The addition of Tirofiban infusión to heparin for intraoperative heparin resistance associated with Marfan Syndrome / Adición de una infusión de Tirofiban a heparina en caso de resistencia intraoperatoria a la heparina asociada al Síndrome de Marfan

Abstract Marfan syndrome classically presents with aortic root aneurysms. Aortic ectasia causes diverse blood flow alterations, influencing the behavior of coagulation factors and platelet activity. Heparin resistance has also been reported associated with Marfan Syndrome in a small number of patients, probably due to antithrombin III (ATIII) deficiency or various mutations. The ascending aorta and the aortic valve are replaced with prosthetic material during Bentall- de Bonno procedures. Resistance to anticoagulation during extracorporeal circulation, represents a significant challenge for both anesthesiologists and the surgical team. Resistance to heparin was observed in a patient with Marfan syndrome undergoing a Bentall procedure. ATIII concentrate was not available, and Activated Coagulation Time did not increase despite high doses of heparin. An alternate anticoagulation approach was used successfully.

Resumen El síndrome de Marfan clásicamente se presenta con aneurismas de la raíz de la aorta. La ectasia aórtica produce alteraciones en el flujo sanguíneo que influyen sobre el comportamiento de los factores de la coagulación y la actividad de las plaquetas. También se ha reportado resistencia a la heparina asociada al Síndrome de Marfan en un menor número de pacientes, probablemente debido a deficiencia de antitrombina III (ATIII) o a diversas mutaciones. La aorta ascendente y la válvula aórtica se reemplazan con material prostético en los procedimientos Bentall- de Bonno. La resistencia a la anticoagulación durante circulación extracorpórea significa un enorme desafío tanto para los anestesiólogos, como para el equipo quirúrgico. Se observó resistencia a la heparina en un paciente con Síndrome de Marfan sometido a un procedimiento de Bentall. No había disponibilidad de concentrado ATIII y no aumentó el Tiempo de Coagulación Activada a pesar de las elevadas dosis de heparina. Se utilizó exitosamente un abordaje alterno de anticoagulación.

Manejo obstétrico de la deficiencia hereditaria de antitrombina durante el embarazo y puerperio. Dos casos clínicos / Obstetric management of hereditary antithrombin deficiency in pregnancy and postpartum. Two case studies

La deficiencia de antitrombina III hereditaria es una rara enfermedad que afecta al 0.02-0.2 por cento de la población. Puede presentar mayor frecuencia de complicaciones y resultados adversos tanto en la madre como en el feto. Se presenta el manejo obstétrico de dos gestaciones consecutivas en una mujer con deficiencia de antitrombina III. Descripción: en ambos embarazos la madre realiza profilaxis de la enfermedad tromboembólica con heparina de bajo peso molecular para evitar la aparición de esta patología tanto en el embarazo como en el puerperio y mejorar el flujo útero-placen-tario. Con respecto a las complicaciones obstétricas, sólo existe un enlentecimiento del crecimiento fetal que obliga a un control obstétrico estricto. En ambas gestaciones los estudios eco-Doppler están dentro de la normalidad lo que permite una conducta expectante, consiguiendo llegar a término. Discusión: la profilaxis con heparina de bajo peso molecular en las gestantes con esta trombofilia y las intervenciones preventivas de factores de riesgo de enfermedad tromboembólica, junto con un control obstétrico adecuado, ha conseguido evitar la apari-ción de complicaciones derivadas de esta patología en el embarazo y en el puerperio. Por otra parte, el control del crecimiento fetal y el estudio Eco-Doppler han permitido asegurar el bienestar fetal no adelan-tando el parto, consiguiendo partos a término...

Hereditary antithrombin III deficiency is a rare disease that affects 0.02-0.2 percent of the population. It may be associated with a higher rate of complications and adverse outcomes in both mother and fetus. The present study describes the management of a woman with antithrombin III deficiency and two consecutive pregnancies. Description: in both pregnancies, the woman under went prophylaxis with low molecular weigh heparin, to prevent thromboembolic disease and improve the utero-placental flow during pregnancy and the postpartum period. The only obstetric compli-cation was fetal growth retardation requiring strict obstetric control. In these two cases the eco-Doppler studies offeto-placentalflow were normal, leading to the expectation of managing a term birth. Discussion: low molecular weigh heparin prophylaxis in pregnant women with thrombophilia and preventive interventions for risk factors for throm-boembolic disease, together with appropriate obstetric care managed to avoid the emergence of complications of this disease in pregnancy and puer-perium. Fetal growth control and a Doppler study also help to ensure the well-being of the fetus and avoid a preterm birth...

