The first reported case of factor V Leiden mutation with agenesis of superior vena cava
| Autor: | De Souza, Valter Romão, de Lemos, Victor Moreira Valença, Lafayette, Daniell de Siqueira Araújo, de Lemos, Roberto Souza, Fontes, Luciana de Barros Correia, de Lima, Glaydes Maria Torres, Correia, Cláudia Wanderley de Barros, Domingues, Ana Lucia Coutinho, Aroucha, Amanda Queiroz da Mota Silveira, de Oliveira, Igor Macedo, Santos, Gabriel Pinheiro, Vanderlei, Ana Maria, de Lemos, Vladmyr Moreira Valença, Peter, João Vitor Sostenes, Vieira, Juliana Oliveira, Mariano, Aline Rayane Pereira, Gomes, Turíbio Anacleto, Ferraz, Alice Marcelle de Souza, do Amaral, José Henrique Sousa, Lins, Esdras Marques, Bezerra, Marcos André Cavalcanti, de Araújo, Paulo Sérgio Ramos, de Vasconcelos, Adriana Ferraz, Correia, Maria da Conceição de Barros, Costa, Manuela Freire Hazin |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Heterozygote Superior Vena Cava Syndrome Vena Cava Superior cardiovascular abnormalities factor V Leiden mutation Vascular Malformations Collateral Circulation agenesis deep vein thrombosis Diagnosis Differential Fatal Outcome Humans cardiovascular diseases Clinical Case Report Venous Thrombosis Anticoagulants Factor V Thorax Azygos Vein Mutation cardiovascular system Tomography X-Ray Computed superior vena cava Brazil Magnetic Resonance Angiography Research Article |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|