What are some of the emotional
and psychological effects of Marfan syndrome?
Being diagnosed and learning to live with a genetic disorder can cause social, emotional, and financial stress. It often requires a great deal of adjustment in outlook and lifestyle. A person who is an adult when Marfan syndrome is diagnosed may feel angry or afraid. There may also be concerns about passing the disorder to future generations or about its physical, emotional, and financial implications.
The parents and siblings of a child diagnosed with Marfan syndrome may feel sadness, anger, and guilt. It is important for parents to know that nothing that they did caused the fibrillin-1 gene to mutate. Parents may be concerned about the genetic implications for siblings or have questions about the risk to future children.
Some children with Marfan syndrome are advised to restrict their activities. This may require a lifestyle adjustment that is hard for a child to understand or accept.
For both children and adults, appropriate medical care, accurate information, and social support make it easier to live with the disease. Genetic counseling may also be helpful for understanding the disease and its potential impact on future generations.
While Marfan syndrome is a lifelong disorder, the outlook has improved in recent years. As early as the 1970s, the life expectancy of a person with Marfan syndrome was two-thirds that of a person without the disease; however, with improvements in recognition and treatment, people with Marfan syndrome now have a life expectancy similar to that of the average person.
What research is being conducted to help people with Marfan syndrome?
Numerous studies are underway that should lead to a better understanding of Marfan syndrome and its treatment. They include a plan to identify the factors responsible for the cardiovascular manifestations of Marfan syndrome, a study to better understand the process that leads to skeletal manifestations, and studies to clarify the role of a chemical messenger called transforming growth factor-beta (TGF-β) in the disorder.
Scientists are conducting research on Marfan syndrome from a variety of perspectives. One approach is to better understand what happens once the genetic defect or mutation occurs. How does it change the way connective tissue develops and functions in the body? Why are people with Marfan syndrome affected differently? Scientists are searching for the answers to these questions both by studying the genes themselves and by studying large family groups affected by the disease. Mouse models that carry mutations in the fibrillin-1 gene may help scientists better understand the disorder. Animal studies that can provide preliminary information for gene therapy are also underway.
Other scientists are focusing on ways to treat some of the complications that arise in people with Marfan syndrome. Clinical studies are being conducted to evaluate the usefulness of certain medications in preventing or reducing problems with the aorta.
For example, research has shown that the blood pressure medication losartan prevents aortic aneurysms in a mouse model of Marfan syndrome. New studies receiving funding from the National Heart, Lung and Blood Institute are now underway to determine whether the drug has the same beneficial effect in people.
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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