Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Saniye Girit, Ebru Senol, Özge Karatas, Ayse Inci Yıldırım
Istanbul Medeniyet University. Göztepe Training and Research Hospital. University of Health Sciences Medical School Dr. Lutfi Kırdar Kartal Educational and Research Hospital. University of Health Sciences Medical School Kartal Kosuyolu High Speciality Educational and Research Hospital.
Turkey

Respiratory Medicine Case Reports
Respir Med Case Rep 2020; 30:
DOI: 10.1016/j.rmcr.2020.101137

Abstract
Pulmonary arteriovenous malformations (PAVM) are generally congenital lesions caused by abnormal capillary development. Lesions can be in the form of isolated anomaly or as part of autosomal dominantly inherited hereditary hemorrhagic telengiectasia (HHT). HHT is the most common hereditary vascular disease characterized by mocucutaneuos telengiectasia and visceral arteriovenous malformations. PAVMs can be asymptomatic or can present with effort dyspnea, palpitations and fatigue especially in cases with HHT. Herein, we present a 13 year-old girl diagnosed with PAVM with polycythemia, clubbing, cyanosis and radiological features; and had accompanying history of epistaxis in family and telengiectasia in oral mucosa as parts of HHT. She was treated by endovascular embolization.

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

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