INDEX

A

Aneurysm 2-4, 7, 13, 16, 45, 47, 53, 58, 60, 64, 70, 71, 74, 85, 86, 88-90,

Anterior chamber 38, 39, 41

Aorta 2, 3, 6, 7, 9, 13-16, 19, 25, 45, 47, 50, 52-55, 58-63, 65, 70-72, 74-76, 80, 81, 84-86, 88-91, 93, 113-118, 127, 143, 146-148, 151, 162, 166-171, 178, 200, 206

Aortic dissection 2, 13, 17, 18, 20, 32, 45, 46, 50, 53, 54, 58, 60-63, 65, 70-72, 76, 89, 90, 113-115, 117, 118, 206

Aortic root 3, 7, 16-21, 32, 47-50, 53, 54, 56, 58, 59, 61-65, 70, 71, 73-81, 84, 86, 88, 90, 91, 94, 115, 116, 124, 126, 206, 207

Aortic root dilatation 20, 21, 47, 48, 59, 63-65, 71, 73, 90, 94, 115, 116,

24, 25, 39, 50, 114, 123-126, 178, 199

Arrhythmia 45, 58, 62, 76, 80 Assembly 108, 130-139, 150, 156, 161,

165, 167, 169, 170, 172, 173, 179-183, 185, 188, 192, 195, 199, 200, 203

Atenolol 60, 61

Atrioventricular (AV) valve 21, 81-83, 206, 207

B

Beads 131, 132, 136, 137, 139, 148, 150, 151, 155, 162, 163, 165, 166, 169, 184

Beals syndrome 114, 123

Bentall composite graft 70, 71, 73 Beta adrenergic blocking therapy 60 Beta-blockade 60

BMP 183, 203

Bone mineral density (BMD) 30, 31 Bundle 52, 83, 131, 132, 144-147,

150-153, 157, 161, 166, 169, 173, 181, 206

C

Calcium 61, 108, 110, 126, 133, 144, 147-149, 157, 170, 179, 188-195, 200

Calcium binding 108, 110, 126, 133, 149, 170, 179, 189, 191-195

Calcium binding epidermal growth factor (CbEGF) 102, 104, 105, 108, 110, 126, 127, 133, 138, 139, 144, 148-150, 157, 179, 180, 188-195, 197, 200

Cardiac arrhythmia 58 Cardiac auscultation 59 Cervical spine 29 Clinical indications 97

Congenital contractural arachnodactyly (CCA) 4, 5, 19, 21, 24, 39, 114, 115, 123-128, 178, 199, 203, 205, 206

Contractures 1, 19-21, 31, 115, 124-126, 203

Cornea 15, 35, 37, 39

Craniosynostosis 19-21, 40, 206

Cutis laxa (CL) 148, 170, 172, 199, 200 Cysteine 36, 102, 108, 110, 126, 130,

132, 134, 135, 144, 163-168, 171, 179-181, 183, 188, 189, 191, 192, 194-196

D

DeBakey classification 71, 113 Decorin 136, 144, 169, 173

Diagnostic criteria 7, 13, 15, 17, 19, 24, 38, 52, 64, 93, 94, 96-98, 114, 116, 209

Dolichostenomelia 1, 13, 14, 19, 20, 24 Doney honeycomb retinal dystrophy

172

Dural ectasia 4, 7, 13-15, 24-27, 29, 59, 93, 94, 96-98

E

Echocardiography 7, 16, 17, 19, 47, 52, 59, 63, 65, 79, 83, 84

Ectopia lentis 1-6, 13, 15, 18-20, 25, 35-41, 93, 96, 98, 101, 105, 144, 152, 157, 185

Ehlers-Danlos syndrome 4, 25, 39 Elastic fiber 114, 127, 136, 143,

145-148, 157, 161, 166, 167,

169-173, 181, 199-201, 203, 205,

206

Elasticity 105, 143, 144, 146-148, 150, 151, 153, 157

Elastin 8, 31, 52, 136, 143-148, 151, 155, 161, 162, 164-170, 172, 173, 199, 200, 206

Emilin 144, 162, 172, 173, 199 Emphysema 4, 91, 143, 170, 172, 184,

200, 202, 204

Endocarditis 2, 16, 45, 46, 52, 54, 57, 61, 76-78, 80

Extracellular matrix (ECM) 60, 83, 95, 105, 114, 117, 131, 133-135, 143, 164, 166, 170, 171, 181, 183, 184, 199, 203, 204

F

FAA1 117, 119

Familial ectopia lentis 25

135, 136, 143, 144, 146, 148, 161-163, 165-167, 169-173, 178, 179, 181, 183, 186, 192, 199, 200, 203-205

G

Genetic disease 5, 6, 101, 172

Genetic heterogeneity 4, 104, 114-117, 119

Ghent nosology 13, 18-20, 45, 47, 52, 93, 94, 98

H

Heart failure 2, 21, 46, 54, 58, 60, 71, 76, 84, 88, 90

Hip deformity 30

Homocystinuria 4, 5, 19, 20, 24, 40, 41 Homograft aortic root 70, 73, 74, 78, 80 Hurler syndrome 4

