Marfans syndrome is a genetic disease of the connective tissue. Because there is…

Marfans syndrome is a genetic disease of the connective tissue. Because there is connective tissue present throughout the body, Marfans can involve multiple different sites. Patients with Marfans are tall and usually thin with longer than average fingers or toes like in this photo. Some patients born with Marfans have a family member with the disease, so it is usually easier to recognize Marfans early on. In some cases, the gene mutation occurs spontaneously without an involved family member and it can be harder to identify. It is important to recognize and diagnose a patient with Marfans early on, because this disease can involve vital internal organs like the heart and aorta. Marfans can cause the mitral valve of the heart to prolapse, this is because the connective tissue is almost floppy. The biggest concern with Marfans patients is an aortic aneurysm. Because the connective tissue is floppy, the aorta can stretch abnormally causing an aneurysm or a bulging of the vessel. If this vessel bulges enough, it could rupture causing massive blessing that could lead to instant death. If a patient is diagnosed with Marfans at an early age, there is more of a chance internal organs problems can be monitored and prevented.

Source by mrs_angemi

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