Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Aortic dissection is an uncommon cause of stroke in young
patients, and can lead to a severe prognosis, especially if
not promptly diagnosed and adequately treated. Among the
etiologies that can underlie an arterial dissection in the
young, there are heritable connective tissue disorders
(HCTDs) with increased vascular fragility. Among
them, the Loeys–Dietz syndrome (LDS) is a recently
defined aortic aneurysm syndrome, inherited as an autosomal-
dominant disease, and caused by heterozygous
mutations in various proteins of the transforming growth
factor beta (TGF-b) pathway. We report a case of a
young woman with LDS, which had been unrecognized
until the patient presented to the emergency department
(ED) with focal neurological symptoms due to an acute
ischemic stroke secondary to aortic dissection. The diagnosis
of LDS type 2, confirmed at the molecular level,
offered the opportunity to describe and discuss several causes of arterial dissection in the young, and focus on the
underlying diseases, particularly focusing on this recently
described HCTD.