WHAT IS MARFAN SYNDROME

 

marfan syndrome :-  

                                              it is an inherited disorder of connective tissue  associated with  cvs( cardiovascular disease) disoders like arotic anurysm ,dissection & other.

                    it is an  autosomal dominant disorder but some cases may be occur due to some recent new mutations.

                    epidemiology,0.02% population are affected by this , so it is a rare disorder

                mutation affects the gene FBN1 gene, the FBN1 gene  encode for the fibrillin protein for extracellular matrix.the gene FBN1 located on the 15q21. 

                                 clinical features of marfan syndrome:-

                         1. arotic anurysm

                         2. arotic dissection

                         3.skin laxity

                         4.arotic valve regurgitation

                         5.bicuspid valve regurgitation

                         6.arachnodactly( long fingers), hyper mobile joints ,long arms and legs  

                         7. blue sclera ,lense dislocation, retinal detachment

                         8.high arched plate

                         9.scoliosis

                         10.flat feet

                         11. spine abnormality

                      investigations for the marfan syndrome:

                                                         usually diagnosis is based on the clinical faetures of the patients and it is conformed by the genetic testing.

x-ray for the abnormalities, echocardiogarphy is most sensitive     

                                 

                                     1.1:- x-ray;PA-thoracic aortic anurysm 

          

              management of marfan syndrome:-

                                 activity that increase the cardiac output should be avoided , beta-blockers reduces the risk of arotic dilation,for progressive arotic root dilation surgery  is the tretment

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