carpal tunnel syndrome

What is carpal tunnel syndrome?

Carpus is a word derived from the Greek word karpos, which means "wrist." The wrist is surrounded by a band of fibrous tissue that normally functions as a support for the joint. The tight space between this fibrous band and the wrist bone is called the carpal tunnel. The median nerve passes through the carpal tunnel to receive sensations from the thumb, index, and middle fingers of the hand. Any condition that causes swelling or a change in position of the tissue within the carpal tunnel can squeeze and irritate the median nerve. Irritation of the median nerve in this manner causes tingling and numbness of the thumb, index, and the middle fingers -- a condition known as "carpal tunnel syndrome."

Causes

Carpal tunnel syndrome occurs as a result of compression of the median nerve. The median nerve runs from your forearm through a passageway in your wrist (carpal tunnel) to your hand. It provides sensation to the palm side of your thumb and fingers, with the exception of your little finger. It also provides nerve signals to move the muscles around the base of your thumb (motor function).

In general, anything that crowds, irritates or compresses the median nerve in the carpal tunnel space can lead to carpal tunnel syndrome. For example, a wrist fracture can narrow the carpal tunnel and irritate the nerve, as can the swelling and inflammation resulting from rheumatoid arthritis.

In many cases, no single cause can be identified. It may be that a combination of risk factors contributes to the development of the condition.

Tests and diagnosis

Your doctor may conduct one or more of the following tests to determine whether you have carpal tunnel syndrome:

• History of symptoms. The pattern of your signs and symptoms may offer clues to their cause. For example, since the median nerve doesn't provide sensation to your little finger, symptoms in that finger may indicate a problem other than carpal tunnel syndrome. Another clue is the timing of the symptoms. Typical times when you might experience symptoms due to carpal tunnel syndrome include while holding a phone or a newspaper, gripping a steering wheel, or waking up during the night.
• Physical exam. Your doctor will want to test the feeling in your fingers and the strength of the muscles in your hand, because these can be affected by carpal tunnel syndrome. Pressure on the median nerve at the wrist, produced by bending the wrist, tapping on the nerve or simply pressing on the nerve, can bring on the symptoms in many people.
• X-ray. Some doctors may recommend an X-ray of the affected wrist to exclude other causes of wrist pain, such as arthritis or a fracture.
• Electromyogram. Electromyography measures the tiny electrical discharges produced in muscles. A thin-needle electrode is inserted into the muscles your doctor wants to study. An instrument records the electrical activity in your muscle at rest and as you contract the muscle. This test can help determine if muscle damage has occurred.
• Nerve conduction study. In a variation of electromyography, two electrodes are taped to your skin. A small shock is passed through the median nerve to see if electrical impulses are slowed in the carpal tunnel.

The electromyogram and nerve conduction study tests are also useful in checking for other conditions that might mimic carpal tunnel syndrome, such as a pinched nerve in your neck.

Your doctor may recommend that you see a rheumatologist, neurologist, hand surgeon or neurosurgeon if your signs or symptoms indicate other medical disorders or a need for specialized treatment.

Treatments and drugs

Some people with mild symptoms of carpal tunnel syndrome can ease their discomfort by taking more-frequent breaks to rest their hands and applying cold packs to reduce occasional swelling. If these techniques don't offer relief within a few weeks, additional treatment options include wrist splinting, medications and surgery. Splinting and other conservative treatments are more likely to help you if you've had only mild to moderate symptoms for less than 10 months.

Nonsurgical therapy
If the condition is diagnosed early, nonsurgical methods may help improve carpal tunnel syndrome. Methods may include:

• Wrist splinting. A splint that holds your wrist still while you sleep can help relieve nighttime symptoms of tingling and numbness. Nocturnal splinting may be a good option if you are pregnant and have carpal tunnel syndrome.
• Nonsteroidal anti-inflammatory drugs (NSAIDs). NSAIDs may help relieve pain from carpal tunnel syndrome in the short term. There's no evidence, though, that these drugs can actually improve the carpal tunnel syndrome itself.
• Corticosteroids. Your doctor may inject your carpal tunnel with a corticosteroid, such as cortisone, to relieve your pain. Corticosteroids decrease inflammation and swelling, which relieves pressure on the median nerve. Oral corticosteroids aren't considered as effective as corticosteroid injections for treating carpal tunnel syndrome.

