Maffucci Syndrome May Be a Heritable Thoracic Aortic Disease and a Cause of Aortic Dissection
Year: 2024
Type: article
Study design: Case Report
Abstract: A woman with Maffucci syndrome (MS) presented post partum with type B aortic dissection leading to rupture of a thoracoabdominal aneurysm. Results of multiple-gene testing for heritable thoracic aortic disease were negative. Although conjectural, this patient's aortic disease may be related to MS, and surveillance for aortic disease in patients with MS may be appropriate.
Source: JACC Case Reports
Authors: Scott D. Eisenberg, Kim M. Thompson, Muhammad Naeem, Neal L. Weintraub, Bradley G. Leshnower, Ayman N. Abunimer, Michael A. Winkler
Institutions: Emory University, Augusta University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $850
OpenAlex ID: W4402216433