Renal Infarction Concurrent with Multiple Venous Thrombosis in Association with Inherited Antithrombin Deficiency / 대한신장학회지

Antithrombin deficiency is a rare condition among the numerous conditions that can lead to a hypercoagulable state, and can manifest as deep vein thrombosis, portal or mesenteric venous thrombosis, pulmonary thromboembolism and cerebrovascular accidents. In this report, we present a case of acute renal infarction and multiple venous thrombosis in a 36-year-old man with a family history of thromboembolism. He presented with a sudden onset of pain in the right flank and was admitted to the emergency room for evaluation. On computed tomography and renal angiography, the diagnosis of acute renal infarction concurrent with portal, splenic and superior mesenteric venous thrombosis was made. Laboratory data revealed parallel decreases in activity and antigen concentration of antithrombin despite normal liver and renal functions. He was treated with intravenous heparin and fresh frozen plasma followed by concomitant warfarin therapy. Taken together, the etiology of acute renal infarction and multiple venous thrombosis was considered to be associated with type I inherited antithrombin deficiency.

A case of chronic thromboembolic pulmonary hypertension (CTEPH) with antithrombin III deficiency / 대한내과학회지

Presented is a case study of a 39-year-old man with chronic thromboembolic pulmonary hypertension (CTEPH) and an underlying antithrombin III (AT III) deficiency. The subject presented with severe dyspnea (NYHA functional class III). A diagnostic workup led to a diagnosis of pulmonary thromboembolism and severe pulmonary hypertension with right ventricular failure. Genetic analysis revealed a novel nonsense mutation (c.243G>A) in SERPINC1. Pulmonary thromboendarterectomy was performed following the insertion of an inferior vena cava filter. After one year, the subject remained in NYHA functional class I and exhibited normal right ventricular function. This is the first report of a genetically confirmed AT III deficiency complicated by CTEPH in Korea.

Síndrome moyamoya en paciente con síndrome de Down y déficit de antitrombina III / Moyamoya disease in a girl with Down syndrome. Report of one case

Moyamoya disease is a unique chronic progressive cerebrovascular disease characterized by bilateral stenosis or occlusion of the arteries around the circle of Willis with prominent arterial collateral circulation. It can be primary or secondary to genetic syndromes such as Down syndrome. We report a seven year-old girl with a Down syndrome that presented with a disturbance of consciousness, seizures and a right hemiparesia at the age of five. Magnetic resonance imaging showed old cortical ischemic lesions in both cerebral hemispheres and a recent infarction in the territory of the ¡eft middle cerebral artery. Brain angiography showed a proximal stenosis of both medial cerebral arteries and a net of collateral vessels, consistent with the diagnosis of moyamoya syndrome. The patient had also an antithrombin III deficiency. Aspirin was indicated and a surgical correction was recommended. However, prior to the procedure, the patient had a new infarction in the territory of the right middle cerebral artery, which caused a severe disability.

Heparin Resistance during Cardiopulmonary Bypass in Infective Endocarditis Patients: A case report / 대한마취과학회지

Appropriate anticoagulation is essential for safe cardiopulmonary bypass (CPB). Two patients with infective endocarditis were scheduled for valve replacement. After an intravenous heparin injection for the CPB, the increases in the activated clotting time (ACT) in both patients were less than expected. Subsequent additional heparin administration failed to maintain a sufficient ACT for the CPB, and antithrombin III (AT III) tests during the CPB revealed low activities in both patients. Heparin resistance, due to consumption of circulating AT III as a result of infective endocarditis or prior heparinization, was postulated. While fresh frozen plasma (FFP) could not be timely administered in the first patient, ACT was successfully prolonged after the administration of FFP in the second. It is strongly suggested that adequate management of heparin resistance should be prepared for patients with infective endocarditis who require CPB.

