A Complex Case of Loeys-Dietz Syndrome: A Case Report and Review of the Literature.
| Autor: | Caza TN; State University of New York Upstate Medical University - Pathology., Mercedes A; University of Nevada Las Vegas - Cardiology., Stoppacher R; Onondaga County Medical Examiner's Office., Catanese CA; Onondaga County Medical Examiners Office - Pathology. |
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| Jazyk: | angličtina |
| Zdroj: | Academic forensic pathology [Acad Forensic Pathol] 2016 Dec; Vol. 6 (4), pp. 731-738. Date of Electronic Publication: 2016 Dec 01. |
| DOI: | 10.23907/2016.069 |
| Abstrakt: | Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder with a genetic predisposition to aneurysm formation and congenital cardiofacial defects through genetic mutation affecting the transforming growth factor-beta (TGFβ) signaling pathway. We present a case of a 6-year-old female patient with Loeys-Dietz syndrome who developed an annular aortic valve abscess and ascending aortic dissection due to Staphylococcus aureus endocarditis. Within this case, multiple complications from Loeys-Dietz syndrome were identified, including prosthetic valve infection, aneurysm formation and dissection, septic embolism, and aspiration pneumonia. The clinical presentation, pathologic findings, and pathophysiology will be discussed. Competing Interests: DISCLOSURES & DECLARATION OF CONFLICTS OF INTEREST This work was presented at the 2016 NAME Annual Meeting. The authors, reviewers, editors, and publication staff do not report any relevant conflicts of interest |
| Databáze: | MEDLINE |
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