Transesophageal echocardiography TEE [PDF] Magnetic resonance imaging MRIwhich lets the doctor study the heart while it is moving, or a computed tomography CT scan learn more about these types of radiographic testing Genetic testing: Genetic testing provides a starting point for diagnosis.
Often people with Marfan syndrome are first evaluated for the disease because of its effect on their skeletal development. Someone with Marfan syndrome is usually very tall, thin, and loose-jointed.
When they stretch out their arms from their sides, their arm length from one side to the other is greater than their height. Other common Marfan syndrome symptoms include: Long, slender fingers and toes; Curvature of the spine; Protruding or indented breastbone; Bands of thin, wrinkled skin around the hips, shoulders or lower back; Cardiovascular problems, including heart murmurs and an enlarged or bulging aorta, the main blood vessel that carries blood from the heart.
Most people with Marfan syndrome suffer from myopia nearsightedness and astigmatism. More than half of people with Marfan syndrome have a condition called ectopia lentis. As a result, visual acuity worsens.
Ectopia lentis is considered a key symptom of Marfan syndrome and is often the first sign of the disorder. Other Marfan syndrome symptoms involving the eye include:Many people ask, "Is there a cure for Marfan syndrome?"According to research scientists, there is no cure for Marfan syndrome.
In order to develop a cure, scientists need to identify and change the specific gene that is responsible for the disorder before birth. Marfan syndrome is a pleotropic autosomal dominant genetic disorder that results in weakening of connective tissue in the musculoskeletal, cardiovascular and ocular organ systems.
It is the second most common inherited connective tissue disorder, with an incidence of between 1/5, and 1/20, Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic, inherited disorders: Marfan syndrome, autosomal dominant, genetic disorder.
Basics of marfan syndrome Marfan syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues is a vital component of all organs in the body and provides strength and elasticity to blood vessels.
But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease's effect on appearance, academic performance and motor skills.
Providing emotional, practical support. Marfan syndrome is an inheritable condition that affects the body's connective tissues.
This eMedTV segment provides more information about this syndrome, including its causes, symptoms, treatment options, and prognosis.