Familial thoracic aortic aneurysm and dissection syndrome
- Cardiovascular disorder with autosomal dominant transmission presents with aortic disease similar to that of Marfan syndrome, but with no other phenotypic abnormalities associated with marfanoid syndromes
- 3 variants of the disease are recognized: one without other cardiovascular abnormalities, another with associated bicuspid aortic valve, and a third with associated patent ductus arteriosus
- Common cardiovascular disease includes aortic aneurysm and dissection occurring either at sinuses of Valsalva or further up in the ascending thoracic aorta
- Differentiated by clinical presentation (eg, absence of typical Marfan features) and molecular tests
- Definitive diagnosis relies on echocardiography to assess cardiovascular disease and genetic testing to identify mutations in ACTA2, TGFBR1, TGFBR2, MYLK, SMAD3 (found in the form with bicuspid aortic valve and aortic calcification/stenosis), or MYH11 (found in the form characterized by patent ductus arteriosus), along with absence of other marfanoid features (eg, condition does not fulfill Ghent criteria, absence of any established FBN1 pathologic variant)