If carpal tunnel syndrome results from an inflammatory arthritis, such as rheumatoid arthritis, then treating the underlying condition may reduce symptoms of carpal tunnel syndrome, but this hasn't been proved.

Surgery
If your symptoms are severe or persist after trying nonsurgical therapy, surgery may be the best option.

The goal of carpal tunnel surgery is to relieve pressure on your median nerve by cutting the ligament pressing on the nerve. During the healing process after the surgery, the ligament tissues gradually grow back together while allowing more room for the nerve than existed before. The surgery may be done a couple of different ways. Either technique has risks and benefits that are important to discuss with your surgeon before surgery.

• Endoscopic surgery. Carpal tunnel surgery can be done using an endoscope, a telescope-like device with a tiny camera attached to it that allows your doctor to see inside your carpal tunnel and perform the surgery through small incisions in your hand or wrist.
• Open surgery. In other cases, surgery involves making a larger incision in the palm of your hand over the carpal tunnel and cutting through the ligament to free the nerve.

In general, your doctor will encourage you to use your hand after surgery, gradually working back to normal use of your hand while avoiding forceful hand motions or extreme positions of your wrist. Soreness or weakness may take from several weeks to as long as a few months to resolve after surgery. If your symptoms were very severe before surgery, symptoms may not go away completely after surgery.

Rheumatic fever

Rheumatic fever is an inflammatory disease that may develop after an infection with Streptococcus bacteria (such as strep throat or scarlet fever). The disease can affect the heart, joints, skin, and brain.

Causes

Rheumatic fever is common worldwide and is responsible for many cases of damaged heart valves. It is not common in the United States, and usually occurs in isolated outbreaks. The latest outbreak was in the 1980s.

Rheumatic fever mainly affects children ages 6 -15, and occurs approximately 20 days after strep throat or scarlet fever.

Symptoms

• Abdominal pain
• Fever
• Heart (cardiac) problems, which may not have symptoms, or may result in shortness of breath and chest pain
• Joint pain, arthritis (mainly in the knees, elbows, ankles, and wrists)
• Joint swelling; redness or warmth
• Nosebleeds (epistaxis)
• Skin nodules
• Skin rash (erythema marginatum)
  • Skin eruption on the trunk and upper part of the arms or legs
  • Eruptions that look ring-shaped or snake-like
• Sydenham chorea (emotional instability, muscle weakness and quick, uncoordinated jerky movements that mainly affect the face, feet, and hands)

Exams and Tests

Because this disease has different forms, no one test can firmly diagnose it. Your doctor will perform a careful exam, which includes checking your heart sounds, skin, and joints.

Tests may include:

• Blood test for recurrent strep infection (such as an ASO test)
• Complete blood count
• Electrocardiogram
• Sedimentation rate (ESR)

Several major and minor criteria have been developed to help standardize rheumatic fever diagnosis. Meeting these criteria, as well as having evidence of a recent streptococcal infection, can help confirm that you have rheumatic fever.

The major criteria for diagnosis include:

• Arthritis in several joints (polyarthritis)
• Heart inflammation (carditis)
• Nodules under the skin (subcutaneous skin nodules)
• Rapid, jerky movements (chorea, Sydenham chorea)
• Skin rash (erythema marginatum)

The minor criteria include:

• Fever
• High ESR
• Joint pain
• Other laboratory findings

You'll likely be diagnosed with rheumatic fever if you meet two major criteria, or one major and two minor criteria, and have signs that you've had a previous strep infection.

Treatment of Rheumatic Fever

There is no actual cure for rheumatic fever but medication can be provided to alleviate the pain caused by some of the symptoms. Recurrent occurrence of the streptococcal infection can be prevented by administering penicillin to the patient. Aspirin is usually given to reduce fever and sometimes, corticosteroids are given to the patient to combat joint pain and swelling.

Administering low doses of antibiotics such as penicillin, erythromycin or sulfadiazine over a long-term period will help in preventing strep throat from occurring again.

Bed rest will be recommended for some patients in order to give the body some time to heal. Intake of fluids should be increased and the patient should have at least 6-8 glasses of water per day.

Complications of Rheumatic Fever

Depending on the severity of the initial attack of the disease, some patients may develop the following complications:

• Heart inflammation: inflammation of the muscle or lining of the heart
• Rheumatic Heart Disease: problems causes in the condition of the heart due to previous episode of rheumatic fever
• Sydenham Chorea: involuntary / spasmodic movements of the body
• Arrhythmias: heart rhythm disorder
• Endocarditis: deals with abnormalities caused to the endocardium (innermost tissues that lines the heart’s chambers) – inflammation of the heart valves or the lining of its chambers can be caused due to rheumatic fever
• Congestive heart failure: a very serious condition where the heart is unable to pump sufficient blood to the rest of the body
• Pericarditis: inflammation of the pericardium or the sac-like covering of the heart

Prevention of Rheumatic Fever

Physicians do not know how to reduce the pace of the damage caused to heart valves due to rheumatic fever. Therefore, it is best to nip this problem in the bud and promptly treat diseases caused due to streptococcal infections with the timely intake of antibiotics.

Pericarditis - constrictive

Constrictive pericarditis is long-term (chronic) inflammation of the sac-like covering of the heart (the pericardium) with thickening, scarring, and muscle tightening (contracture).

See also:

• Bacterial pericarditis
• Pericarditis
• Pericarditis after heart attack

Causes

Constrictive pericarditis is most commonly caused by conditions or events that cause inflammation to develop around the heart, including:

• Heart surgery
• Radiation therapy to the chest
• Tuberculosis

Less common causes include:

• Abnormal fluid buildup in the covering of the heart due to bacterial or viral infection or surgical complications
• Mesothelioma

Constrictive pericarditis may also develop without apparent cause.

The inflammation causes the covering of the heart to become thick and rigid, making it hard for the heart to stretch properly when it beats. As a result, the heart chambers don't fill up with enough blood. Blood backs up behind the heart, causing heart swelling and other symptoms of heart failure.

The condition is relatively rare in children.

Symptoms

Symptoms of chronic constrictive pericarditis include:

• Difficulty breathing (dyspnea) that develops slowly and gets worse
• Fatigue, excessive tiredness
• Long-term swelling (edema) of the legs and ankles
• Swollen abdomen
• Weakness

Exams and Tests

Constrictive pericarditis is very difficult to diagnose. Signs and symptoms are similar to restrictive cardiomyopathy and cardiac tamponade. Your doctor will need to rule out these conditions when making a diagnosis.

A physical exam may show that your neck veins stick out, suggesting increased blood pressure in the area. This is called Kussmaul's sign. The doctor may note weak or distant heart sounds when listening to your chest with a stethoscope.

The physical exam may also reveal liver swelling and fluid in the belly area.

The following tests may be ordered:

• Chest MRI
• Chest CT scan
• Chest x-ray
• Coronary angiography or cardiac catheterization
• ECG
• Echocardiogram

Treatment

The goal of treatment is to improve heart function. The cause must be identified and treated. This may include antibiotics, antituberculosis medications, or other treatments.

Diuretics ("water pills") are commonly prescribed in small doses to help the body remove excess fluid. Analgesics may be needed to control pain.

Decreased activity may be recommended for some patients.

A low-sodium diet may also be recommended.

The definitive treatment is a type of surgery called a pericardiectomy. This involves cutting or removing the scarring and part of the sac-like covering of the heart.

Outlook (Prognosis)

Constrictive pericarditis may be life threatening if untreated.

However, surgery to treat the condition is associated with a relatively high complication rate and is usually reserved for patients who have severe symptoms.

Possible Complications

• Cardiac tamponade
• Damage to the coronary arteries
• Heart failure
• Pulmonary edema
• Scarring of the heart muscle

When to Contact a Medical Professional

Call your health care provider if you have symptoms of constrictive pericarditis.

Prevention

Constrictive pericarditis in some cases is not preventable.

However, conditions that can lead to constrictive pericarditis should be adequately treated.

Pericardial effusion

Definition

Pericardial effusion (per-ih-KAHR-de-ul uh-FU-zhun) is the accumulation of excess fluid around the heart.

The heart is surrounded by a double-layered, sac-like structure called the pericardium. The space between the layers normally contains a very small amount of fluid.

Pericardial effusion is often related to inflammation of the pericardium that's caused by disease or injury, but pericardial effusion can also occur without inflammation. Sometimes, pericardial effusion can be caused by the accumulation of blood after a surgical procedure or injury.

When the volume of fluid exceeds the pericardium's "full" level, pericardial effusion puts pressure on the heart, causing poor heart function. If left untreated, pericardial effusion can cause heart failure or death.

What causes pericardial effusion?

Pericardial effusion, and the possible inflammation of the pericardium resulting from it (called pericarditis), can have many possible causes, including:

• Infection such as viral, bacterial or tuberculous
• Inflammatory disorders, such as lupus
• Cancer that has spread (metastasized) to the pericardium
• Kidney failure with excessive blood levels of nitrogen
• Heart surgery

Who is affected by pericardial effusions?

Since pericardial effusions are a result of many different diseases or conditions, anyone who develops one of the many conditions that can produce an effusion may be affected.

Is pericardial effusion serious?

The seriousness of the condition depends on the primary cause and size of the effusion and whether it can be treated effectively. Causes that can be treated or controlled, such as an infection due to a virus or heart failure, allows the patient to be effectively treated and remain free of pericardial effusions.

Pericardial effusion caused by other conditions, such as cancer, is very serious and should be diagnosed and treated promptly.

Additionally, rapid fluid accumulation in the pericardium can cause cardiac tamponade, a severe compression of the heart that impairs its ability to function. Cardiac tamponade resulting from pericardial effusion can be life-threatening.

What are the symptoms of pericardial effusion?

Many patients with pericardial effusion have no symptoms. The condition is often discovered on a chest x-ray or echocardiogram that was performed for another reason. Initially, the pericardium may stretch to accommodate excess fluid build-up. Therefore, signs and symptoms may not occur until a large amount of fluid has collected over time.

If symptoms do occur, they may result from compression of surrounding structures, such as the lung, stomach or phrenic nerve (a nerve that connects to the diaphragm). Symptoms also may occur due to diastolic heart failure (heart failure that occurs because the heart is unable to relax normally between each contraction due to the added compression).

Symptoms of pericardial effusion include:

• Chest pressure or pain
• Shortness of breath
• Nausea
• Abdominal fullness
• Difficulty in swallowing

Symptoms that pericardial effusion is causing cardiac tamponade include:

• Blue tinge to the lips and skin
• Shock
• Change in mental status

Cardiac tamponade is a severe compression of the heart that impairs its ability to function. Cardiac tamponade resulting from pericardial effusion can be life-threatening and is a medical emergency, requiring urgent drainage of the fluid.

How is pericardial effusion diagnosed?

The tests most commonly used to diagnose and evaluate pericardial effusion include:

• Chest x-ray
• Computed tomography (CT) scan of the chest
• Echocardiogram
• Pericardiocentesis: a procedure that uses a needle to remove fluid from the pericardium; the fluid is then examined to determine the cause of the effusion

How is pericardial effusion treated?

Treatment of pericardial effusion is based on the underlying condition that is causing it and if the effusion is leading to severe symptoms, such as shortness of breath or difficulty breathing.

Depending on the cause, the excess fluid may be either rich in protein (exudate) or watery (transudate). These two categories help physicians determine the best way to treat the cause of a pericardial effusion.

Medical management

The goal of medical management for pericardial effusions is to treat the underlying cause. Medical therapies for pericardial effusions include:

• Nonsteroidal antiinflammatory medications (NSAIDs) can be used to treat pericardial effusions caused by inflammation.
• Diuretics and other heart failure medications can be used to treat pericardial effusions caused by heart failure.
• Antibiotics are used to treat pericardial effusions caused by an infection.
• If a pericardial effusion is related to the presence of cancer, treatment may include chemotherapy, radiation therapy, or medication infused within the chest.

Procedures to treat pericardial effusion

Regardless if the pericardial effusion is transudative (consisting of watery fluid) or exudative (made up of protein-rich fluid), a large pericardial effusion causing respiratory symptoms or cardiac tamponade should be drained to remove the excess fluid, prevent its re-accumulation, or treat the underlying cause of the fluid buildup.

Large pericardial effusions may be drained through:

• Ultrasound-guided pericardiocentesis, a safe and effective procedure to remove excess fluid from the pericardium.
• Video-assisted thoracoscopic surgery (VATS), also known as thoracoscopy is a minimally-invasive technique performed under general anesthesia. VATS allows for visual evaluation of the pericardium and is used when the diagnosis of pericardial effusion has remained undiagnosed despite previous, less-invasive tests. It is also used to drain the excess fluid and prevent its reaccumulation.

Pericardial effusions that cannot be managed through medical management or drainage of excess fluid may require percutaneous (nonsurgical) or surgical treatment.

Percutaneous Balloon Pericardiotomy is a nonsurgical procedure performed using x-ray guidance to view the pericardium and place a balloon dilating catheter. Percutaneous balloon pericardiotomy is 85 to 92 percent successful at relieving reaccumulation of pericardial fluid 30 days following the procedure.

Pericardial Window (Subxyphoid Pericardiostomy) is a minimally invasive procedure in which an opening is made in the pericardium to drain fluid that has accumulated around the heart. A pericardial window can be completed through a small incision below t

Dextrocardia

Dextrocardia is a condition in which the heart is pointed toward the right side of the chest instead of normally pointing to the left. It is present at birth (congenital).

Causes

During the early weeks of pregnancy, the baby's heart develops. Sometimes, for reasons that are unclear, the heart develops and turns so that it points to the right side of the chest instead of the left side.

There are several types of dextrocardia. Most involve other defects of the heart and abdomen area.

The simplest type of dextrocardia is one in which the heart is a mirror image of the normal heart, and no other problems exist. This condition is rare. Usually in this case, the organs of the abdomen and the lungs will also be arranged in a mirror image of their normal position. For example, the liver will be on the left side instead of the right.

Some people with mirror-image dextrocardia have a problem with the fine hairs (cilia) that filter the air going into their nose and air passages. This condition is called Kartagener syndrome.

In the more common types of dextrocardia, heart defects are present in addition to the abnormal location of the heart. The most common heart defects seen with dextrocardia include:

• Double outlet right ventricle
• Endocardial cushion defect
• Pulmonary stenosis or atresia
• Single ventricle
• Transposition of the great vessels
• Ventricular septal defect

The abdominal and chest organs in babies with dextrocardia may be abnormal and may not work correctly. A very serious syndrome that appears with dextrocardia is called heterotaxy. Heterotaxy means the organs (atria of the heart and abdominal organs) are not in their usual places.

In heterotaxy, the spleen may be completely missing. Because the spleen is an extremely important part of the immune system, babies born without a spleen are in danger of severe bacterial infections and death. In another form of heterotaxy several small spleens exist, but may not work correctly.

Heterotaxy may also include:

• Abnormal gallbladder system
• Problems with the lungs
• Problems with the structure of the intestines
• Severe heart defects

Possible risk factors for dextrocardia include:

• Family history of the condition
• Mother with diabetes (may play a role in some forms of dextrocardia)

Symptoms

There are no symptoms of dextrocardia if the heart is normal.

Conditions that may include dextrocardia may cause the following symptoms:

• Bluish skin
• Difficulty breathing
• Failure to grow and gain weight
• Fatigue
• Jaundice (yellow skin and eyes)
• Pale skin (pallor)
• Repeated sinus or lung infections

Exams and Tests

There are no signs of dextrocardia if the heart is normal.

Conditions that can include dextrocardia may cause the following signs:

• Abnormal arrangement and structure of the organs in the abdomen
• Enlarged heart
• Problems with the structure of the chest and lungs, seen on x-rays
• Rapid breathing or problems breathing
• Rapid pulse

Tests to diagnose dextrocardia include:

• Computed tomography (CT) scans
• Magnetic resonance imaging (MRI) of the heart
• Ultrasound of the heart (echocardiogram)
• X-rays

Treatment

A complete mirror image dextrocardia with no heart defects requires no treatment. It is important, however, to let the child's health care provider know the heart is on the right side of the chest. This information can be important in some exams and tests.

Treatment for conditions that include dextrocardia depends on whether the infant has other heart or physical problems in addition to dextrocardia.

If heart defects are present with dextrocardia, the baby will most likely need surgery. Critically ill babies may need treatment with medication before surgery. These medications help the baby grow larger so surgery is less difficult to perform.

Medications include:

• "Water pills" (diuretics)
• Medications that help the heart muscle pump more forcefully (inotropic agents)
• Medications that lower blood pressure and ease the workload on the heart (ACE inhibitors)

The baby might also need surgery to correct problems in the organs of the abdomen.

Children with Kartagener syndrome will need repeated treatment with antibiotics for sinus infections.

Children with a missing or abnormal spleen need long-term antibiotics.

All children with heart defects should get antibiotics before surgeries or dental treatments.

See also:

• Congenital heart defect corrective surgery
• Pediatric heart surgery

Outlook (Prognosis)

Babies with simple dextrocardia have a normal life expectancy and should have no problems related to the location of the heart.

When dextrocardia appears with other defects in the heart and elsewhere in the body, how well the baby does depends on the severity of the problems.

The death rate in babies and children without a spleen may be high due to infections. This is at least partially preventable with daily antibiotics.

Possible Complications

Complications depend on whether dextrocardia is part of a larger syndrome, and whether other problems exist in the body. Complications include:

• Bacteria in the blood (septic shock)
• Blocked intestines (due to a condition called intestinal malrotation)
• Congestive heart failure
• Death
• Infection (heterotaxy with no spleen)
• Infertility in males (Kartagener syndrome)
• Repeated pneumonias
• Repeated sinus infections (Kartagener syndrome)

When to Contact a Medical Professional

Call your health care provider if your baby:

• Is often ill
• Does not seem to gain weight
• Tires easily

Seek emergency care if your baby has:

• A bluish tinge to the skin
• Trouble breathing
• Yellow skin (jaundice)

Prevention

Some syndromes that include dextrocardia may run in families. If you have a family history of heterotaxy, talk to your health care provider before becoming pregnant.

While there are no known ways to prevent dextrocardia, avoiding the use of illegal drugs (especially cocaine) before and during pregnancy may lower the risk of this problem.

Talk to your health care provider if you have diabetes, because it may contribute to your risk of having a child with certain forms of dextrocardia.

Marfan syndrome

What is Marfan syndrome?

Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.

Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.

What are the symptoms of Marfan syndrome?

Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the symptoms progress as the person ages. The body systems most often affected by Marfan syndrome are:

• Skeleton - People with Marfan syndrome are typically very tall, slender, and loose-jointed. Because Marfan syndrome affects the long bones of the skeleton, a person's arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal problems include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet.
  
  
• Eyes - More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal, and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. One serious complication that may occur with this disorder is retinal detachment. Many people with Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness).
  
  
• Heart and blood vessels (cardiovascular system) - Most people with Marfan syndrome have problems associated with the heart and blood vessels. Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear (aortic dissection) or rupture, causing serious heart problems or sometimes sudden death. Sometimes, defects in heart valves can also cause problems. In some cases, certain valves may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not result in any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate).
  
  
• Nervous system - The brain and spinal cord are surrounded by fluid contained by a membrane called the dura, which is composed of connective tissue. As someone with Marfan syndrome gets older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. This is called dural ectasia. These changes may cause only mild discomfort; or they may lead to radiated pain in the abdomen; or to pain, numbness, or weakness in the legs.
  
  
• Skin - Many people with Marfan syndrome develop stretch marks on their skin, even without any weight change. These stretch marks can occur at any age and pose no health risk. However, people with Marfan syndrome are also at increased risk for developing an abdominal or inguinal hernia, in which a bulge develops that contains part of the intestines.
  
