We contact you to propose you your participation in a pilot study, which would be carried out in the University Hospital of Ramón y Cajal in Madid, with the aim to elucidate if there exist certain conditions in Noonan Syndrome patients which could impact upon their clinicl management.
Last year, two identical twin-sisters patients diagnosed as to be affected of NS, had problems during administration of anaesthetic. Anaesthesiologists, then, thought those problems were due to their heart condition (aortic valve stenosis), but, to date, cardiologists still ignore why their heart reacted in that unespected way under that circumstance of anaesthetic administration.
On the basis of the huge clinical variability associated to this genetic condition, our aim is to collect as much data as posible among those people affected of any kind of rasopathy whatever the affected gen is.
In order to participate, you only have to complete the attached form, which is absolutely anonymous.
The more participants the more chance to obtain statistically significant data.
From here, we encourage you to participate.
Yours sincerely,
Dr. Manuela Villamar López
Genetist at Molecular Genetics Department at
Universitary Hospital Ramón y Cajal in Madrid
If you want further information about this pilot study, please contact noonanrasfederacion@gmail.com