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Case Reports
. 2018 Jun;97(22):e10511.
doi: 10.1097/MD.0000000000010511.

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

Valter Romão De Souza Jr  1 , Victor Moreira Valença de Lemos, Daniell de Siqueira Araújo Lafayette, Roberto Souza de Lemos, Luciana de Barros Correia Fontes, Glaydes Maria Torres de Lima, Cláudia Wanderley de Barros Correia, Ana Lucia 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 Sostenes 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, Adriana Ferraz de Vasconcelos, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
Affiliations
Case Reports

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

Valter Romão De Souza Jr et al. Medicine (Baltimore). 2018 Jun.

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.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Three-dimensional restructuring image of CT revealed collateral circulation in the chest.
Figure 2
Figure 2
Three-dimensional restructuring image of CT revealed collateral circulation in the chest.
Figure 3
Figure 3
Magnetic resonance angiography of the thorax showing remarkable collateral circulation in the chest.
Figure 4
Figure 4
Collateral circulation in the chest.
Figure 5
Figure 5
Magnetic resonance angiography of the thorax showing absence of upper vena cava.
Figure 6
Figure 6
Magnetic resonance angiography of the thorax showing absence of upper vena cava.
Figure 7
Figure 7
Magnetic resonance angiography of the thorax.
Figure 8
Figure 8
Magnetic resonance angiography of the thorax.
Figure 9
Figure 9
Magnetic resonance angiography of the thorax showing absence of upper vena cava.
See this image and copyright information in PMC

References

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