Loeys-Dietz syndrome type 2

Marfan syndrome type 2


Type of disease: Rare conditions

Marfan syndrome type 2 (MFS2), also known as Loeys-Dietz syndrome type 2 (LDS2), is a genetic disorder affecting the body’s connective tissues, which help provide strength and flexibility to many parts of the body, including muscles, blood vessels, heart valves, and bones. The main feature of MFS2 affects the heart. Specifically, the main artery carrying blood away from the heart (aorta) can widen over time (aortic aneurysm). This widening can cause the vessel to tear (aortic dissection). Other features of Marfan syndrome can include a split (bifid) uvula, a small jaw (micrognathia) that is set further back than normal (retrognathia), a sunken or protruding chest, flat feet, loose or flexible joints, crowded teeth, stretch marks, and an opening in the roof of the mouth (cleft palate). Unlike Marfan syndrome type 1 (MFS1), MFS2 does not affect the eyes or cause major bone (skeletal) abnormalities.

MFS2 is caused by a mutation (change) in the TGFBR2 gene. This gene acts as an instruction for the body to make a protein that is important for cell signaling, which helps with growth and development of tissues in the body. When a person has a mutation in the TGFBR2 gene, it leads to abnormal development of connective tissues in the body, causing the features of this condition. MFS2 is inherited in an autosomal dominant way, which means a mutation in only one of the two copies of the TGFBR2 gene a person has is enough to cause the condition.

MFS2 is suspected in a person with an enlarged aorta who does not have other symptoms that are found in MFS1. The diagnosis is confirmed with genetic testing. Although there is no cure for Marfan syndrome, there are options to address many of the symptoms. In some cases, surgery may be needed. If your child has been diagnosed with MFS2, talk with their doctor about all treatment options. Support groups are available for support and more information.

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