Hyperlysinemia 40

I

Idiopathic cystic medial necrosis 6, 7 Iris 35, 36, 38, 39

Iris hypoplasia 38

J

Joint manifestations 31

K

Keratometry 37

Kniest dysplasia 39

Kyphosis 27-29, 201

L

Latent transforming growth factor-beta binding proteins (LTBPs) 136, 144, 148, 171, 173, 183-185, 188, 199, 203, 204, 206

Lens dislocation 5, 13, 16, 21, 36-39, 94, 96, 97

Lensectomy 40, 42

M

Macroaggregate 199, 200, 203 Magnetic resonance imaging (MRI) 13,

15, 16, 26, 27, 59, 63, 65, 70, 72, 80, 97, 98

MAGP-1 132, 136, 138, 148, 161-169, 172, 173

MAGP-2 136, 161-168, 173 Malattia Leventinese 172

Marfan syndrome 1-10, 13-21, 24-32, 35, 36, 39, 40, 42, 45, 58, 81-83, 85, 90, 91, 93, 95, 96, 101, 113-116, 123-126, 130, 144, 146, 154, 155, 170, 172, 178, 180-186, 188, 199, 207, 209-212

MASS phenotype 19, 20, 25 Metalloproteinases (MMPs) 36, 114,

143, 144, 157, 201-203, 205-207 Methods 5, 41, 45, 95, 130, 134, 155,

178, 191 MFS2 114, 117-119

Microfibril 8, 35, 36, 45, 95, 105, 108, 110, 130-133, 135-139, 143-157, 161-173, 178-185, 188-190, 192, 195, 199-204, 206

Microfibril bundle 144, 146, 150-152, 157

Microfibril-associated proteins (MFAPs) 136, 144, 162, 167, 168, 172, 173, 199

Missense mutation 36, 104, 105, 108, 110, 172, 180, 185, 188, 191-197 Mitral valve 2, 4, 13, 15, 16, 19-21, 24,

45, 46, 50-52, 54, 57-59, 61, 62, 64, 71, 73, 74, 76, 78, 82-85, 91, 101, 126, 173

Mitral valve prolapse 4, 13, 15, 16, 19-21, 24, 45, 50-52, 54, 58, 59, 61, 64, 83, 101, 126, 173

Molecular biology 10 Molecular packing 150, 152

Morphogenesis 127, 148, 183, 203, 204 Mouse models 128, 131, 138, 200, 201,

205-207

Mutation 3-5, 6, 8, 9, 15, 17, 18, 20, 21, 24, 31, 36, 45, 52, 53, 60, 93-98, 101-110, 114-116, 118, 119, 123, 126-128, 130-136, 138, 139, 144, 172, 173, 178-181, 183, 185, 188, 191-197, 199, 200, 202, 203

Mutation analysis 18, 95, 97, 98, 123 Myopia 5, 13, 14, 16, 19, 20, 35, 37-39

N

National Marfan Foundation (NMF) 8, 9, 186, 213

Neonatal Marfan syndrome 21, 24, 125, 126, 183

Newborn 16-18

Nonsense mutation 36, 104, 108-110

O

Osseous scalloping 25

Osteogenesis imperfecta 4

P

PDA1 119

Periodicity 144, 147-157, 162, 169, 170 Peroxisome proliferator activated

receptor-γ (PPAR-γ) 114 Pes planovalgus 32

Pierre Robin 40

Pleiotropism 3, 4

Pregnancy 17-19, 45, 58-61, 98 Propanolol 60, 61

Proprotein proteases 133 Protein-protein interaction 108, 188,

189, 192, 194

Proteoglycan 136, 137, 144, 148, 162, 166, 169, 170, 172, 173, 203

Pseudoxanthoma elasticum (PXE) 4 Pulmonary valve 50

R

Refraction 5, 14, 37, 41, 42 Refsum syndrome 40 Retina 14, 18, 38

Retinal detachment 16, 36, 37, 39-42

S

Scoliosis 1, 5, 13, 15-17, 20, 24, 27-29, 115, 123-126, 173

Shprintzen-Goldberg craniosynostosis syndrome 21

Smooth muscle cells (SMCs) 61, 90, 114, 130, 134, 137, 145-148, 151, 169, 170, 172, 200, 202, 203, 206

Splice mutation 102, 108, 109 Spondylolisthesis 28

Stanford classification 54, 71, 72, 113 Stickler syndrome 19, 25, 40

Sudden death 45, 46, 54, 58, 62, 78 Supramolecular architecture 147, 153,

154

Supravalvular aortic stenosis (SVAS) 172, 199, 200

Syndactyly 127, 128, 183, 203 Synpolydactyly 172

T

TAAD1 116, 117, 119 TAAD2 117-119

TGFβ 144, 173, 183-185, 189, 199, 204, 206

Tight skin (Tsk) 139, 201-203

Tissue inhibitors of MMPs (TIMPs) 114 Tricuspid valve 50, 51, 83, 88, 126 Type-1 fibrillinopathies 20, 101

V

Valve-sparing operation 70, 73, 79-81, 91

Visual acuity 36, 37, 42

W

Weill-Marchesani syndrome 40, 178

X

X-ray diffraction 147, 148, 153-155, 157

Z

Zonular bundle 147

Zonule 35, 36, 38, 42, 136, 143, 144, 146, 148-151, 153-155, 157, 162, 163, 166-169, 178, 181

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