Update and Diagnoses
Many people like to keep their medical condition to themselves. However, 80 people with Marfan syndrome and their relatives, attended our Family Fun Day in April, which included one hour of presentations on the latest diagnostic approaches and ways to manage Marfan syndrome for children and adults. Here are the highlights from the presentations:
New Growing Rod Implant Improves Skeleton
Surgical management of scoliosis has been seen to improve through the use of a novel magnet driven growing rod (MdGR) implant— dual rod insertion. As the child grows, the orthopaedic surgeon applies a magnet at clinic visit to lengthen the rod, thus avoiding the need for later re-operation.
Non Invasive Suction Helps Chest Deformities
There have been advances in increasing the ability to predict how a patient will be affected by Marfan syndrome, based on the type and location of mutation (gene error) within the fibrillin-1 gene.
Increased Ability to Predict Effects of Marfan Syndrome
There have been advances in increasing the ability to predict how a patient will be affected by Marfan, based on the type and location of mutation (gene error) within the fibrillin-1 gene.
Improved Planning of Unaffected Pregnancies
The family mutation has now been used to help approximately 30 young couples plan an unaffected pregnancy through IVF (in vitro fertilization), and implantation of an unaffected pre-embryo back in the womb.
Rising Life Expectancy for People with Marfan Syndrome
The average life expectancy for a person with Marfan syndrome has risen in the last 30 years from 32 years of age, into the normal life expectancy range (60 – 80) with modern medical and surgical management. The risk of elective aortic root surgery in experienced hands is now very low, between 1-3%.
AIMS Trial Continues to Look at How Best to Prevent Aortic Root Aneurysms
The AIMS trial (Aortic Irbesartan in Marfan Syndrome) is in its last year, and the 192 participating patients are strongly urged to attend this year’s appointment as the echo results will be compared with the initial echocardiogram, to provide the data required to decide whether Irbesartan is better than a beta-blocker in preventing aortic root aneurysms. Trial results will be available in late 2018. After this year’s appointment, the patient, in discussion with the cardiologist, will decide whether to continue taking Irbesartan.