Spontane Karotisdissektion als Manifestation eines Loeys-Dietz-Syndroms Typ 1 mit unvollständiger Penetranz

We present a 39-year-old man with spontaneous carotid dissection, which can most likely be attributed to Loeys–Dietz syndrome (LDS) confirmed by molecular genetics. The very rare, autosomal dominantly inherited syndrome usually manifests in childhood with the typical triad of hyperteleorism, cleft palate/conspicuous uvula or an aortic aneurysm (98%). Aneurysms in other vessels, arterial tortuosities, and craniofacial characteristics are also typical. In the case presented, only very discrete evidence for existing connective tissue weakness could be found, so very low penetrance is assumed. In LDS, in addition to the early development of an aortic aneurysm, attention must also be paid to the development of intracranial aneurysms. Vascular changes detected as part of the advanced diagnostics must be monitored closely. Molecular genetic counseling for family members is also indicated. Our case report shows that in “spontaneous” cervical artery dissections, a congenital connective tissue weakness should always be looked for. A molecular genetic evaluation should be offered at a low threshold, as the identification of a previously unknown congenital connective tissue weakness contributes significantly to primary and secondary prophylaxis of cerebral infarction and other vascular complications.