The major<unk>  for diagnosis of Marfan syndrome are ectopia lentis, aortic root dilation/dissection, dural ectasia, or a combination of more than 4 out of 8 major skeletal features.  In an individual with no known family history of Marfan syndrome and in the absence of any known FBN1 mutations, major involvement of two organs systems (e.g. skeletal, cardiovascular, ocular) and minor involvement of a third system is required for diagnosis.  However, if the patient has a known FBN1 mutation or affected relative, major involvement of only one system and minor involvement of another is sufficient for diagnosis.
Marfan's syndrome diagnostic criteria
Andersen-Tawil syndrome laboratory findings
Metabolic syndrome diagnostic criteria
Short QT syndrome laboratory findings
Marfan's syndrome medical therapy
Andersen-Tawil syndrome primary prevention
Fabry's disease electrocardiogram
Fabry's disease laboratory findings