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.