Marfan syndrome is an inherited disorder caused by a mutation in the FBN1 gene that affects the connective tissue, the body’s main support structure. The most prominent symptoms of this condition are disproportionately long limbs in the skeletal system, chest wall deformities, lens displacement in the eyes and, most importantly, aortic aneurysm in the cardiovascular system. Despite its serious life-threatening risks, it can now be successfully managed with effective treatment methods such as drug therapies to protect the aortic vessel and preventive surgery. Early diagnosis and the right treatment approach significantly increase the life expectancy and quality of life of patients.<\/p>\n
| Definition<\/td>\n | A genetic disorder affecting connective tissue, inherited in an autosomal dominant manner, involving multiple systems<\/td>\n<\/tr>\n |
| Genetic Factor<\/td>\n | Mutation in the FBN1 gene (fibrillin-1); disorder associated with TGF-\u03b2 signaling pathways<\/td>\n<\/tr>\n |
| Affected Systems<\/td>\n | Cardiovascular system (aortic root dilatation, aortic dissection), skeletal system (long limbs, scoliosis, pectus deformities), ocular system (lens ectopia), lung (pneumothorax), skin (striae)<\/td>\n<\/tr>\n |
| Symptoms<\/td>\n | Tall stature, disproportionately long arms and legs, chest wall deformities, flexible joints, myopia, lens shift, heart murmur, aortic enlargement<\/td>\n<\/tr>\n |
| Diagnostic Methods<\/td>\n | Ghent criteria, genetic testing (FBN1 mutation), ECHO, aortic evaluation with MRI\/CT, eye examination, skeletal system evaluation<\/td>\n<\/tr>\n |
| Complications<\/td>\n | Aortic aneurysm and dissection, mitral valve prolapse, sudden cardiac death, scoliosis, lens dislocation<\/td>\n<\/tr>\n |
| Treatment Methods<\/td>\n | Beta blockers or ARB (such as losartan), surgical intervention (e.g. Bentall’s surgery), regular cardiologic and ophthalmologic follow-up<\/td>\n<\/tr>\n |
| Follow-up and Monitoring<\/td>\n | Regular measurement of aortic diameter (ECHO\/CT\/MRI), cardiology and genetic counseling, eye and skeletal system checks<\/td>\n<\/tr>\n |
| Ways of Prevention<\/td>\n | Genetic counseling, physical activity limitations (especially heavy sports), regular medical monitoring, prophylactic surgical planning<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n |