Maffucci Syndrome May Be a Heritable Thoracic Aortic Disease and a Cause of Aortic Dissection

Scott D Eisenberg; Kim M Thompson; Muhammad Naeem; Neal L Weintraub; Bradley G Leshnower; Ayman N Abunimer; Michael A Winkler

doi:10.1016/j.jaccas.2024.102496

Maffucci Syndrome May Be a Heritable Thoracic Aortic Disease and a Cause of Aortic Dissection

JACC Case Rep. 2024 Sep 4;29(17):102496. doi: 10.1016/j.jaccas.2024.102496.

Authors

Scott D Eisenberg¹, Kim M Thompson², Muhammad Naeem³, Neal L Weintraub⁴, Bradley G Leshnower⁵, Ayman N Abunimer³, Michael A Winkler³

Affiliations

¹ Department of Internal Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
² Department of Family and Preventive Medicine, Emory University School of Medicine, Atlanta, Georgia, USA.
³ Department of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, Georgia, USA.
⁴ Division of Cardiovascular Medicine, Medical College of Georgia at Augusta University, Augusta, Georgia, USA.
⁵ Division of Cardiothoracic Surgery, Emory University School of Medicine, Atlanta, Georgia, USA.

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.

Keywords: CTA; HTAD; Maffucci; aneurysm; aorta; computed tomographic angiography; dissection; genetic; heritable thoracic aortic disease; pregnancy.

Publication types

Case Reports