Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

Table 2

Major Ghent criteria used to diagnose Marfan syndrome.

System	Major criteria
Skeletal system	Pectus carinatum
	Pectus excavatum requiring surgery
	Upper to lower segment ratio <0.86 or span to height ratio >1.05
	Arachnodactyly: wrist and thumb signs; Pes planus; Protrusio acetabuli
	Scoliosis > 20 d or spondylolisthesis
	Reduced extensions at the elbows (<170 d)
Ocular system	Ectopia lentis (dislocated lens)
Cardiovascular system	Dilatation of the ascending aorta
	Aortic root dilatation
Dura	Lumbosacral dural ectasia
Family/genetic history	Family history
	Genetic mutations known to cause Marfan syndrome; Inheritance of DNA maker haplotype linked to MFS in the family