Successful rhythm control by means of pulmonary vein isolation in a patient with hereditary hemorrhagic telangiectasia

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), also known as Osler's disease, is a rare autosomal dominant inherited disorder affecting 1 in 8000 individuals worldwide. A characteristic feature of HHT is the development of telangiectasias and arteriovenous malformations, which are often associated with severe epistaxis, as well as gastrointestinal and cerebral bleeding. Compared to the general population, HHT patients have a higher incidence of atrial fibrillation (AF), which has been associated with the presence of anemia and iron deficiency. In patients with AF, prophylactic administration of anticoagulants to prevent thromboembolic events is often necessary, but it is also associated with an increased risk of bleeding. According to current guidelines, oral anticoagulation (OAC) for a minimum of 2 months is essential after pulmonary vein isolation (PVI). Due to the increased risk of bleeding associated with OAC therapy, patients with HHT often do not receive rhythm control therapy and a rate control strategy is chosen for the treatment of AF, even though recent studies have shown that early rhythm control significantly reduces endpoints such as stroke rate or cardiovascular death. There are no reports on the implementation of rhythm control in HHT patients. 
Case report 
A 49-year-old patient with HHT presented to our outpatient clinic due to symptomatic paroxysmal AF. The diagnosis of HHT was confirmed by the presence of 3 of the 4 Curacao criteria. First diagnosis of AF was in 2013. Since then, AF had rarely occurred. The leading symptoms were palpitations with pronounced weakness (EHRA IV). However, since 2021, AF occurred weekly, leading to the presentation in February 2023. Previously, physicians refrained from performing PVI due to known HHT. After interdisciplinary discussion of the case with the patients’ Osler's disease center and exclusion of pulmonary-, gastrointestinal-, hepatic-, and cerebral vascular malformations, apixaban was prescribed for one week without occurrence of any bleeding signs. Factor Xa activity was within the normal range. Subsequently, PVI was performed using pulsed-field ablation. There were no peri- or post-interventional complications. Two months after PVI, OAC could be discontinued in presence of a CHA2DS2-VASc score of 0 points. In the follow-up examination after 6 months, the patient remained asymptomatic without any recurrence. 
We present here the first case report of a successfully performed pulmonary vein isolation in a patient with hereditary hemorrhagic telangiectasia. Although the administration of oral anticoagulants is possible in HHT patients, it is essential to assess the individual risk of bleeding. After excluding the presence of vascular malformations predisposing to bleeding events and a one-week complication-free administration of apixaban, pulmonary vein isolation could be safely and successfully performed.
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