[MIM 604 308]

(OCTD)

Acronym of Mitral valve prolapse, Aortic root diameter at upper limits of normal for body size, Stretch marks on the skin, Skeletal conditions.

Autosomal dominant transmission of punctual mutation of the FBN1 gene (15q21.1): genetically and phenotypically close to the Marfan, Shprintzen-Goldberg and Weill - Marchesani syndromes (see these terms).

Association of:

-        mitral valve prolapse

-        aortic dilation without aneurysm

-        skin stretch marks, hypermobility of the joints

-        skeletal problems, mainly a deformity of the chest (pectus excavatum or carinatum, scoliosis).

On the contrary to Marfan syndrome: no aortic aneurysm nor subluxation of the lens.

Medical management as in case of Marfan syndrome.

Anesthetic implications:

see MARFAN syndrome

References :

Updated: August 2019