Marfan Syndrome-Cannabinoids Relieve Symptoms

Marfan Syndrome


Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue.  People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers. It is inherited as a dominant trait.  It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1.   People have a pair of FBN1 genes.  Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's.

Marfan syndrome has a range of expressions, from mild to severe.  The most serious complications are defects of the heart valves and aorta.  I t may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.  In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β).   TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the extracellular matrix. Researchers now believe that secondary to mutated fibrillin there is excessive TGF-β at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.   Since angiotensin II receptor blockers (ARBs) also reduce TGF-β, they have tested this by giving ARBs (losartan, etc.) to a small sample of young, severely affected Marfan syndrome patients.  In some patients, the growth of the aorta was indeed reduced. Marfan syndrome is named after Antoine Marfan,  the French pediatrician who first described the condition in 1896.   The gene linked to the disease was first identified by Francesco Ramirez in 1991

Causes, incidence, and risk factors:

Marfan syndrome is caused by defects in a gene called fibrillin-1.  Fibrillin-1 plays an important role as the building block for elastic tissue in the body.

The gene defect also causes too much growth of the long bones of the body.  This causes the tall height and long arms and legs seen in people with this syndrome.  How this overgrowth happens is not well understood.

Other areas of the body that are affected include:

Lung tissue

The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)

The eyes, causing cataracts and other problems

The skin Tissue covering the spinal cord

In most cases, Marfan syndrome is inherited, which means it is passed down through families.  However, up to 30% of cases have no family history.  Such cases are called "sporadic."  In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect.

Although there are some unique signs or symptoms of Marfan syndrome, the constellation of long limbs, the dislocated lenses and the aortic root dilation are generally sufficient to make the diagnosis with reasonable confidence.  There are more than 30 other clinical features that are variably associated with the syndrome, most involving the skeleton, skin, and joints.  There may be considerable clinical variability within families that carry the identical mutation.


People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers a condition called arachnodactyly.  When they stretch out their arms, the length of their arms is much greater than their height.

Other symptoms include:

  • A chest that sinks in or sticks out funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
  • Flat feet
  • Highly arched palate and crowded teeth
  • Hypotonia
  • Joints that are too flexible
  • Learning disability
  • Movement of the lens of the eye from its normal position (dislocation)
  • Nearsightedness
  • Small lower jaw (micrognathia)
  • Spine that curves to one side (scoliosis)
  • Thin, narrow face

Most of the readily visible signs are associated with the skeletal system.  Many individuals with Marfan syndrome grow to above average height.  Some have long slender limbs with long fingers and toes (arachnodactyly).  This condition of elongated limbs is known as dolichostenomelia.  An individual's arms may be disproportionately long, with thin, weak wrists.  In addition to affecting height and limb proportions, Marfan syndrome can produce other skeletal anomalies.  Abnormal curvature of the spine (scoliosis) is not uncommon.  Abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum.  Other signs include abnormal joint flexibility, a high palate, malocclusions, flat feet, hammer toes, stooped shoulders, unexplained stretch marks on the skin.  It can also cause pain in the joints, bones and muscles in some patients. Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws. Early osteoarthritis may occur.

Lens dislocation in Marfan's syndrome;  the lens was kidney-shaped and was resting against the ciliary body.

Marfan syndrome can also seriously affect the eyes and vision.  Nearsightedness and astigmatism are common, but farsightedness can also result.  Subluxation (dislocation) of the crystalline lens in one or both eyes (ectopia lentis) (in 80% of patients) also occurs and may be detected by an ophthalmologist or optometrist using a slit-lamp biomicroscope.  In Marfan's the dislocation is typically superotemporal whereas in the similar condition homocystinuria, the dislocation is inferonasal.  Sometimes eye problems appear only after the weakening of connective tissue has caused detachment of the retina.  Early onset glaucoma can be another related problem.

Cardiovascular system

The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system. Undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or Angina pectoris with pain radiating to the back, shoulder, or arm.  Cold arms, hands and feet can also be linked to Marfan's syndrome because of inadequate circulation.  A heart murmur, abnormal reading on an EKG, or symptoms of angina can indicate further investigation.  The signs of regurgitation  from prolapse of the mitral or aortic valves (which control the flow of blood through the heart) result from cystic medial degeneration of the valves, which is commonly associated with Marfan's syndrome (see mitral valve prolapse, aortic regurgitation). However, the major sign that would lead a doctor to consider an underlying condition is a dilated aorta or an aortic aneurysm.  Sometimes, no heart problems are apparent until the weakening of the connective tissue (cystic medial degeneration) in the ascending aorta causes an aortic aneurysm or aortic dissection, a surgical emergency.  An aortic dissection is most often fatal and presents with pain radiating down the back, giving a tearing sensation.

Because of the underlying connective tissue abnormalities that cause Marfan syndrome, there is an increased incidence of dehiscence of prosthetic mitral valve.  Care should be taken to attempt repair of damaged heart valves rather than replacement.

During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of aortic dissection, which is often fatal even when rapidly treated.  For this reason, women with Marfan syndrome should receive a thorough assessment prior to conception, and echocardiography should be performed every six to ten weeks during pregnancy, to assess the aortic root diameter.  For most women, safe vaginal delivery is possible.

Marfan syndrome has often been confused with Loeys-Dietz syndrome, because of the considerable clinical overlap between the two syndromes.

Complications may include:

  • Aortic regurgitation
  • Aortic rupture
  • Bacterial endocarditis
  • Dissecting aortic aneurysm
  • Enlargement of the base of the aorta
  • Heart failure
  • Mitral valve prolapse
  • Scoliosis
  • Vision problems

There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades, and clinical trials are underway for a promising new treatment.   The syndrome is only treated at present by simply addressing each issue as it arises and, in particular, considering preventive medication, even for young children, to slow progression of aortic dilation if such exists.

Expectations (prognosis)

Heart-related complications may shorten the lifespan of people with this disease.  However, many patients survive well into their sixties. Good care and surgery may extend the lifespan further.


Vision problems should be treated when possible.
Take care to monitor for scoliosis, especially during adolescence.
Medicine to slow the heart rate may help prevent stress on the aorta.  Avoid participating in competitive athletics and contact sports to avoid injuring the heart.  Some people may need surgical replacement of the aortic root and valve.
People with Marfan syndrome should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress  on the heart and aorta.

Cannabinoids Treat Marfan Symptoms:

Cannabinoids help regulate blood pressure
Cannabinoids relieve pain in joints, bones and muscles (anti-inflammatory)
Cannabinoidsd relieve osteoarthritis (anti-inflammatory)
Cannabinoids relieve ocular eye pressure
Cannabinoids help with circulation problems (vasodilator)
Cannabinoids help with painful scoliosis (analgesic)

Cannabinoids are anti-bacterial, anti-fungal, and anti-viral

Best Strains:  OG Kush, Trainwreck, Aurora, ChemDawg, M49, Master Kush, Bubba Kush, White Widow, White Rhino, Medicine Man, Headband, Banana Kush. (Indica hybrids)
Indica hybrid made into an extract.  Use (canola, olive) oil, heat (not too hot), filter and decant into a dark colored container.  Take orally four times a day.


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See also:
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