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Index
A
Abraham, 62, 73
accounting, 25
acute aortic dissection, vii, x, 1, 4, 49, 56,
58, 66, 67, 80
AD, x, 18, 20, 56
adulthood, 31
adults, 20, 48, 57, 81
adventitia, 58
age, viii, 2, 4, 8, 13, 14, 15, 38, 57, 69
allele, 33, 60
alpha actin gene, ix, 56, 65
alters, 38, 51
American Heart Association, 19, 44, 54, 74
amino, 35, 63
amino acid(s), 35, 63
anatomy, 2, 13, 19, 20, 45, 70
Anderson syndrome, ix, 56, 65, 70
aneurysm, vii, ix, x, 1, 3, 4, 7, 8, 9, 13, 14,
19, 21, 24, 25, 27, 31, 32, 33, 38, 39, 40,
42, 48, 50, 51, 53, 54, 55, 57, 59, 60, 61,
62, 64, 66, 67, 69, 70, 76, 77, 78, 79, 80,
81
angiogenesis, 74
angiotensin converting enzyme, 40
angiotensin II, 33, 40, 51
anticoagulation, 16
aortic insufficiency, 17
aortic pathology, vii, 1, 35
aortic regurgitation, 4, 9, 13, 14, 15, 18, 19,
20, 81
aortic stenosis, vii, 1, 2, 14, 20, 81
aortic valve disease, vii, 1, 17, 18, 19, 20,
21, 43, 45, 46, 53, 54, 74, 75, 76
aortic wall, viii, ix, x, 2, 3, 4, 5, 6, 7, 8, 10,
12, 19, 20, 29, 30, 33, 36, 37, 38, 44, 55,
56, 57, 58, 59, 64, 65, 67, 68, 70, 76
aortopathologies, vii, x, 57
apoptosis, 7, 71, 80
apoptosis pathways, 71
arterial dissection, ix, 55
arterial hypertension, 59
artery(s), 6, 32, 57, 58, 59, 60
arteriosclerosis, 59
ascending aorta disease, viii, 2, 7
ascending thoracic aortic aneurysm, vii, x,
57, 61
assessment, 9, 10, 42
asymmetry, 7
asymptomatic, 17
atherosclerosis, 52, 59, 68
atrial septal defect, 30, 46
atrophy, 7, 8
autopsy, 81
autosomal dominant, ix, 24, 31, 39, 56, 62,
64, 76
autosomal recessive, 60
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Index
84
B
Baars, 53
base, 34
BAV, vii, viii, ix, x, 1, 2, 3, 4, 5, 6, 7, 8, 9,
11, 12, 13, 14, 15, 16, 17, 23, 24, 25, 26,
27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37,
38, 39, 40, 41, 42, 50, 56, 57, 58, 64, 65,
66, 68, 69, 70, 72
BAV-related aortic disease, viii, 2, 7
B-catenin, 29
Belgium, 55
Bentall operation, viii, 2, 13, 14, 16
bicuspid, viii, ix, 2, 4, 6, 9, 17, 18, 19, 20,
21, 29, 30, 31, 33, 35, 37, 38, 43, 44, 45,
46, 47, 48, 49, 50, 51, 52, 53, 54, 56, 61,
62, 70, 73, 74, 75, 76, 77, 78, 79, 80, 81,
82
bioavailability, 33, 66
biomarkers, 26, 50
biomechanics, 51
births, 62
blood, 25, 52, 59, 72
blood flow, 25, 52, 72
blood vessels, 59
bone, 61
bottom-up, 26, 31
brainstem, 31
C
Ca
2+
, 76
calcification, 30, 40, 70
calcium, 63
candidates, 33
cardiac arrhythmia, 32
cardiac surgeons, viii, 2
cardiogenic shock, 11
cardiovascular disease, 25, 48
cardiovascular system, 38, 45, 52
cation, 76
causality, 72
causation, 27, 41
cell death, 71
cell differentiation, 59
cell line(s), 28, 81
cerebral aneurysm, 32
challenges, 39, 49
chicken, 52
childhood, 5, 61, 62
children, 18, 43, 46, 50
chromosome, 36, 60, 62, 63, 65, 70
chromosome 10, 65
