SNP Shot: Genomic Insights

Marfan syndrome is a condition affecting connective tissue, which provides strength and flexibility to various body parts like bones, ligaments, muscles, blood vessels, and heart valves. The severity and progression of Marfan syndrome symptoms vary significantly from person to person.

Since connective tissue is widespread, Marfan syndrome can impact numerous bodily systems, frequently leading to issues in the heart, blood vessels, eyes, bones, and joints. Key characteristics include vision problems due to a dislocated lens (ectopia lentis) in one or both eyes and defects in the aorta, the major blood vessel carrying blood from the heart. The aorta can weaken and stretch, potentially causing an aneurysm (a bulge in the vessel wall). Aortic stretching can also lead to valve leakage and a dangerous aortic dissection (tearing of the aorta's layers). Aortic aneurysm and dissection pose life-threatening risks.

Many individuals with Marfan syndrome experience additional heart complications, such as mitral valve prolapse (leakage in the valve between two heart chambers) or aortic valve regurgitation (leakage in the valve regulating blood flow from the heart into the aorta). These valve leaks can cause symptoms like shortness of breath, fatigue, and heart palpitations (irregular heartbeat).

People with Marfan syndrome typically exhibit a tall and slender build, elongated fingers and toes (arachnodactyly), flexible joints, and an arm span exceeding their height. Other common features include a long, narrow face, crowded teeth, spinal curvature (scoliosis or kyphosis), stretch marks (striae) unrelated to weight changes, and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some may develop spontaneous pneumothorax (collapsed lung). Dural ectasia, an abnormal enlargement of the membrane surrounding the brain and spinal cord (dura), can occur, causing pain in the back, abdomen, legs, or head. Nearsightedness (myopia) is common, and the risk of cataracts and glaucoma is elevated compared to the general population.

Marfan syndrome symptoms can emerge anytime from infancy through adulthood. The condition's impact on lifespan varies depending on the timing and severity of symptoms. With appropriate management, many individuals with Marfan syndrome can achieve a normal lifespan.

Inheritance:

Marfan syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene is needed to cause the disorder. In about 25 percent of cases, Marfan syndrome arises from a new, spontaneous mutation in the FBN1 gene, occurring in individuals with no family history of the condition.