Marfan Syndrome – Symptoms and Causes
Overview
Marfan syndrome is a genetic condition that affects the body’s connective tissue. These essential fibers provide support for organs and bodily structures. This inherited disorder typically affects four main areas of the body:
- Heart
- Eyes
- Blood vessels
- Skeleton
People with this condition often have distinctive physical traits. They tend to be tall with a slender build and notably elongated arms, legs, fingers, and toes. The severity of Marfan syndrome varies widely among individuals.
The most serious complication involves the aorta, the main blood vessel carrying blood from the heart throughout the body. When the aorta is affected, the condition can become dangerous.
Treatment strategies typically include:
- Medications to lower blood pressure and reduce strain on the aorta
- Regular medical monitoring to track any progression
- Preventive surgery to repair the aorta, which many patients eventually need
Signs and Symptoms
People with Marfan syndrome show many different physical traits. The condition affects various body parts, and symptoms can be mild or severe, even within the same family.
Common features include:
- Tall, thin body shape
- Unusually long arms, legs, and fingers
- Chest that either sticks out or curves inward
- High roof of mouth and crowded teeth
- Heart sounds (murmurs)
- Severe nearsightedness
- Curved spine (scoliosis)
- Flat feet
When to Contact a Healthcare Provider
Speak with your doctor if you suspect you or your child might have Marfan syndrome. Early detection is important for proper management of this condition.
Your doctor will probably refer you to specialists for a thorough evaluation and diagnosis of the affected body systems.
Causes
Marfan syndrome stems from a genetic defect that affects the body’s ability to produce a specific protein. This protein gives connective tissue its strength and flexibility.
Most individuals with Marfan syndrome inherit the condition from a parent who already has the disorder. When a parent has Marfan syndrome, each of their children faces a 50% chance of inheriting the defective gene.
In about 25% of cases, neither parent has the condition. Instead, a new mutation develops spontaneously in the gene. This means someone can develop Marfan syndrome even with no family history of the disorder.
Risk Factors
Marfan syndrome appears equally in both males and females across all racial and ethnic groups. The main risk factor is genetic inheritance.
Having a parent with Marfan syndrome significantly increases a person’s chances of developing the condition. Because Marfan syndrome is passed through families, understanding your family’s medical history is important for risk assessment.
Health Risks
Heart and Blood Vessel Issues
People with Marfan syndrome face serious risks to their hearts and blood vessels. The weakened connective tissue can affect the aorta, which is the main blood vessel carrying blood from the heart.
- Aortic Bulging: Blood pressure can cause a weak spot in the aorta to bulge outward. This typically happens at the aortic root where the artery connects to the heart.
- Aortic Tearing: The aorta’s wall has multiple layers. A small tear in the inner layer can let blood flow between the layers. This causes severe chest or back pain and weakens the vessel. If the aorta ruptures, it can be fatal.
- Heart Valve Problems: Weak tissue in heart valves can cause stretching and poor function. When valves don’t work correctly, the heart works harder to pump blood. This extra strain can lead to heart failure over time.
Vision Problems
Marfan syndrome can affect vision in several ways:
- Shifted Lens: The eye’s lens may move out of position when its supporting structures weaken. Doctors call this ectopia lentis, and it happens in more than half of people with Marfan syndrome.
- Retinal Issues: Individuals with this condition are at an increased risk of retinal tears or detachment in the light-sensitive tissue at the back of the eye.
- Early Eye Conditions: Glaucoma and cataracts often develop at younger ages in people with Marfan syndrome.
- Glaucoma increases pressure in the eye, damaging the optic nerve
- Cataracts create cloudy areas in the normally clear lens
Bone and Joint Complications
Marfan syndrome can affect the skeleton in several ways:
- Abnormal spine curves (scoliosis)
- Chest deformities where the breastbone either sticks out or sinks in
- Foot pain
- Lower back pain
These skeletal issues may require medical attention and sometimes physical therapy.
Pregnancy Risks
Pregnancy creates special concerns for women with Marfan syndrome. During pregnancy:
- The heart pumps more blood than usual.
- Extra blood flow puts additional stress on the aorta.
- This increased pressure raises the risk of aortic dissection or rupture.
Women with Marfan syndrome need careful monitoring throughout pregnancy. They should see specialists who understand these risks.
