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

Medicine
Valter Romão De SouzaManuela Freire Hazin Costa

Abstract

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. 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. Congenital ASVC associated with factor V Leiden mutation. 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. 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.

References

Sep 1, 1993·AJR. American Journal of Roentgenology·H J KimS H Chung
May 4, 2007·The New England Journal of Medicine·Lynn D WilsonJoachim Yahalom
Aug 12, 2009·The Journal of Vascular Access·Antonio GranataCarmelo Erio Fiore
Jan 22, 2015·Orphanet Journal of Rare Diseases·Tolga Atilla SagbanMansur Duran
Apr 18, 2016·Journal of the American Academy of Dermatology·Yunyoung ChangTania Phillips
Oct 11, 2016·Korean Circulation Journal·Chan Soon ParkJin Joo Park
Nov 1, 2016·Expert Review of Hematology·Elena CampelloPaolo Simioni
Dec 23, 2016·European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery·G S SfyroerasG Geroulakos
Jul 19, 2017·Canadian Association of Radiologists Journal = Journal L'Association Canadienne Des Radiologistes·Abed GhandourPrabhakar Rajiah
Jan 24, 2018·Journal of Medical Case Reports·Valter Romão de SouzaManuela Freire Hazin Costa

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Related Concepts

Related Feeds

Cardiac Conduction System

The cardiac conduction system is a specialized tract of myocardial cells responsible for maintaining normal cardiac rhythm. Discover the latest research on the cardiac conduction system here.