Keutamaan Organ 器官优先权

The logic would be which organs are 

• most affected by tissue elasticity weakness

• only of 1 in number e.g. Heart, Backbone compared to multiple in number e.g. Lungs, Eyes

In our experience with doctors, here is a recommendation, with the highest priority organs listed first, then next highest, and so on:

Before puberty (children)

• Heart. To prevent/slow down vessel dilation. Regular heart echocardiogram to measure aortic root diameter and medication like Losartan as advised by doctors is the standard of care for management. 

• Bones, especially scoliosis on the spine. The spine is the supporting bone for most of the body and affects strength of legs too. Scoliosis usually treated with body bracing. It is most effective if brace can be worn for as many hours a day as possible. Also physiotherapy done together with body bracing can have better results than bracing alone. 

• Jaw and teeth. Narrow jaw may cause crowded teeth and breathing difficulty for sleep. Good sleeping is important for children.

• Eyes. Be gentle when rubbing eyes and prevent contact sports that may dislocate lens. 

• Lungs. Usually a Respiratory Function Test (RFT) is required by doctors. The test procedure of breathing in, out and holding may be difficult for young children to perform. This may not be successful and may need to be repeated.

During/after puberty, adulthood

• Heart. For blood vessel dissection (rupture), symptoms may look like heart attack but must be treated differently. This is a very critical information for emergency treatments. Any aneurysm (swelling) is also a risk for future ruptures and may need close management. 

Usually this is monitored by doing measurements on the heart and major blood vessels via echocardiogram and/or CT Angiogram. If aortic root or valves require intervention, surgery e.g. Bentall procedure may be recommended.

If valves are replaced, artificial mechanical valve may be recommended by the surgeon. Do take note, there is an audible tick sound and lifetime blood thinner medication is required when mechanical valves are selected.

• Lungs. Spontaneous pneumothorax, which is lung tear and collapse may occur and treated with chest tube and surgery. 

  • Video Assisted Thoracoscopic Surgery (VATS) may be prescribed, which is a minimally invasive surgery to find tears and close them. Take note that because this uses a small video camera, it may not be able to see the lung completely.

  • Alternative surgery would be to cut between the ribs and spreading  the incision. This allows for better view of the lung. 

Tears often form at bullae (air sacs). Marfan patients sometimes have large bullae. Surgery may stapling or ligation (tying off) the bullae to stop leaks. As Marfan patients typically have more fragile than normal tissue at bullae, ligation may produce better results and staples are metal material which may rub against other lung tissue and cause damage. 

• Eyes. Retinal detachment and lens dislocation is a risk increases with age and surgery may be required. 

• Bones. At adult stage, bones are unlikely to change shape and form. Scoliosis may be present in the body, but the patient would have adapted to daily living by then and maybe only observation is required.