High importance
Aug 18, 2026
To present a case of a 26-year-old man with recurrent syncope and an unexpected diagnosis of pulmonary arterial hypertension (PAH) associated with pulmonary arteriovenous malformations (AVMs), suggesting a link to hereditary hemorrhagic telangiectasia (HHT).
A detailed clinical assessment was conducted, including imaging studies to identify pulmonary AVMs and hemodynamic evaluations to confirm PAH. Genetic testing may have been implied to assess for mutations linked to HHT (e.g., ALK1, endoglin, SMAD4).
The case revealed that the patient's recurrent syncope was ultimately attributed to PAH secondary to pulmonary AVMs, leading to a diagnosis of HHT, which may have been previously overlooked.
The case is singular and based on an individual patient's experience, limiting the generalizability of findings. Comprehensive genetic testing and family history assessments were not fully outlined in this report, which are critical for understanding hereditary conditions.
This case underscores the importance of recognizing the potential for PAH in patients with known or suspected HHT, particularly in younger populations. Awareness of this association is crucial for effective diagnosis and management, potentially improving patient outcomes in similar clinical scenarios.
Pulmonary arterial hypertension is a rare diagnosis and, when present with pulmonary arteriovenous malformations, a diagnosis of hereditary haemorrhagic telangiectasia should be considered. This case highlights the difficulties in this form of PH. https://bit.ly/4tAmW9R.