Factores trombogénicos sistémicos en paciente con síndrome coronario agudo con cinecoronariografía normal y patológica

En la fisiopatología del síndrome coronario agudo (SCA) sin evidencia de lesión ateromatosa oclusiva, podría participar un estado de hipertrombogenicidad sanguínea, generado por factores trombogénicos sistémicos, como los factores de riesgo cardiovascular y los que intervienen en el balance coagulación-anticoagulación, fibrinolisis y formación de fibrina. Objetivo: Estudiar y comparar los factores trombogénicos sistémicos en pacientes con SCA y cinecoronariografía (CCG) normal y patológica.In the pathophysiology of acute coronary syndrome (ACS) without evidence of occlusive atherosclerotic lesion, could participate a state of blood hipertrombogenicidad generated by systemic thrombogenic factors such as cardiovascular risk factors and those involved in the balance coagulation-anticoagulation, fibrinolysis and fibrin formation. Objective: Study and compare systemic thrombogenic factors in patients with ACS and normal and pathological coronary angiography (GCC).Fil: Testasecca, E.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Cátedra de InmunologíaFil: Testasecca, A.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Cátedra de InmunologíaFil: Maneschi, E.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Cátedra de InmunologíaFil: Fragapane, P.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Cátedra de InmunologíaFil: Diumenjo, M. S.. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Cátedra de Inmunologí

12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: A case report and review of the literature

Background: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower limbs) and substantial feeding difficulties. Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. Case presentation: We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. Conclusions: Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype