Eisenmenger syndrome complicated by hemorrhagic hereditary telangiectasia: Unique intersection of hemorrhage, cyanosis, and thrombosis

Authors

• Frazer A. Tessema, Section of Cardiology, Department of Medicine, University of Chicago, Chicago, Illinois, USA. Electronic address: ftessema@uchicagomedicine.org.
• Madhusudan Ganigara, Advocate Health - MidwestFollow
• Orly Leiva, Section of Cardiology, Department of Medicine, University of Chicago, Chicago, Illinois, USA; University of Kentucky College of Medicine and Gill Heart & Vascular Institute, Lexington, Kentucky, USA.
• Kenneth S. Cohen, Section of Hematology/Oncology, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
• Gene Kim, Section of Cardiology, Department of Medicine, University of Chicago, Chicago, Illinois, USA.
• Luis Landeras, Department of Radiology, University of Chicago, Chicago, Illinois, USA.
• Stephen G. Pophal, Advocate Health - MidwestFollow
• Michael G. Earing, Advocate Health - MidwestFollow

Recommended Citation

Tessema FA, Ganigara M, Leiva O, et al. Eisenmenger Syndrome Complicated by Hemorrhagic Hereditary Telangiectasia: Unique Intersection of Hemorrhage, Cyanosis, and Thrombosis. JACC Case Rep. Published online June 19, 2026. doi:10.1016/j.jaccas.2026.108779

Abstract

Background: Eisenmenger syndrome is an intracardiac, right-to-left shunt reversal due to a congenital defect. It can rarely co-occur alongside other noncardiac congenital abnormalities.

Case summary: A patient with known Eisenmenger syndrome secondary to a large unrepaired ventricular septal defect with concurrent genetically confirmed hereditary hemorrhagic telangiectasia (HHT) presented with acute gastrointestinal bleed. Multiple subspecialists managed the patient's unique medical challenges of ongoing hemorrhage, cyanosis, and risk for thrombosis. Diagnostic work-up included imaging to visualize arteriovenous malformations and right heart catheterization. Medical management included administration of bevacizumab, macitentan, sildenafil, midodrine, pantoprazole, and iron.

Discussion: This case highlights the unique hematologic pathophysiology and hemodynamic challenges of both Eisenmenger syndrome and HHT.

Take-home messages: Patients with Eisenmenger syndrome and HHT are at risk for both cyanosis and bleeding-albeit by different pathophysiological mechanisms. These factors lead to complex, overlapping scenarios that can worsen both conditions in a patient dually afflicted.

Type

Article

PubMed ID

42319306