Marfan syndrome
Marfan syndrome is a genetic disorder that primarily affects the body's connective tissues, leading to a range of physical characteristics and health complications. It is often identified through a family history and is characterized by features such as tall stature, long limbs, and hyperflexible joints. While the condition can manifest in various organs, the heart, eyes, and spinal column are most commonly affected. Notable issues include mitral valve dysfunction and aortic valve abnormalities, which can result in serious cardiovascular complications. Eye problems, such as lens dislocation and cataracts, along with skeletal issues like scoliosis and an abnormal breastbone shape, are also prevalent. Due to the potential severity and variability of symptoms, a multidisciplinary team of specialists—including cardiologists, ophthalmologists, and orthopedic doctors—plays a crucial role in the ongoing care and monitoring of individuals with Marfan syndrome. Early detection and treatment of symptoms can significantly improve outcomes and quality of life for those affected.
Marfan syndrome
Anatomy or system affected: Bones, eyes, heart, musculoskeletal system, spine
Definition: A condition in which the connective tissue does not form correctly and tends to be too flexible. The abnormal chemical composition, especially of the skeleton and heart, leads to major medical characteristics that are sometimes evidenced only at puberty.
Causes: Genetic mutation
Symptoms: Tall and slender appearance, long fingers or arms, loose joints, heart problems, dislocation of eye lens, scoliosis, crowded teeth
Duration: Lifelong
Treatments: Dependent on severity and structures affected; may include surgery and medications
Causes and Symptoms
Studies have located the gene that causes the inherited form of Marfan syndrome. About 25 percent of Marfan syndrome cases result from spontaneous mutation. While this knowledge promises better future recognition of the condition, the range and severity of the condition is so variable that diagnosis remains difficult.
Usually, Marfan syndrome is discovered through a detailed family history. The observation that a person is tall and slender and has unusually long fingers or arms is often an early clue. The presence of loose joints with great suppleness is characteristic of the disease. Manifestations of this condition may occur in any part of the body, but the heart, eyes, and spinal column are the most common.
Treatment and Therapy
Because a variety of organs may be involved in Marfan syndrome, it is essential that several specialists form a team to evaluate and monitor the patient during his or her lifetime. The most serious, and most common, problem area is the heart. Mitral valve problems may lead to leakage or regurgitation of blood. The aortic valve can develop a backflow into the heart.
In the eyes, a characteristic sign is the dislocation of the lens. This symptom is difficult to detect and, like many others, can vary widely in intensity. Cataracts are also associated with this condition.
Other characteristics are found in the skeleton. Spinal curvature, or scoliosis, and a breastbone that either protrudes or indents are observed. Crowded teeth and an arched palate are not uncommon.
Any of these symptoms can lead to serious consequences and should be discovered as early as possible. Regular examinations by specialists in cardiology, ophthalmology, and orthopedics are essential. Most of the possible progressive aspects of the condition can be treated effectively.
Bibliography
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"Learning about Marfan Syndrome." National Human Genome Research Institute. Natl. Insts. of Health, 21 Apr. 2014. Web. 30 Apr. 2016.
"Marfan Syndrome." Genetics Home Reference. Natl. Insts. of Health, 26 Apr. 2016. Web. 30 Apr. 2016.
"Marfan Syndrome." Mayo Clinic, 11 June 2023, www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782. Accessed 7 Aug. 2023.
Pyeritz, Reed E., and Cheryll Gasner. The Marfan Syndrome. 5th ed. Port Washington: Natl. Marfan Foundation, 2001. Print.
Robinson, Peter N., and Maurice Godfrey, eds. Marfan Syndrome: A Primer for Clinicians and Scientists. New York: Kluwer, 2004. Print.