Klinische FragestellungAortenerweiterung, thorakale; Differentialdiagnose

NGS +

[Sanger]

Gefäß-Erkrankung, die eines oder mehrere Segmente der Aorta betrifft: Wurzel, aufsteigende, Bogen oder absteigende Aorta. Abhängig von Größe, Lokalisation, Progression der Dilatation/Dissektion, können die Patienten asymptomatisch sein oder Dyspnoe, Husten, Kiefer-, Nacken-, Brustkorb-/Rückenschmerzen haben sowie Ödeme am Kopf, Hals/obere Gliedmaßen, Schluckschwierigkeiten, heisere Stimme, bleiche Haut, schwachen Puls und/oder Gefühllosigkeit/Kribbeln in den Gliedmaßen. Hohes Risiko für lebensbedrohende Aortenruptur!

• Alias: Aortic aneurysm, familial thoracic
• Alias: Familial TAAD
• Alias: Familiäre TAAD
• Alias: Heritable thoracic aortic aneurysm or dissection, HTAD
• Alias: Thoracic aortic aneurysm or dissection, TAD
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
• Allelic: Caffey disease (COL1A1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Colorectal cancer, somatic (FLCN)
• Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
• Allelic: Ectopia lentis et pupillae (ADAMTSL4)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Ectopia lentis, isolated, AR (ADAMTSL4)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: Leukemia, Philadelphia chromosome +, resistant to imatinib (ABL1)
• Allelic: MASS syndrome (FBN1)
• Allelic: Macular degeneration, age-related, 3 (FBLN5)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
• Allelic: Moyamoya disease 5 (ACTA2)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Multisystemic smooth muscle dysfunction (ACTA2)
• Allelic: Neuropathy, hereditary, +/- age-related macular degeneration (FBLN5)
• Allelic: Opitz-Kaveggia syndrome (MED12)
• Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
• Allelic: Polymicrogyria with or without vascular-type EDS (COL3A1)
• Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
• Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
• Allelic: Spondyloepimetaphyseal dysplasia, XL (BGN)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Supravalvar aortic stenosis (ELN)
• Allelic: Thrombosis, hyperhomocysteinemic (CBS)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Alport syndrome 1, XL (COL4A5)
• Aortic aneurysm, familial thoracic 10 (LOX)
• Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Aortic aneurysm, familial thoracic 4 (MYH11)
• Aortic aneurysm, familial thoracic 6 (ACTA2)
• Aortic aneurysm, familial thoracic 7 (MYLK)
• Aortic aneurysm, familial thoracic 8 (PRKG1)
• Aortic aneurysm, familial thoracic 9 (MFAP5)
• Aortic valve disease 2 (SMAD6)
• Birt-Hogg-Dube syndrome (FLCN)
• Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
• Congenital heart defects + skeletal malformations syndrome (ABL1)
• Contractural arachnodactyly, congenital (FBN2)
• Cutis laxa, AD 2 (FBLN5)
• Cutis laxa, AR, type IA (FBLN5)
• Cutis laxa, autosomal dominant (ELN)
• Cutis laxa, autosomal recessive, type IB (EFEMP2)
• Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Ehlers-Danlos syndrome, classic type, 1 (COL5A1)
• Ehlers-Danlos syndrome, classic type, 2 (COL5A2)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
• Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Familial thoracic aortic aneurysm, aortic dissection (FOXE3, MFAP5)
• Homocystinuria, B6-responsive + nonresponsive types (CBS)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Lujan-Fryns syndrome (MED12)
• Marfan syndrome (FBN1)
• Meester-Loeys syndrome (BGN)
• Ohdo syndrome, XL (MED12)
• Pneumothorax, primary spontaneous (FLCN)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• VISS syndrome (IPO8)