Ali Alakhfash, Abdullah Alqwaiee, Abdulrahman Almesned, Zuhair N. Al-Hassnan
Prince Sultan cardiac Center-Qassim. Sapienza Università di Roma. King Faisal Specialist Hospital & Research Centre.
Saudi Arabia and Italy
European Heart Journal Case Reports
Eur Heart J Case Rep 2021; 22:
DOI: 10.1093/ehjcr/ytab261
Abstract
Background: Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies. They can result in right-to-left shunt and, if significant, low systemic saturation, cyanosis, polycythaemia, and paradoxical systemic embolization.
Case summary: Eighteen months old female child was referred to our centre due to unexplained central and peripheral cyanosis. Based on the agitated saline contrast echocardiography study, computed tomography scan confirmed the presence of abnormal vasculature at the left lower lobe. Percutaneous closure of the PAVM was performed using Amplatzer Duct Occluder type 1 device. The genetic study revealed a pathogenic mutation in the endoglin gene, which is a known cause of hereditary haemorrhagic telangiectasia (HHT) inhered in an autosomal dominance pattern.
Discussion: PAVM could be the first manifestation of HHT. Closing the malformation percutaneously is feasible, which can eliminate the right to left shunt and improves the saturation. Genetic study is warranted in these cases, as well as long-term follow-up.
Category
Pulmonary Arteriovenous Malformations
Genetic Factors Associated with Pulmonary Vascular Disease
Surgical and Catheter-mediated Interventions for Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes