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1、Diseases of the Aorta,Fred Wu, M.D. April 19, 2006,Categories of aortic disease,Aneurysm Pseudoaneurysm Dissection Penetrating atherosclerotic ulcer Intramural hematoma Atherosclerotic disease Coarctation,Thoracic aortic aneurysms,Aortopathy due to heritable diseases (20% of aneurysms) Marfan syndro
2、me Ehlers-Danlos syndrome Familial Annuloaortic ectasia Turner syndrome Noonan syndrome Osteogenesis imperfecta Bicuspid aortic valve Coarctation of the aorta Metabolic disorders (eg, homocystinuria, familial hypercholesterolemia) Aortic arteritis (Takayasus, giant-cell) Trauma Pregnancy Syphilis/in
3、fectious Crack cocaine use Iatrogenic causes (eg, cardiac catheterization) Atherosclerosis Hypertension,Marfan Syndrome,Autosomal dominant inheritance Missense mutation in the fibrillin gene on chromosome 15 Prevalence is 1 in 10,000 (25% sporadic) Leading cause of premature death is aortic root ane
4、urysm leading to dissection (cystic medial degeneration),Marfan Syndrome,Ghent Criteria Index case Major criteria in 2 different organ systems and involvement in a third organ system Family history Major criterion in family/genetics and 1 major criterion in an organ system and involvement in a secon
5、d organ system,Marfan Syndrome,Skeletal Major (at least 4 items) Pectus carinatum Pectus excavatum requiring surgery Decreased upper to lower segment ratio OR increased arm spam to height ratio Wrist and thumb signs Scoliosis 20 degrees Decreased elbow extension Pes planus Protrusio acetabulae Minor
6、 Pectus excavatum (moderate) Joint hypermobility High arched palate with crowding of teeth Facial appearance Ocular Major Ectopia lentis Minor Abnormally flat cornea Increased axial length of globe Hypoplastic iris or ciliary muscle Skin and integument Minor only Striae not associated with weight ch
7、ange, pregnancy or stress Recurrent or incisional hernias,Pulmonary Minor only Spontaneous pneumothorax Apical blebs Dura Major only Lumbosacral dural ectasia Cardiovascular Major Dilatation of the ascending aorta involving at least the sinuses of Valsalva Dissection of the ascending aorta Minor Mit
8、ral valve prolapse with or without MR Mitral annular calcification before age 40 Dilation or dissection of descending aorta before age 50 Dilation of the PA without cause before age 40 Familial/genetic Major only First degree relative who meets criteria independently Presence of mutation in FBN1 kno
9、wn to cause MFS Presence of haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed MFS in family,Marfan Syndrome,Skeletal Major (at least 4 items) Pectus carinatum Pectus excavatum requiring surgery Decreased upper to lower segment ratio OR increased arm spa
10、m to height ratio Wrist and thumb signs Scoliosis 20 degrees Decreased elbow extension Pes planus Protrusio acetabulae Minor Pectus excavatum (moderate) Joint hypermobility High arched palate with crowding of teeth Facial appearance Ocular Major Ectopia lentis Minor Abnormally flat cornea Increased
11、axial length of globe Hypoplastic iris or ciliary muscle Skin and integument Minor only Striae not associated with weight change, pregnancy or stress Recurrent or incisional hernias,Pulmonary Minor only Spontaneous pneumothorax Apical blebs Dura Major only Lumbosacral dural ectasia Cardiovascular Ma
12、jor Dilatation of the ascending aorta involving at least the sinuses of Valsalva Dissection of the ascending aorta Minor Mitral valve prolapse with or without MR Mitral annular calcification before age 40 Dilation or dissection of descending aorta before age 50 Dilation of the PA without cause befor
13、e age 40 Familial/genetic Major only First degree relative who meets criteria independently Presence of mutation in FBN1 known to cause MFS Presence of haplotype around FBN1, inherited by descent, known to be associated with unequivocally diagnosed MFS in family,Familial TAA Syndromes,At least 19% o
14、f patients with thoracic aortic aneurysms (without overt connective tissue disorders) have a family history Tend to present younger than those presenting sporadically Genetically heterogeneous,Bicuspid aortic valve,Initially, ascending thoracic aortic aneurysms in BAV thought to be due to poststenot
15、ic dilatation 75% with cystic medial necrosis on pathology compared with 14% of those with tricuspid aortic valves,Bicuspid aortic valve,Nistri et al demonstrated 52% incidence of aortic dilatation in patients with normally functioning bicuspid aortic valve,Syphilitic (luetic) aortitis,Latent period
16、 from initial spirochetal infection averages 10-30 years (range 5 to 40 years) Due to direct infection of aortic media leading to an obliterative endarteritis of the vasa vasorum and destruction of collagen and elastic tissues (“tree barking”),Turner Syndrome,Associated with bicuspid aortic valve (30%) and coarctation. 42% of screened patients by one study with aortic root dilatation Aortic root dilatation can be seen with or without BAV, but when both are present risk of dissection is probably compounded Screening recommended every 5yrs,
