The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report

• Published in: Medicine (Baltimore) 2018-06, Vol.97 (22), p.e10511-e10511
• Main Authors: De Souza, Valter Romão, Lemos, Victor Moreira Valença de, Lafayette, Daniell de Siqueira Araújo, Lemos, Roberto Souza de, Fontes, Luciana de Barros Correia, Lima, Glaydes Maria Torres de, Correia, Cláudia Wanderley de Barros, Domingues, Ana Lucia Coutinho, Aroucha, Amanda Queiroz da Mota Silveira, Oliveira, Igor Macedo de, Santos, Gabriel Pinheiro, Vanderlei, Ana Maria, Lemos, Vladmyr Moreira Valença de, Peter, João Vitor Sostenes, Vieira, Juliana Oliveira, Mariano, Aline Rayane Pereira, Gomes, Turíbio Anacleto, Ferraz, Alice Marcelle de Souza, Amaral, José Henrique Sousa do, Lins, Esdras Marques, Bezerra, Marcos André Cavalcanti, Araújo, Paulo Sérgio Ramos de, Vasconcelos, Adriana Ferraz de, Correia, Maria da Conceição de Barros, Costa, Manuela Freire Hazin
• Format: Article
• Language: English
• Subjects: Adult; Anticoagulants - therapeutic use; Azygos Vein - abnormalities; Azygos Vein - diagnostic imaging; Brazil; Clinical Case Report; Collateral Circulation; Diagnosis, Differential; Factor V - genetics; Fatal Outcome; Heterozygote; Humans; Magnetic Resonance Angiography - methods; Male; Mutation; Superior Vena Cava Syndrome - diagnosis; Superior Vena Cava Syndrome - etiology; Thorax - blood supply; Thorax - diagnostic imaging; Thorax - pathology; Tomography, X-Ray Computed - methods; Vascular Malformations - complications; Vascular Malformations - diagnostic imaging; Vascular Malformations - pathology; Vena Cava, Superior - abnormalities; Vena Cava, Superior - pathology; Venous Thrombosis - diagnosis; Venous Thrombosis - etiology
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000010511

Total absence of superior vena cava (ASVC) is a very rare anomaly, and the patient usually suffers from superior vena cava syndrome (SVCS) or conduction disturbances. We report a 36-year-old white male, born and living in Brazil, without comorbidities presented to hematologist thrombotic episodes even under anticoagulant therapy. On his first hematologic appointment, he had no active complaints except by the fullness after meals, and his physical examination presented remarkable collateral circulation in the chest. Congenital ASVC associated with factor V Leiden mutation. In his magnetic resonance angiography of the thorax, a great amount of collateral circulation and communication of the azygos and hemiazygos veins with inferior vena cava were evident, as well as the absence of the upper cava vein. Furthermore, heterozygous genetic mutation was found for Leiden factor V. This case gives us the lesson that we need to include ASVC in the differential diagnosis of SVCS. The importance of the V-Leiden factor as a joint risk with this congenital defect for venous thromboembolism episodes was also highlighted.