  
• Lungs - Although connective tissue problems make the tiny air sacs within the lungs less elastic, people with Marfan syndrome generally do not experience noticeable problems with their lungs. If, however, these tiny air sacs become stretched or swollen, the risk of lung collapse may increase. Rarely, people with Marfan syndrome may have sleep-related breathing disorders such as snoring, or sleep apnea (which is characterized by brief periods when breathing stops).

What causes Marfan syndrome?

Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life.

The defective gene that causes Marfan syndrome can be inherited: The child of a person who has Marfan syndrome has a 50 percent chance of inheriting the disease. Sometimes a new gene defect occurs during the formation of sperm or egg cells, making it possible for two parents without the disease to have a child with the disease. But this is rare. Two unaffected parents have only a 1 in 10,000 chance of having a child with Marfan syndrome. Possibly 25 percent of cases are due to a spontaneous mutation at the time of conception.

Although everyone with Marfan syndrome has a defect in the same gene, different mutations are found in different families, and not everyone experiences the same characteristics to the same degree. In other words, the defective gene expresses itself in different ways in different people. This phenomena is known as variable expression. Scientists do not yet understand why variable expression occurs in people with Marfan syndrome.

How Marfan syndrome diagnosed?

There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history, including:

• information about any family members who may have the disorder or who had an early, unexplained, heart-related death
  
  
• a thorough physical examination, including an evaluation of the skeletal frame for the ratio of arm/leg size to trunk size
  
  
• an eye examination, including a "slit lamp" evaluation
  
  
• heart tests such as an echocardiogram (a test that uses ultrasound waves to examine the heart and aorta).

The doctor may diagnose Marfan syndrome if the patient has a family history of the disease, and if there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.

In some cases, a genetic analysis may be useful in making a diagnosis of Marfan syndrome, but such analyses are often time consuming and may not provide any additional helpful information. Family members of a person diagnosed with Marfan syndrome should not assume they are not affected if there is no knowledge that the disorder existed in previous generations of the family. After a clinical diagnosis of a family member, a genetic study might identify the specific mutation for which a test can be performed to determine if other family members are affected.

Recently, doctors discovered a connective tissue disorder known as Loeys-Dietz syndrome, which has several characteristics that overlap with those of Marfan syndrome. When making a diagnosis, it is important to distinguish between the two disorders: Loeys-Dietz is more likely to cause fatal aortic aneurysms, and treatment for the two is different. A diagnostic test for Loeys-Dietz syndrome is available.

Treatment

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.

Coarctation of the aorta

Definition

Coarctation (ko-ahrk-TAY-shun) of the aorta — or aortic coarctation — is a narrowing of the aorta, the large blood vessel that branches off your heart and delivers oxygen-rich blood to your body. When this occurs, your heart must pump harder to force blood through the narrow part of your aorta.

Coarctation of the aorta is generally present at birth (congenital). Coarctation of the aorta may range from mild to severe, and may not be detected until adulthood, depending on how narrowed the aorta is.

Coarctation of the aorta often occurs along with other heart defects. While treatment for coarctation of the aorta is usually successful, it's a condition that requires careful follow-up through infancy and throughout adulthood.

Symptoms

The signs and symptoms of coarctation of the aorta depend on its seriousness. Children with serious aortic narrowing tend to show signs and symptoms earlier in life, while mild cases may not be diagnosed until adulthood.

Babies with severe coarctation of the aorta usually begin having signs and symptoms shortly after birth. These include:

• Pale skin
• Irritability
• Heavy sweating
• Difficulty breathing

Left untreated, aortic coarctation in babies may lead to heart failure and death.

Older children and adults with the condition often don't have symptoms, because they tend to have less severe narrowing of the aorta. If signs or symptoms appear, the most common sign is high blood pressure (hypertension) measured in the arm. Signs and symptoms may include:

• High blood pressure
• Shortness of breath, especially during exercise
• Headache
• Muscle weakness
• Leg cramps or cold feet
• Nosebleeds

When to see a doctor
Seek medical help if you or your child has the following signs or symptoms:

• Severe chest pain
• Fainting
• Sudden shortness of breath
• Unexplained high blood pressure

While experiencing these signs or symptoms doesn't necessarily mean that you have a serious problem, it's best to get checked out quickly. Early detection and treatment may help save your life.

