Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

Abstract

Vascular morphogenesis is a vital process for embryonic development, normal physiologic conditions (e.g. wound healing) and pathological processes (e.g. atherosclerosis, cancer). Genetic studies of vascular anomalies have led to identification of critical genes involved in vascular morphogenesis. A susceptibility gene, VG5Q (formally named AGGF1), was cloned for Klippel-Trenaunay syndrome (KTS). AGGF1 encodes a potent angiogenic factor, and KTS-associated mutations enhance angiogenic activity of AGGF1, defining 'increased angiogenesis' as one molecular mechanism for the pathogenesis of KTS. Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN. Future studies of vascular anomaly genes will provide insights into the molecular mechanisms for vascular morphogenesis, and may lead to the development of therapeutic strategies for treating these and other angiogenesis-related diseases, including coronary artery disease and cancer.

Primary Left Ventricular Angiomatosis First Description of a Rare Vascular Tumor in the Left Heart

“…It can either be congenital or acquired. The congenital form of angiomatosis may be seen sporadically or accompanying certain types of syndromes such as Klippel-Trenaunay-Weber syndrome, 5) Sneddon's syndrome, 6) or Gorham disease. 7) In these syndromes, the lesions may be observed in any tissue and are clinically extensive, covering large parts of the body in a continuous pattern.…”

Deep Vein Thrombosis in Patients with Severe Motor and Intellectual Disabilities, Especially Diagnosis and Prevention of Recurrence for Chronic Thrombosis—Serial Changes of Sonography and D-Dimer

“…However, it is considered that thrombus formation is causally related to disturbance of mobility due to a prolonged bedridden state related to cerebral palsy from young childhood, especially due to paralysis of the lower extremities, which leads to contracture deformities of the lower extremities and concomitant narrowing of the vessels by vascular underdevelopment and immaturity. 22,23) Consequently, it has been suggested that thrombus forms in the conduct veins centrally in patients with SMID. We only detected it mainly in the common femoral and superficial veins, there were no associations with significantly elevated levels of D-dimer caused by reduced vessel volume due to vascular underdevelopment and immaturity.…”

Klippel-Trenaunay Syndrome Accompanied by the Findings of Scoliosis and Spinal Nerve Root Compression Due to AVM

“…There is some evidence that it may be associated with a translocation at (8;14) (q22.3;q13). Some researchers have suggested that VG5Q (Vasculogenesis gene on 5q protein) has an association (7)(8)(9)(10)(11).…”