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).
A hernia is an opening or weakness in the muscular structure of the wall of the abdomen. This defect causes a bulging of the abdominal wall. Symptoms of a hernia include pain or discomfort and a localized swelling somewhere on the surface of the abdomen or in the groin area.
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. The most common cause of aortic aneurysms is
"hardening of the arteries" called arteriosclerosis.
Palpitations are unpleasant sensations of irregular and/or forceful beating of the heart. Palpitations can be relieved in many patients by stress reduction, stopping cigarettes, and reduction of caffeine and alcohol.
Retinal detachment is the separation of the retina from its attachments to the underlying eye tissue. Symptoms of retinal detachment include flashing lights and floaters. Highly nearsighted young adults and those who've had cataract surgery are at higher risk for retinal detachment.
Sleep apnea is defined as a reduction or cessation of breathing during sleep. The three types of sleep apnea are central apnea, obstructive apnea (OSA), and a mixture of central and obstructive apnea. Central sleep apnea is caused by a failure of the brain to activate the muscles of breathing during sleep. OSA is caused by the collapse of the airway during sleep. OSA is diagnosed and evaluated through patient history, physical examination and polysomnography. There are many complications related to obstructive sleep apnea. Treatments are surgical and non-surgical.
Chest pain is a common complaint by a patient in the ER. Causes of chest pain include broken or bruised ribs, pleurisy, pneumothorax, shingles, pneumonia, pulmonary embolism, angina, heart attack, costochondritis, pericarditis, aorta or aortic dissection, and reflux esophagitis. Diagnosis and treatment of chest pain depends upon the cause and clinical presentation of the patient's chest pain.
Scoliosis causes an abnormal curvature of the spine. When the cause of scoliosis is unknown the disorder is described based on the age when the scoliosis develops (infantile, juvenile, or adolescent idiopathic scoliosis). In functional scoliosis, curvature develops due to a problem somewhere else in the body. With neuromuscular scoliosis, there is a problem when the bones of the spine are formed. Treatment typically involves observation, bracing, and surgery and is dependent upon the severity of the curvature.
Emphysema is a progressive disease of the lungs. The primary cause of emphysema is smoking. Alpha 1-antitrypsin deficiency is a rare disorder that has a genetic predisposition to emphysema. Aging, IV drug use, immune deficiencies, and connect tissue illnesses are also risk factors for emphysema. Emphysema is a subtype of COPD (chronic obstructive pulmonary disease, COLD). Symptoms include shortness of breath and wheezing. Management of symptoms may be achieved with medications, quitting smoking, pulmonary rehabilitation, or surgery.
Snoring, like all other sounds, is caused by vibrations that cause particles in the air to form sound waves. While we are asleep, turbulent air flow can cause the tissues of the nose and throat to vibrate and give rise to snoring. Any person can snore. Snoring is believed to occur in anywhere from 30% of women to over 45% of men. People who snore can have any body type. In general, as people get older and as they gain weight, snoring will worsen. Snoring can be caused by a number of things, including the sleep position, alcohol, medication, anatomical structure of the mouth and throat, stage of sleep, and mouth breathing.
A heart murmur is the sound generated when blood flow within the heart is not smooth. Causes of heart murmurs can be functional, congenital, or caused heart valve conditions. Symptoms of a heart murmur may be none, or may include chest pain, shortness of breath, and arm, leg, and ankle swelling. Treatment of a heart murmur depends on the cause.
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
Sudden cardiac arrest is an unexpected, sudden death caused by sudden cardiac arrest (loss of heart function). Causes and risk factors of sudden cardiac arrest include (not inclusive): abnormal heart rhythms (arrhythmias), previous heart attack, coronary artery disease, smoking, high cholesterol, Wolff-Parkinson-White Syndrome, ventricular tachycardia or ventricular fibrillation after a heart attack, congenital heart defects, history of fainting, and heart failure, obesity, diabetes, and drug abuse. Treatment of sudden cardiac arrest is an emergency, and action must be taken immediately.
Aortic dissection is a small tear in the large blood vessel that leads from the heart and supplies blood to the body. There are two types of aortic dissection, type 1 and type 2. Signs and symptoms of aortic dissection include a tearing or ripping pain, nausea, sweating, weakness, shortness of breath, sweating, or fainting. Treatment depends on the type of aortic dissection, and the severity of the tear in the aorta.
Stretch marks occur in the dermis, the elastic middle layer of skin that allows it to retain its shape. When the skin is constantly stretched, the dermis can break down, leaving behind stretch marks.
Loeys-Dietz syndrome is a syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz syndrome are at a greater risk of dying from the aortic aneurysms, because the aneurysms are prone to rupture at a smaller size than other aneurysms. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair fo the aneurysms.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
A heart murmur is a continuous sound that is audible with a common
stethoscope, produced when blood passes through particular areas of the heart.
The heart has four chambers, two atria (singular = atrium) and two ventricles
separated by a "skeleton" of cartilage that separates each chamber. This
skeleton is made up of the atrial septum, the ventricular septum and four valves
(aortic, pulmonary, mitral and tricuspid) that direct blood flow in a specific
route within the heart allowing the most efficient use of each heart beat to
pump blood to the rest of the body.
How the heart works
Each heart beat has two phases, systole when the heart pumps and diastole
when the heart chambers fill with blood.
Blood enters the right atrium from the
body via the vena cava.
It travels through the tricuspid valve into the right
ventricle.