Risk factors

Coarctation of the aorta often occurs along with other congenital heart defects, although doctors don't know what causes multiple heart defects to form together. If you or your child has any of the following heart conditions, you or your child is more likely to have aortic coarctation:

• Bicuspid aortic valve. The aortic valve separates the lower left chamber (left ventricle) of the heart from the aorta. A bicuspid aortic valve has two leaflets instead of the usual three.
• Ventricular septal defect. In this condition, there's a hole in the wall that separates the two lower chambers (ventricles) of the heart. Oxygen-poor blood from the right ventricle mixes with oxygen-rich blood from the left ventricle, which pumps blood out to the body.
• Patent ductus arteriosus. While a baby is still in the womb, the ductus arteriosus is a blood vessel connecting the left pulmonary artery to the aorta, allowing blood to bypass the lungs. Shortly after birth, the ductus arteriosus usually closes. If it remains open, it's called a patent ductus arteriosus.
• Aortic valve stenosis. This is a narrowing of the valve that separates the left ventricle of the heart from the aorta. This means your heart has to pump harder to get adequate blood flow to your body. Over time, this can thicken the muscle of your heart and lead to heart failure.
• Mitral valve stenosis. This is a narrowing of the valve that lets blood flow through the left side of your heart. This means blood may back up into your lungs, causing shortness of breath or lung congestion. Like aortic valve stenosis, this condition can also lead to heart failure.
• cause:
  

Doctors aren't certain what causes aortic coarctation in most cases. For unknown reasons, mild to severe narrowing develops in part of the aorta. Although aortic coarctation can occur anywhere along the aorta, the coarctation is most often located near a blood vessel called the ductus arteriosus. The condition generally begins before birth.

Rarely, coarctation of the aorta may develop later in life. Severe hardening of the arteries (atherosclerosis) or a condition causing inflamed arteries (Takayasu's arteritis) may narrow your aorta, leading to aortic coarctation. In rare cases, trauma may lead to coarctation of the aorta.

Coarctation of the aorta usually occurs beyond the blood vessels that branch off to your upper body and before the blood vessels that lead to your lower body. This often means you'll have high blood pressure in your arms, but low blood pressure in your legs and ankles.

How is coarctation of the aorta diagnosed?

Your child's physician may have heard a heart murmur during a physical exam and referred your child to a pediatric cardiologist for testing. A heart murmur is simply a noise caused by the turbulence of blood flowing through a narrow region. Symptoms your child exhibits also will help with the diagnosis.

• A pediatric cardiologist specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood.
• The cardiologist will perform a physical exam, listen to your child's heart and lungs, and make other observations that help in the diagnosis.

The location within the chest that the murmur is heard best, as well as the loudness and quality of the murmur will give the cardiologist an initial idea of which heart problem your child may have. Other tests are needed to help with the diagnosis, and may include:

• chest x-ray
• echocardiogram (echo)
• electrocardiogram (ECG or EKG)
• magnetic resonance imaging (MRI)

Treatment & Care

Coarctation of the aorta is treated with repair of the narrowed vessel. This may be done through a cardiac catheterization procedure or through surgery in an operating room.

Very sick infants who require care in our intensive care unit (ICU), may need emergency repair of the coarctation. Others with few symptoms may have the repair scheduled on a less urgent basis.

• Cardiac catheterization
  • During the procedure, your child is sedated and a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin and guided to the inside of the heart.
  • Once the catheter is in the heart, the cardiologist will pass an inflated balloon through the narrowed section of the aorta to stretch the area open.
  • A small device, called a stent, may also be placed in the narrowed area after the balloon dilation to keep the aorta open.
• Surgery
  • The surgical repair is done through an incision on the left side of the chest below your child’s armpit.
  • The ribs are spread, the lung moved aside, and the aorta exposed near the heart.
  • The aorta is clamped on either side of the narrowing and the narrow segment is cut out.
  • The two ends of aorta are then sewn together, clamps are removed and flow through the aorta is reestablished.