Marfan Syndrome

Dilated Aorta

Examples of Joint Flexibility of A Marfan Syndrome Carrier

Symptoms in the heart are Mitral Valve Regurgitation, which occurs because of the weakness and elasticity of the valves in the heart. Mitral Valve Regurgitation is when the blood going into heart or different valves in the heart “leaks” backs into the previous vessel or valve. This results in the heart working harder, and ultimately even fatal consequences like heart failure.

Marfan Syndrome

Marfan syndrome is a disorder of the connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows. Because connective tissue is found throughout the body, Marfan syndrome features can occur in many different parts of the body.

Autosomal Dominant Pattern-A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of autosomal chromosomes.

Spinal Cord

People with Marfan syndrome are usually very tall and thin. Their limbs may seem too long for their body, and disproportional. Some of the more major consequences of the disorder are blood vessel, and heart problems. In many cases, stretching of the aorta occurs, resulting in leakage of blood from the vessel, and ultimately an aneurism. One of the most common but also dangerous symptoms is the enlargement of the aortic arch, resulting in a dilated aorta.