IllnessAortectasia, thoracic (EBM 11448)

NGS +

[Sanger]

Thoracic aortic aneurysms (TAA) are often associated with genetic causes and are divided into those affecting the ascending aorta (60%), the aortic arch (10%), the descending aorta (40%) and the thoracoabdominal aorta (10%). TAA that occur at a young age without significant cardiovascular risk factors are usually stratified into syndromic disorders (e.g. Loeys-Dietz, Marfan and Ehlers-Danlos syndrome, etc.) with extravascular organ involvement and apparently isolated, non-syndromic disorders (familial TAA forms without and with persistent ductus arteriosus, Loeys-Dietz syndrome variants). Aortic abnormalities can occur at any age and vary even within the same family. Detection rates vary widely depending on the above categories, from 15 in familial TAAs to 90-95% (classic Marfan and Loeys-Dietz syndromes). Penetrance rates and expressiveness vary, sometimes considerably, depending on genetic causes. An inconspicuous genetic finding does not therefore mean that the clinical suspected diagnosis can be excluded with certainty.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1120/

• NOT EBM 11448: Familial thoracic aortic aneurysm, aortic dissection (EFEMP2, FOXE3, MFAP5)
• Alias: Aortic aneurysm, familial thoracic [EBM]
• Alias: Familial TAAD [EBM]
• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: MASS syndrome (FBN1)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 (MYLK)
• Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MYH11)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Visceral myopathy 2 (MYH11)
• Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
• Aortic aneurysm, familial thoracic 4 (MYH11)
• Aortic aneurysm, familial thoracic 7 (MYLK)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Fam. thoracic aortic aneurysm, aortic dissect. (COL3A1, FBN1, MYH11, MYLK, SMAD3, TGFB2, TGFBR1, -2)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR2)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Marfan syndrome (FBN1)
• Polymicrogyria with/-out vascular-type EDS (COL3A1)