Treatment of cardiovascular disease in patients with hereditary hemorrhagic telangiectasia - a neglected challenge

Manuel Rattka (Essen)1, C. Jungen (Essen)1, I. M. Rudolph (Essen)1, E. Mavrakis (Essen)1, T. Rassaf (Essen)1, S. Mathew (Essen)1

1Universitätsklinikum Essen Klinik für Kardiologie und Angiologie Essen, Deutschland


Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant inherited disease characterized by the presence of telangiectasias and arteriovenous malformations. These are often associated with severe, potentially life-threatening bleeding. HHT patients with cardiac diseases, such as acute coronary syndrome (ACS) or atrial fibrillation (AF), depend on the use of antiplatelet therapy or anticoagulants. However, their use in HHT patients raises concerns due to the bleeding risk. Currently, there is  no study  evaluating outcomes of HHT patients hospitalized for cardiovascular diseases.
Our aim was to characterize HHT patients who were hospitalized due to cardiac disease. 
HHT patients who were hospitalized at the West German Heart and Vascular Center between January 2014 and August 2023 were retrospectively included. The diagnosis of HHT was established if 3 of 4 Curacao criteria were met. HHT-specific characteristics, cardiological diagnoses at admission, and patients’ clinical course were analyzed. 
Out of 39 HHT patients who presented during the observation period, 19 were hospitalized. The patients had a median age of 67 [62;76] years, and 69% were female. All patients suffered from epistaxis. 37% of the patients reported at least one gastrointestinal bleeding event. 21% of the patients had already received blood transfusions due to anemia.
Symptomatic AF led to admission in 42% (8 patients), followed by ACS (37%; 7 patients), and hydropic decompensation due to severe AV valve regurgitation (21%, 4 patients). Patients with AF were managed by rate control strategy in 7 cases, while 1 patient underwent pulmonary vein isolation (PVI). No anticoagulation was prescribed for the four patients with a Class IIa indication for anticoagulation. Among patients with a Class Ia indication, one received rivaroxaban, while three underwent left atrial appendage (LAA) occluder implantation due to previous severe bleeding events, followed by a time-limited dual antiplatelet therapy (DAPT). There were no relevant bleeding events in AF patients. 
Patients with ACS underwent coronary angiography during the course. Peri-interventional administration of heparin was tolerated adequately. While four patients were found to have no coronary artery disease, three received percutaneous coronary intervention. Under subsequent DAPT, all patients experienced severe epistaxis with a decrease in serum hemolgobin of > 1g/dl, requiring a switch to monotherapy with aspirin. All patients with hydropic decompensation due to severe AV valve regurgitation were conservatively treated. Interventional therapy was not performed due to the HHT-associated increased bleeding risk. 
The treatment of cardiac diseases in HHT patients is challenging, particularly due to limited experience and the difficult-to-assess bleeding risk. In addition, cardiac interventions,  such as pulmonary vein isolation and percutaneous repair of AV valves, seem to be performed rarely. Further insights in this field are necessary to improve the treatment of cardiac diseases in HHT patients.
Diese Seite teilen