analysis, one option would be to have pre-implantation genetic diagnosis done on the embryo. Please Google it for more info. It is available in SA.

Reply to Racoon

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