1. The first reported case of factor V Leiden mutation with agenesis of superior vena cava: A case report.
- Author
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De Souza VR Jr, Lemos VMV, Lafayette DSA, Lemos RS, Fontes LBC, Lima GMT, Correia CWB, Domingues ALC, Aroucha AQDMS, Oliveira IM, Santos GP, Vanderlei AM, Lemos VMV, Peter JVS, Vieira JO, Mariano ARP, Gomes TA, Ferraz AMS, Amaral JHSD, Lins EM, Bezerra MAC, Araújo PSR, Vasconcelos AF, Correia MDCB, and Costa MFH
- Subjects
- Adult, Anticoagulants therapeutic use, Azygos Vein abnormalities, Azygos Vein diagnostic imaging, Brazil, Collateral Circulation, Diagnosis, Differential, Fatal Outcome, Heterozygote, Humans, Magnetic Resonance Angiography methods, Male, 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, Vena Cava, Superior pathology, Venous Thrombosis etiology, Factor V genetics, Mutation, Vascular Malformations pathology, Vena Cava, Superior abnormalities, Venous Thrombosis diagnosis
- 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.
- Published
- 2018
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