Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics:
- Dislocation of one or both lenses of the eye
- A protruding or indented breastbone
- Flat feet
- Aortic dilatation
- Dural ectasia (a problem with the sac surrounding the spinal cord)
- Stretch marks
- Collapsed lung
Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.Read more: Marfan Syndrome Article
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Related Disease Conditions
A cataract is an eye disease that causes the eye's lens to become cloudy and opaque with decreased vision. Causes of cataracts include diabetes, hypothyroidism, certain genetic illnesses, hyperparathyroidism, atopic dermatitis, and certain medications. Cataract symptoms and signs include a decrease in vision and a whitish color to the affected eye. Treatment for cataracts may involve cataract surgery.
Glaucoma is a common eye condition in which the fluid pressure inside the eye rises because of slowed fluid drainage from the eye. If untreated, glaucoma may damage the optic nerve and other parts of the eye, causing the loss of vision or even blindness.
Mixed Connective Tissue Disease (MCTD)
Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. Connective tissue diseases that are strictly inheritable include Marfan syndrome and Ehlers-Danlos syndrome. The classic immune-related connective tissue diseases include systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymyositis, and dermatomyositis. Treatment is often directed at suppressing the inflammation present in the tissues by using anti-inflammatory and immunosuppressive medications.
Learn about osteoporosis, a condition characterized by the loss of bone density, which leads to an increased risk of bone fracture. Unless one experiences a fracture, a person may have osteoporosis for decades without knowing it. Treatment for osteoporosis may involve medications that stop bone loss and increase bone strength and bone formation, as well as quitting smoking, regular exercise, cutting back on alcohol intake, and eating a calcium- and vitamin D-rich balanced diet.
Palpitations are uncomfortable sensations of the heart beating hard, rapidly, or irregularly. Some types of palpitations are benign, while others are more serious. Palpitations are diagnosed by taking the patient history and by performing an EKG or heart monitoring along with blood tests. An electrophysiology study may also be performed. Treatment of palpitations may include lifestyle changes, medication, ablation, or implantation of a pacemaker. The prognosis if palpitations depends on the underlying cause.
What Causes Abdominal Pain?
Abdominal pain can have many causes that range from mild to severe. Some of these causes include bloating, gas, colitis, endometriosis, food poisoning, GERD, IBS (irritable bowel syndrome), ovarian cysts, abdominal adhesions, diverticulitis, Crohn's disease, ulcerative colitis, gallbladder disease, liver disease, and cancers. Signs and symptoms of the more serious causes include dehydration, bloody or black tarry stools, severe abdominal pain, pain with no urination or painful urination. Treatment for abdominal pain depends upon the cause.
Endocarditis, a serious infection of one of the four heart valves is caused by growth of bacteria on one of the heart valves; leading to an infected massed called a "vegetation." The infection can be caused by having bacteria in the bloodstream after dental work, colonoscopy, or other similar procedures. Endocarditis symptoms include: fever, fatigue, weakness, chills, aching muscles and joints, night sweats, edema in the legs, feet, or abdomen, malaise, shortness of breath and small skin lesions. Treatment for endocarditis is generally aggressive antibiotic treatment.
Abdominal Aortic Aneurysm
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. Most abdominal aortic aneurysms produce no symptoms. Treatment may include observation or surgical repair.
Collapsed Lung (Pneumothorax)
A pneumothorax is free air in the chest outside the lung, that causes the lung to collapse (collapsed lung). There are two types of pneumothorax, spontaneous or primary pneumothorax and secondary pneumothorax. Symptoms include sudden chest pain, shortness of breath, rapid heart rate, rapid breathing, cough, and fatigue.
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.
Connective Tissue (CT) Disease
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.
Sleep Disorders (How to Get a Good Night's Sleep)
A number of vital tasks carried out during sleep help maintain good health and enable people to function at their best. Sleep needs vary from individual to individual and change throughout your life. The National Institutes of Health recommend about 7-9 hours of sleep each night for older, school-aged children, teens, and most average adults; 10-12 for preschool-aged children; and 16-18 hours for newborns. There are two stages of sleep; 1) REM sleep (rapid-eye movement), and 2) NREM sleep (non-rapid-eye movement). The side effects of lack of sleep or insomnia include: Irritability Tiredness Feeling sleepy during the day Concentration or memory problems Lack of sleep and insomnia can be caused by medical conditions or diseases, medications, stress, or pain. The treatment for lack of sleep and insomnia depends upon the cause.
The lungs are primarily responsible for the exchange of oxygen and carbon dioxide between the air we breathe and the blood. Eliminating carbon dioxide from the blood is important, because as it builds up in the blood, headaches, drowsiness, coma, and eventually death may occur. The air we breathe in (inhalation) is warmed, humidified, and cleaned by the nose and the lungs.
Regular physical activity can reduce the risk of disease. Regular exercise can also reduce the symptoms of stress and anxiety. There are fitness programs that fit any age or lifestyle.
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.
Eyeglasses, Sunglasses, and Magnifying Glasses
Nonprescription eyeglasses are available over the counter (OTC) and are typically used by people who can no longer read fine print. OTC trifocals are helpful for those who require multiple distances or focal lengths for near and intermediate tasks. OTC sunglasses should offer 100% protection from the sun's UVA and UVB rays. OTC magnifying glasses are useful for viewing tiny objects or fine print.
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.
Hernia (Abdominal Hernia, Types, and Surgery)
A hernia occurs when an organ or piece of tissue protrudes from the space in which it is normally contained. Symptoms of a hernia include pain, nausea, vomiting, bowel obstruction, and fever. Hernias are diagnosed by a physical exam and imaging tests. Some hernias may be held in place with a supportive belt. Other hernias require surgical repair. The prognosis of people who undergo elective hernia repair tends to be good.
Genetic Diseases (Disorder Definition, Types, and Examples)
The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Sudden Cardiac Arrest
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, heart failure, obesity, diabetes, and drug abuse. Treatment of sudden cardiac arrest is an emergency, and action must be taken immediately.
Heart Valve Disease
Heart valve disease occurs when the heart valves do not work the way they should. Symptoms of valve disease include shortness of breath, weakness or dizziness, discomfort in your chest, palpitations, swelling of your ankles, feet or abdomen, and rapid weight gain.
How the Heart Works: Sides, Chambers, and Function
The heart is a very important organ in the body. It is responsible for continuously pumping oxygen and nutrient-rich blood throughout your body to sustain life. It is a fist-sized muscle that beats (expands and contracts) 100,000 times per day, pumping a total of five or six quarts of blood each minute, or about 2,000 gallons per day.
Contact Lenses: Colored, Soft, Hard, Toric and Bifocal
Contact lenses fit over the cornea and correct vision problems such as nearsightedness, farsightedness, or astigmatism. Contact lenses may be hard or soft. Bifocal contact lenses may be worn by those who have presbyopia. Toric contact lenses are for people who have astigmatism.
Oral Health Problems in Children
Oral health problems in children include thumb sucking, tongue thrusting, lip sucking, tooth decay, and early tooth loss. Get tips on how to prevent these problems in your child.
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.
Sleep Related Breathing Disorders
Sleep-related breathing disorders are characterized by disruptions of normal breathing patterns that only occur during sleep. Snoring and sleep apnea are the most common sleep-related breathing disorders.
How to Stop Snoring
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.
Loeys-Dietz 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 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.
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.
Heart disease (coronary artery disease) occurs when plaque builds up in the coronary arteries, the vessels that supply blood to the heart. Heart disease can lead to heart attack. Risk factors for heart disease include: Smoking High blood pressure High cholesterol Diabetes Family history Obesity Angina, shortness of breath, and sweating are just a few symptoms that may indicate a heart attack. Treatment of heart disease involves control of heart disease risk factors through lifestyle changes, medications, and/or stenting or bypass surgery. Heart disease can be prevented by controlling heart disease risk factors.
