The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report. Issue 22 (June 2018)

• Record Type: Journal Article
• 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
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 97:Issue 22(2018)
• Publication Date: 2018-06
• Subjects: agenesis -- cardiovascular abnormalities -- deep vein thrombosis -- factor V Leiden mutation -- superior vena cava; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000010511
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: 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. Patient concerns: 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. Diagnoses: Congenital ASVC associated with factor V Leiden mutation. Outcomes: 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. Lessons: 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.