circulation, 15, 50
classification, 8, 52, 58, 72, 79
cleft palate, 32, 59, 70
clinical diagnosis, 62
clustering, 43, 77
clusters, 70
coarctation, ix, 2, 3, 4, 24, 25, 31, 32, 56,
61, 62, 65
coherence, 70
collaboration, 74
collagen, 7, 50, 60, 61
community, 17
complex interactions, 31
complexity, 7, 25, 26, 66
complications, viii, 2, 3, 6, 9, 11, 12, 15, 16,
18, 20, 23, 24, 37, 39, 40, 42, 43, 54, 59
composition, 50
comprehension, 3
computed tomography, 11
configuration, 60, 77
congenital heart disease, 24, 30, 43, 46
connective tissue, 5, 59, 60, 61, 62, 63, 66,
70, 72
consensus, 63
control group, 6
controversial, 36, 66, 70
controversies, vii, 1
coronary artery disease, 32, 76
correlation(s), 39, 40, 42, 44, 64, 66, 67, 70
CT, 11, 12, 48
cysteine, 63
D
database, 6
decay, 60
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Index
85
defects, ix, 24, 25, 28, 30, 31, 32, 46, 56, 60,
65, 67
deficiency, 7
degradation, 7, 65, 80
deprivation, 58
desorption, 72
destruction, 58
detachment, 62
detectable, 67
detection, 67
detection system, 67
diabetes, 59
diagnostic criteria, 74
diastole, 10
differential diagnosis, 11
dilatation, vii, viii, 1, 2, 4, 5, 6, 7, 8, 9, 17,
19, 32, 33, 37, 38, 44, 47, 48, 49, 50, 51,
61, 62, 70, 73, 75
dilation, viii, 2, 3, 4, 5, 6, 7, 9, 11, 12, 14,
16, 17, 18, 44, 48, 53, 54, 57, 58, 61, 65,
66, 70, 72, 73, 76, 77
disease progression, 7
diseases, 2, 3, 6, 19, 57, 58, 59, 62, 63, 66,
72, 75
disorder, viii, 2, 5, 9, 24, 31, 60, 61, 62, 73
distribution, 6, 29, 72, 81
DNA, 34, 63, 64
ductus arteriosus, 24, 37
durability, 20
E
EAE, 19
echocardiogram, 20
ECM, 40, 70
ectoderm, 78
Ehlers-Danlos syndrome, 32, 74, 78, 82
elastin, 7, 40, 63, 65, 73
e-mail, 1
embryogenesis, ix, 56, 65
embryology, 9
emergency, 11
encoding, ix, 30, 33, 48, 56, 63, 70
end stage renal disease (ESRD), 60
endocarditis, vii, 1, 2, 16
endocrinology, 47
endoderm, 78
endothelial cells, 38, 45
endothelium, 38, 52
enlargement, 16
enzyme(s), 54, 63
epithelial cells, 60
ethnicity, 35
etiology, vii, ix, 7, 56, 65, 70
evidence, 2, 5, 25, 31, 34, 36, 37, 38, 39, 41,
66
examinations, 10
execution, 11
exposure, 25
expressivity, 25, 40
extracellular matrix, ix, 6, 7, 8, 40, 56, 63,
64, 80
F
facies, 32
families, vii, viii, 23, 24, 25, 26, 30, 33, 34,
35, 36, 41, 61, 74
family history, 4, 25, 41
family members, ix, 37, 41, 42, 56
family studies, 27
fibers, x, 3, 7, 8, 56, 57, 63, 68
fibrillin-1, ix, 7, 37, 47, 48, 56, 63, 70, 75
fibroblasts, 67
fibrosis, 54, 68
first degree relative, 4
flow alterations, vii, 1
fluid, 52
force, 51, 72
formation, x, 27, 28, 30, 31, 40, 44, 53, 54,
56, 57, 59, 60, 63, 64, 65, 66, 69, 70
formula, 8
fractures, 61
fragility, 7
fragments, 64
freedom, viii, 2, 13
functional analysis, 35
functional changes, 45
fusion, 7, 28, 29, 38, 50, 51, 53, 59, 65, 80