Heparin Resistance during Cardiopulmonary Bypass in Infective Endocarditis Patients: A case report / 대한마취과학회지

Appropriate anticoagulation is essential for safe cardiopulmonary bypass (CPB). Two patients with infective endocarditis were scheduled for valve replacement. After an intravenous heparin injection for the CPB, the increases in the activated clotting time (ACT) in both patients were less than expected. Subsequent additional heparin administration failed to maintain a sufficient ACT for the CPB, and antithrombin III (AT III) tests during the CPB revealed low activities in both patients. Heparin resistance, due to consumption of circulating AT III as a result of infective endocarditis or prior heparinization, was postulated. While fresh frozen plasma (FFP) could not be timely administered in the first patient, ACT was successfully prolonged after the administration of FFP in the second. It is strongly suggested that adequate management of heparin resistance should be prepared for patients with infective endocarditis who require CPB.

A Case of Stasis Dermatitis with Secondary Lipodermatosclerosis in a Patient with Antithrombin III Deficiency / 대한피부과학회지

Antithrombin is one of the main endogenous anticoagulants. Antithrombin deficiency may result from hereditary or acquired factors. Inherited antithrombin deficiency is an uncommon autosomal disorder associated with a tendency to venous thromboembolism. Stasis dermatitis occurs as a result of venous stasis caused by venous incompetence or deep vein thrombosis. Furthermore, lipodermatosclerosis that refers to the skin induration and hyperpigmentation of the legs, often occurs in patients who have venous insufficiency. We report a case of stasis dermatitis, complicated by lipodermatosclerosis on both legs of a patient with hereditary antithrombin III deficiency.

A Case of Hereditary Antithrombin III Deficiency Manifested by Myocardial Infarction and Deep Vein Thrombosis

Antithrombin III deficiency is an autosomal dominant disorder, which is manifested by recurrent venous thromboembolisms, such as: deep vein thrombosis and/or pulmonary embolism, but arterial embolisms are very rare. We report a case of a patient with hereditary antithrombin III deficiency, manifested by myocardial infarction and deep vein thrombosis.

The Study of Antithrombin III Deficiency in Patients with Recurrent Spontaneous Abortion / 대한불임학회지

OBJETIVE: To analyze the antithrombin III deficiency in patients with recurrent spontaneous abortion. MATERIALS AND METHOD: The blood samples were tested by chromogenic assay to evaluate the activity of antithrombin III. RESULTS: There was only one case of antithrombin III deficiency. This patient experienced one neonatal death after delivery and one FDIU (fetal death in utero). And also this patient showed a lupus anticoagulant and the prolongation of PTT. CONCLUSIONS: Women with recurrent miscarriage who have no obvious identified cause should consider hematologic screening. Antithrombin III deficiency could be a cause of recurrent spontaneous abortion. But the incidence is very rare in Korean patients.

Cerebral Venous Sinus Thrombosis Associated with Antithrombin III Deficiency: A Case Report

Antithrombin III deficient individuals have an increased risk of venous thrombosis and thromboembolism at a young age. To our knowledge, cerebral venous thrombosis associated with antithrombin III deficiency has not yet been reported in Korea. A 27-year-old pregnant woman without any known stroke risk factors was admitted to our hospital because of convulsions. Brain MRI and MR venography showed dural sinus thrombosis of the superior sagittal sinus, straight sinus, and left lateral sinus with venous hemorrhagic infarctions in both frontal and parietal lobes. Antithrombin III concentrations were decreased to 37%. We speculated that the etiology of the cerebral venous thrombosis in this patient was associated with antithrombin III deficiency. We suggest that antithrombin III deficiency should be considered as a possible cause of cerebral venous thrombosis.

A Case of Anti-Thrombin III Deficiency Discovered by Myocardial Infarction

Anti-thrombin III deficiency is known as a disease of autosomal dominant trait and relatively common, but in Korea, exact incidence and mortality is not known, In general, Anti-thrombin III deficiency is expressed to venous thromboembolism like deep vein thrombosis or pulmonary embolism. But, arterial embolism is very rare. We experienced a case of Antithrombin III deficiency expressed as myocardial infarction of inferior wall by huge thrombosis in the mid and distal right coronary artery.