Where can people find additional
information about Marfan syndrome?
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearing House
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Phone:
301-495-4484 or 877-22-NIAMS (226-4267) (free of charge)
TTY: 301-565-2966
Fax:
301-718-6366
E-mail: niamsinfo@mail.nih.gov
www.niams.nih.gov
NIAMS provides information about various forms of arthritis and rheumatic
disease and bone, muscle, joint, and skin diseases. It distributes patient and
professional education materials and refers people to other sources of
information. Additional information and updates can also be found on the NIAMS
Web site.
National Human Genome Research Institute (NHGRI)
National Institutes of
Health
9000 Rockville Pike
Bethesda, MD 20892
Phone: 800-411-1222 (free of charge)
E-mail: prpl@mail.cc.nih.gov
www.genome.gov
NHGRI conducts studies involving various aspects of Mar-fan syndrome. To find out if there is a study for which you might qualify, call or e-mail NHGRI using the contact information below, or visit www.clinicaltrials.gov
Phone: 800-411-1222 (free of charge) (for information about entering a clinical study)
E-mail: prpl@mail.cc.nih.gov
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050-2023
Phone: 800-8-MARFAN (862-7326) (free of charge)
Fax: 516-883-8040
E-mail: staff@marfan.org
www.marfan.org
This organization helps people who have Marfan syndrome and related connective tissue disorders. It provides information and materials about the disorder and about how to seek appropriate medical care. It supports research and promotes public awareness of Marfan syndrome. The foundation can also provide the names of doctors who diagnose and treat Marfan syndrome.
American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Phone:
800-AHA-USA1 (242-8721) (free of charge)
E-mail: inquiries@heart.org
www.americanheart.org
The American Heart Association has a fact sheet on its Web site that
describes the blood vessel and heart valve complications of Marfan syndrome. It
is also a source of information on precautions doctors and other health
professionals must use in treating patients who have heart problems associated
with Marfan syndrome.
Acknowledgments
The NIAMS gratefully acknowledges the assistance of Bernadette Tyree, Ph.D., NIAMS, NIH; Priscilla Ciccarielo, Director Emeritus, National Marfan Foundation; Harry C. Dietz, M.D., Johns Hopkins University School of Medicine, Baltimore, MD; Carolyn Levering and Eileen Masciale, National Marfan Foundation, Port Washington, NY; Francisco Ramirez, M.D., Mount Sinai School of Medicine of the City University of New York, NY; and Joel Rosenbloom, M.D., Ph.D., University of Pennsylvania, Philadelphia, in the preparation and review of this information.
SOURCE: National Institute of Arthritis and Musculoskeletal and Skin Diseases. Marfan Syndrome. <http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/default.asp#11>
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.
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.
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.
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.
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