Conner's Marfan Syndrome
Support Group Where
Kids Support Kids

• Mitral Valve Prolapse
• Mitral regurgitation
• Dilation of the aortic root
• Aortic Valve Regurgitation
  A murmur of aortic regurgitation, a diastolic murmur indicating a leaking aortic valve
• Aneurysm of the aorta and Aortic dissection

• Detailed medical and family history.
• A complete physical examination, including a careful musculo-skeletal and skin examination.

• Echocardiogram, looking for involvement of the cardiovascular system that is often not evident from the physical examination.
• Eye slit lamp examination by an ophthalmologist, to determine if there is any lens dislocation.

• Scoliosis of the Vertebral column (marked curvature of the spine)

• Dislocated Lens
  (The muscles of the eye become weak causing the lens to sink backwards)

• Myopia
• Corneal Flatness
• Subluxation of the Lenses

• Striae Distensae
• Spinal Arachoid Cysts
• Widening of the Lumbosaral Spinal Canal
• Intracranial Aneurysm
• Pneumothorax
• Sleep Apnea (probably due to disformed palate)
• Cathedral Palate (narrow high arched palate with crowded teeth)

A few definitions may help:

Autosome: A chromosome that is not a sex chromosome and therefore carries genetic information that determines body characteristics other than sex organs.

Chromosome: A threadlike linear strand of DNA in the nucleus of the body cells that carries the genes, which carry hereditary information.

Gene: A small piece of the chromosome that determines a particular characteristic such as blue eyes or red hair. (From Greek genos means offspring.)

Dominant: Surpasses the effect of the other gene.

For every characteristic in our body we inherit a gene from each parent. For example, a child may inherit a gene from his mother for blue eyes, and a gene from his father for black eyes. His eyes will be black because the gene coding for black eyes dominates the gene for blue eyes. The Gene for blue eyes is therefore submissive or recessive and the gene for black eyes is dominant.

The inherence of Marfan is also characterized by complete non- peneterance, which means that the individual may not inherit all the features, and the features that are inherited will vary in severity between even the same family members. So if the child has a Marfan gene from one parent, he will develop Marfan syndrome even if the gene from the other parent is normal.

As you can see in the diagram above, the wall of the Aorta consists of three layers; the Intima, the Media, and the Adventia.

An aortic dissection is a tear in the inner layer of the aortic wall. Take a look at the slide show animation below for an illustration of aortic dissection.

The tear in the wall allows blood to enter and separate the inner and outer layers of the aorta. As the blood gets trapped between the two layers, this weakens the outer wall, stretching it out to the degree that it looks like a balloon (aneurysm), which may rupture.

Sometimes however the blood, which is now trapped between the aortic layer, may move and compress on vital arteries, which happen to originate from the aorta close to that area. If the coronary arteries are compressed this cuts off the blood supply to the heart muscle and cause a heart attack (myocardial infarction).

If the arteries to brain are compressed this will diminish the blood flow to the brain, resulting in loosing consciousness and having a brain attack (stroke), compressing the kidney arteries will result in the death of kidney cells (kidney failure). and so on.

Weakness of the aortic wall will also distort the support that it provides to the aortic valve, it is like forcing apart the walls which support the frame of a double door, as you can imagine the door sides will separate away and result in a big gap.

In the case of the of the aortic valve, this results in a huge blood leak backwards (insufficiency or regurgitation), because of this tremendous back flow leak to the heart, the heart muscle will not be able to generate enough force to handle such a sudden change.

The heart will then swell (large heart) and lose its ability to push the blood forward to the body (Congestive heart failure). This is also very important because most Aortic Dissections in Marfan Syndrome occur in the aortic wall just above the aortic valve.

Aortic Dissection is the primary cause of death in individuals
with the Marfan syndrome.

• Severe chest pains (front, back or both)
• Looking pale due to internal blood loss
• Weakness and paralysis

• Fainting
• Severe sudden abdominal pains
• Fever

• Family history of aortic dissections or sudden death due to Marfan.

• An aorta of 5-6 cm (Dilated aortic root), as the aortic wall has been thinned and stretched, and is at risk for further dilation and rupture.

The most important part of this condition is to watch the aortic root dilation. There are normal measurements for the aortic root at every age and size and the doctors will be monitoring how wide the root of the aortic is (how dialated it is) at almost every 6 months to one year they may want to do an ultrasound to determine the extent of that dialation.

Should the width reach a size above 5 centimeters (the normal size is 2.5 centimeters or 1 inch in an adult) the doctors may recommend replacing the root of the aorta.

Indications for Surgery

• Thoracic aorta dilated
  to 5-6 cm.
• Severe aortic regurgitation

Indications for Surgery

• Family history of aortic dissection
• The need for other major surgery

Emergency Surgery Indicated

• Proximal dissection (large dissection that begins near the heart)
• Or the tear is very extensive and they continue to have pain even after the blood pressure has been brought down to a low level
• Surgery would be considered if the tear in the descending aorta seems to stabilize, but then grows progressively
• Organ ischemia (kidneys, bowel, and spinal cord) will also require urgent surgery.
• Evidence of fluid in the pericardial sac around the heart with a dissection that comes back to the heart, which suggests that, the tear is going into the pericardial space.

Emergency Surgery Indicated

• Evidence of marked enlargement of the dissected aorta (aneurysm formation).
• Evidence of blood leakage into tissue by contrast CT scan or transesophogeal echocardiogram.
• Evidence that blood flow to one or more vital organs is being compromised.
• Evidence of an intramural hematoma, a localized collection of blood within the aortic wall that can accumulate before the dissection progresses along the length of the aorta. Intramural hematomas indicate an impending dissection, and should be treated in an identical manner.