Ehlers–Danlos syndrome

Ehlers–Danlos syndrome is a collective term for a group of connective tissue diseases, which are characterized by hypermobile joints, connective tissue disorders and skin hyperextensibility. From a genetic point of view, it is a heterogeneous group of diseases caused by mutations in several different genes (coding for selected collagen subunits). The inheritance of the classical form of the disease is autosomal dominant (OMIM 130000).


In the vascular system, this syndrome can manifest itself by the involvement of the ascending aorta, in which aneurysms and dissection can occur.

References

Used literature

  • KLENER, Pavel. Vnitřní lékařství. 4. edition. 2011. 1174 pp. ISBN 978-80-7262-705-9.