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Index
86
G
gene expression, 5, 37, 38, 40, 51, 53, 67,
71
genes, 26, 27, 28, 30, 31, 32, 33, 34, 35, 36,
37, 38, 41, 42, 46, 49, 52, 59, 61, 70, 72,
73, 80
genetic defect, ix, 55
genetic factors, 38, 59
genetic linkage, 34
genetic predisposition, 3
genetic screening, vii, ix, 24
genetic syndromes, 30, 61
genetic variants, viii, 23, 41
genetics, ix, 24, 25, 26, 39, 41, 43, 44, 46,
47, 48, 49, 50, 51, 56, 81
genome, vii, viii, ix, 23, 33, 34, 35, 56, 64
genomics, 81
genotype, 35, 39, 40, 42, 60
genotyping, 35
geometry, 52
Germany, 55
glucose, 60, 74
glycine, 61
glycoproteins, 63
Gori, 81
grading, ix, 56, 68, 79
growth, 12, 50, 51, 57, 59, 63, 81
growth factor, 51, 63
growth rate, 50
guidelines, 6, 9, 19, 41, 74
H
haemodynamic factors, ix, 24, 27
haplotypes, 49, 65, 82
health, 65
health risks, 65
hearing loss, 32
heart disease, 19, 79, 82
heat shock protein, 79
height, 81
hemodynamic effects, vii, 1
heritability, viii, ix, 23, 24, 25, 41, 43, 56,
64
heterogeneity, 24, 25, 30, 35, 70, 76
high blood pressure, 4, 8, 59
histology, ix, 19, 56
history, vii, 1, 4, 17, 19, 20, 38, 44, 61
HM, 44, 53
human, vii, 1, 27, 29, 30, 31, 38, 40, 45, 47,
48, 75
human subjects, 31
Hunter, 43, 77
hyperactivity, 64
hyperlipidemia, 59
hypertelorism, 32, 59
hypertension, 4, 62
hypertrophy, 19
hypogonadism, 81
hypoplasia, ix, 56, 65
hypotension, 11
hypothesis, 7, 25, 28, 29, 30, 33, 39
I
identification, viii, 23, 26, 31, 33, 41, 42, 79
image, 79
image analysis, 79
immune response, 64
in utero, 25, 38
in vitro, 34, 71
in vivo, 7
incidence, viii, ix, 2, 4, 9, 12, 15, 30, 31, 38,
39, 56, 64, 79
individual differences, 40
individuals, 25, 36, 39, 48, 61
infants, 61
infection, 58
inflammation, 58, 64, 71
inheritance, viii, ix, 23, 24, 25, 34, 36, 44,
56, 64, 82
inhibition, 40, 71
inhibitor, 40, 60
injury, 8
inner ear, 46
insertion, 54
insulin, 51
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Index
87
integration, 42
intervention, 39
intima, 66, 71
intracranial aneurysm, 6
ionization, 72
isolation, 25
Italy, 1
J
jaundice, 32
joints, 32, 62
K
kidney, 61
L
latency, 64
lead, 7, 16, 29, 60, 63, 66
left ventricle, 57
left ventricular outflow, ix, 43, 56, 65, 82
lesions, 62
life expectancy, 62
ligand, 30
light, 61
linkage analyses, vii, viii, 23
liver, 61
loci, 61
locus, 36, 60, 65, 76
lumen, 10, 58
lung disease, 32
lymphocytes, 64
M
macrophages, 64, 67
magnetic resonance, 11, 51, 71
magnetic resonance imaging, 51, 71
majority, 25, 41
management, vii, viii, 1, 2, 9, 11, 19, 21, 44,
54, 74
mapping, 76
Marfan syndrome, v, viii, ix, 23, 32, 33, 37,
47, 48, 49, 50, 55, 62, 63, 64, 66, 69, 73,
74, 75, 77, 79, 80, 81
mass, 72
mass spectrometry, 72
matrix, 18, 19, 27, 33, 47, 50, 53, 54, 64, 66,
72, 75, 77, 80, 82
matrix metalloproteinase, 33, 50, 53, 54, 66,
77, 80
