Open AccessThe first reported case of factor V Leiden mutation with agenesis of superior vena cava
Author(s) -
Valter Romão de Souza,
Victor Moreira Valença de Lemos,
Daniell de Siqueira Araújo Lafayette,
Roberto Lemos,
Luciana de Barros Correia Fontes,
Glaydes Maria Torres de Lima,
Cláudia Wanderley de Barros Correia,
Ana Lúcia Coutinho Domingues,
Amanda Queiroz da Mota Silveira Aroucha,
Igor Macedo de Oliveira,
Gabriel Pinheiro Santos,
Ana Maria Vanderlei,
Vladmyr Moreira Valença de Lemos,
João Vitor Sóstenes Peter,
Juliana Oliveira Vieira,
Aline Rayane Pereira Mariano,
Turíbio Anacleto Gomes,
Alice Marcelle de Souza Ferraz,
José Henrique Sousa do Amaral,
Esdras Marques Lins,
Marcos André Cavalcanti Bezerra,
Paulo Sérgio Ramos de Araújo,
Alexandre Vasconcelos,
Maria da Conceição de Barros Correia,
Manuela Costa
Publication year - 2018
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000010511
Subject(s) - medicine , inferior vena cava , factor v leiden , superior vena cava , agenesis , collateral circulation , thorax (insect anatomy) , magnetic resonance angiography , thrombophilia , radiology , surgery , cardiology , magnetic resonance imaging , thrombosis , venous thrombosis , anatomy
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.