| Literature DB >> 30833837 |
Bradley S Kane, Kamran Shamsa.
Abstract
Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.Entities:
Keywords: Aneurysm, dissecting/genetics; Loeys-Dietz syndrome/diagnosis/genetics/pathology/therapy; aortic aneurysm, thoracic/genetics; genetic predisposition to disease; practice guidelines as topic; receptors, transforming growth factor beta/genetics; risk factors
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Year: 2019 PMID: 30833837 PMCID: PMC6379001 DOI: 10.14503/THIJ-17-6387
Source DB: PubMed Journal: Tex Heart Inst J ISSN: 0730-2347