MB, 52
measurement, 10, 67
mechanical stress, 63, 70
media, 3, 6, 8, 10, 57, 65, 67, 69
median, 6
medical, 43, 44, 46, 49, 50
medicine, 41, 49, 51, 52, 53
mellitus, 59
Mendelian pattern, viii, ix, 23, 56, 64
mesenchyme, x, 30, 56, 65
mesoderm, 28
messenger RNA, 40
meta-analysis, 48
metabolism, 61
metalloproteinase, 7, 63, 77
methodology, 34, 79
MFS, ix, x, 55, 56, 57, 62, 63, 64, 68, 69, 70
mice, ix, 29, 30, 38, 40, 45, 46, 47, 56, 65,
77, 78
microRNA, 41
migration, 59
mitral valve, ix, 9, 56, 62, 65
mitral valve prolapse, 62
MMP(s), 33, 38, 48, 66, 67, 79
MMP-2, 48, 67
MMP-9, 48, 67
modelling, 34, 41
models, 30, 31, 34, 36, 40, 67
modifications, 66
molecular biology, 44
molecular medicine, 53
molecules, 40
monosomy, 62
monozygotic twins, 24
Moon, 20, 21, 43, 78
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Index
88
morbidity, viii, 2, 66
morphogenesis, 60
morphology, 51, 52, 53, 71
mortality, viii, 2, 14, 15, 18, 21, 62, 67
mortality rate, 67
motivation, 31
MR, 18, 20, 21, 43, 44, 46, 52
MRI, 47, 73
mRNA, 60, 65, 67
mutant, 60
mutation(s), ix, 26, 29, 30, 31, 32, 33, 34,
35, 37, 39, 41, 42, 46, 47, 48, 50, 51, 56,
59, 60, 61, 62, 63, 65, 70, 73, 75, 78, 80,
82
myocardial infarction, 11, 54
myocardium, 27
myosin, 37, 51, 61
N
National Academy of Sciences, 54
necrosis, 8, 37, 58, 65, 68, 69
Netherlands, 44, 55
next-generation sequencing, vii, viii, 23
nitric oxide, x, 29, 45, 56, 65, 78, 80
nitric oxide synthase, x, 29, 45, 56, 65, 78,
80
nodules, 70
nuclear magnetic resonance, 7
nucleotides, 40, 65
nucleus, 64
null, 47
nutrients, 58
O
obstruction, 43, 82
occlusion, 59
operations, viii, 2, 57, 65
opportunities, 77
organ(s), 52, 59, 62, 63
Osteogenesis, 61
osteogenesis imperfecta, 82
oxygen, 58
P
pacemaker, viii, 2, 15
pain, 11
parallel, 34
paralysis, 32, 70
patent ductus arteriosus, 51
pathogenesis, vii, x, 3, 5, 29, 30, 31, 33, 34,
35, 57, 59, 64, 66, 70, 72, 78, 80
pathology, vii, x, 1, 13, 14, 16, 26, 27, 35,
46, 47, 51, 57
pathophysiological, 25
pathophysiology, 3, 24, 44, 46, 47, 52, 75
pathways, 26, 28, 30, 31, 41
PCR, 34, 67
pediatrician, 62
pedigree, 70
penetrance, ix, 24, 25, 29, 30, 35, 56, 64
peptides, 64
perfusion, 7
phenotype(s), viii, 6, 8, 9, 23, 25, 26, 27, 28,
29, 30, 33, 35, 36, 37, 38, 39, 40, 41, 42,
48, 50, 51, 61, 73
phosphorylation, 53, 64, 76
physiology, 7, 45
pilot study, 53
plausibility, 30
playing, 63
PM, 51
pneumothorax, 11, 62
point mutation, 63
polycystic kidney disease, 76
polymerase, 34
polymerase chain reaction, 34
polymorphism(s), 26, 33, 40, 54
population, vii, 1, 2, 4, 9, 13, 14, 24, 31, 35,
36, 40, 47, 64, 73
potassium, ix, 34, 56, 65, 70
potential benefits, 41
primary school, 43
probands, 24, 25
progenitor cells, 45
prognosis, 42, 72
project, 35, 43
proliferation, 59
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