Marfan Syndrome
Description
Marfan syndrome is a genetic disorder that affects the body‘s connective tissue, which provides support and structure to various organs and systems. This condition can lead to a wide range of symptoms, primarily affecting the heart, eyes, and skeletal system. This blog will delve into the intricacies of Marfan syndrome, covering its causes, symptoms, diagnosis, management, and how individuals can thrive with this condition.
Genes Involved
Marfan syndrome is primarily caused by mutations in the FBN1 gene. This gene provides instructions for making fibrillin-1, a protein essential for building connective tissue. Other genes, such as TGFBR1, TGFBR2, and TGFB2, may also play a role in rarer forms of Marfan syndrome.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Marfan syndrome is crucial for early diagnosis and management. Some common features include:
- Skeletal: Tall stature with long limbs and fingers, scoliosis (curvature of the spine), chest deformities (pectus excavatum or pectus carinatum), joint hypermobility.
- Cardiovascular: Aortic aneurysm (weakening and widening of the aorta), mitral valve prolapse (a condition where the heart‘s mitral valve doesn‘t close properly).
- Ocular: Dislocated lens (the eye‘s lens moves out of position), myopia (nearsightedness), retinal detachment.
- Other: Dural ectasia (widening of the covering surrounding the spinal cord), pneumothorax (collapsed lung).
The severity of symptoms can vary widely among individuals with Marfan syndrome.
Causes
Marfan syndrome is caused by a genetic mutation, most commonly in the FBN1 gene. These mutations disrupt the production of fibrillin-1, a protein vital for the formation and integrity of connective tissue. The faulty fibrillin-1 leads to weakened and abnormal connective tissue, causing the characteristic symptoms of Marfan syndrome.
Inheritance/recurrence risk
Marfan syndrome is inherited in an autosomal dominant pattern. This means that if one parent has the condition, there is a 50% chance that each child will inherit the faulty gene and develop Marfan syndrome. If an individual with Marfan syndrome has a child with someone who does not have the condition, there is still a 50% chance that the child will inherit the faulty gene. In some cases, Marfan syndrome can occur due to spontaneous mutations, meaning the gene defect is not inherited from either parent.
