title: Free functional muscle transfer failure and thrombophilic gene mutations as a potential risk factor: a case report.
abstract: The evolution of microsurgery popularized the free functioning muscle transfers as secondary procedures to reanimate paralyzed extremities after severance of the brachial plexus, especially when the surgeon deals with late cases. Studies considering transplantation, describe thrombophilic factors as a cause of severe complications after transplantation, such as acute or early rejection episodes, delayed graft function, or chronic graft dysfunction. It is the first time that thrombophilia associated with free muscle-graft rejection is reported. A young man who had two free functional muscle transfers for brachial plexus reconstruction in the same forearm within an interval of 6 months. The free functional muscle transfer was failed in both cases because of vein thrombosis and subsequent arterial clot. The possibility of thrombophilia was investigated and during the genetic investigation it was discovered that he was heterozygous for the mutations of factor V, G1691A-Leiden, A4070G and homozygous for the MTHFR C677T mutation.
authors.affiliation: Department of Orthopaedics, Medical School, University of Ioannina, Ioannina, Greece. vekrismd@otenet.gr
authors.forename: Marios D
authors.initials: MD
authors.lastname: Vekris
authors.forename: Maria
authors.initials: M
authors.lastname: Ovrenovits
authors.forename: Lefkothea
authors.initials: L
authors.lastname: Dova
authors.forename: Alexandros E
authors.initials: AE
authors.lastname: Beris
authors.forename: Panayiotis N
authors.initials: PN
authors.lastname: Soucacos
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Kolaitis
authors.forename: George
authors.initials: G
authors.lastname: Vartholomatos
mesh_terms: D000293:Adolescent; D001917:Brachial Plexus / Q000293:injuries*; D005165:Factor V / Q000235:genetics; D005543:Forearm Injuries / Q000601:surgery; D005819:Genetic Markers / Q000235:genetics; D006085:Graft Survival; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D018482:Muscle, Skeletal / Q000637:transplantation*; D009154:Mutation / Q000235:genetics*; D011183:Postoperative Complications; D013524:Surgical Flaps / Q000098:blood supply*; D013923:Thromboembolism / Q000235:genetics; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D005165:Factor V; D042965:Methylenetetrahydrofolate Reductase (NADPH2)