Emphysema is a COPD (chronic obstructive pulmonary disease) that often occurs with other obstructive pulmonary problems and chronic bronchitis. Causes of emphysema include chronic cigarette smoking, exposure to secondhand smoke, air pollution, and in the underdeveloped parts of the world. Symptoms of emphysema include chronic cough, chest discomfort, breathlessness, and wheezing. Treatments include medication and lifestyle changes.
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.
Blood Clots (in the Leg)
Blood clots can occur in the venous and arterial vascular system. Blood clots can form in the heart, legs, arteries, veins, bladder, urinary tract and uterus. Risk factors for causes of blood clots include high blood pressure and cholesterol, diabetes, smoking, and family history. Symptoms of a blood clot depend on the location of the clot. Some blood clots are a medical emergency. Blood clots are treated depending upon the cause of the clot. Blood clots can be prevented by lowering the risk factors for developing blood clots.
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 heart problem that can occur, for example, during pregnancy or exercise, or it can be a symptom of serious heart condition, for example, congenital heart defects or heart valve disease. A heart murmur makes a whooshing or swishing sound. Symptoms of a heart murmur include swelling of the legs or feet, dizzy or lightheaded, blackouts, chest pain, rapid heart rate (palpitations), difficulty doing normal daily activities, fatigue, and a bluish tinge on the skin, lips, and fingernails. Treatment for heart murmurs in infants, children, and adults depend on the cause. Some heart murmurs can be harmless while some are serious and life threatening.
Fatigue can be described in various ways. Sometimes fatigue is described as feeling a lack of energy and motivation (both mental and physical). The causes of fatigue are generally related to a variety of conditions or diseases, for example, anemia, mono, medications, sleep problems, cancer, anxiety, heart disease, and drug abuse.Treatment of fatigue is generally directed toward the condition or disease that is causing the fatigue.
Heart Disease in Women
Heart disease in women has somewhat different symptoms, risk factors, and treatment compared to heart disease in men. Many women and health professionals are not aware of the risk factors for heart disease in women and may delay diagnosis and treatment. Lifestyle factors such as diet, exercise, tobacco use, overweight/obesity, stress, alcohol consumption, and depression influence heart disease risk in women. High blood pressure, high cholesterol, and diabetes also increase women's risk of heart disease. Electrocardiogram (EKG or ECG), stress-ECG, endothelial testing, ankle-brachial index (ABI), echocardiogram, nuclear imaging, electron beam CT, and lab tests to assess blood lipids and biomarkers of inflammation are used to diagnose heart disease. Early diagnosis and treatment of heart disease in women saves lives. Heart disease can be prevented and reversed with lifestyle changes.
Dislocated Ankle (Ankle Dislocation)
Symptoms and signs of a dislocated ankle include pain, swelling, bruising, ankle deformity, and possible numbness and tingling in the foot. Treatment of an ankle dislocation involves putting the ankle bones back in their normal positions, possible using gentle traction. The blood and nerve supply to the foot will be evaluated and the ankle will be checked for any related fractures. The ankle will be fitted with a splint or a cast.
Flatfoot (Pes Planus)
Flatfoot is a disorder in which the foot's entire sole is touching the ground while standing. Symptoms and signs of flatfoot include heel, ankle, knee, hip, and lower back pain and shin splints. Treatment depends upon the type of flatfoot, the symptoms, and the stage of the disorder.
Snoring is caused by the vibrations of the soft tissues at the back of the nose and throat while a person sleeps. There are many causes of snoring like being pregnant, allergies, asthma, colds, the flu, excess alcohol, some medications, smoking, and sleep position. Obstructive sleep apnea is a condition that causes snoring and can be serious. Treatments to reduce or stop snoring include lifestyle changes, home remedies, antisnoring devices and aids, medical treatments, and at times, surgery.