Heritable thoracic aortic disease (H-TAD) comprises a heterogeneous group of disorders with as a common denominator aortic aneurysm or dissection on one or several levels from the aortic annulus till the diaphragm. Depending on the presence or absence of manifestations in other organ systems, H-TAD can be further subdivided into syndromic and nonsyndromic H-TAD (NS H-TAD). For both clinical entities, multiple underlying gene defects have been identified, although we must recognize that in a substantial number of patients and families no causal mutation has been identified, defining them as "Heritable" but strictly speaking not (yet) as "Genetic.".

dx.doi.org/10.1007/978-3-319-44203-7_17, hdl.handle.net/1765/111580
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Department of Clinical Genetics

Mulder, B.J.M, van de Laar, I.M.B.H, & de Backer, J. (2016). Heritable thoracic aortic disorders. In Clinical Cardiogenetics: Second Edition (pp. 263–294). doi:10.1007/978-3-319-44203-7_17