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Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.

Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus (DM), optic atrophy, diabetes insipidus, and deafness. Poorly controlled type 1 DM increases the risk for thrombosis. However, coexistence of DM and hereditary thrombosis factors is rarely observed. Here we present the case of a 13.5-year-old, nonfollowed girl newly diagnosed with poorly controlled Wolfram syndrome on the basis of the results of clinical and laboratory examinations. On the eighth day after diabetic ketoacidosis treatment, pulmonary embolism developed in the subject. Thrombus identified in the right atrium using echocardiography was treated by emergency thrombectomy. Homozygous mutation in the methylenetetrahydrofolate reductase gene C677T, heterozygous factor-V Leiden mutation, and active protein C resistance were identified in the patient. The patient was lost because of a recurring episode of pulmonary embolism on the 86th day of hospitalization. We present this case to highlight the need for investigating hereditary thrombosis risk factors in diabetic patients in whom thromboembolism develops. Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved.

An unusual case is reported of thromboembolus in the right atrium associated with cardiogenic shock and multiple pulmonary micro-embolisms. Two-dimensional echocardiograpy demonstrated a large irregular mass in the right atrium floating freely, prolapsing through the tricuspid valve into the right ventricle during diastole, and leading to inflow and outflow obstruction. An emergency operation was performed and the thromboembolic material was successfully extracted from the right atrium without using cardiopulmonary bypass. This exemplary case highlights the benefit of surgical intervention rather than more conservative approaches such as anticoagulation and/or thrombolysis.

We present a case of a 36-year-old woman suffering from mobile right atrial thrombus and pulmonary embolism associated with cardiogenic shock. Two-dimensional echocardiography demonstrated a mass in the right atrium prolapsing through the tricuspid valve into the right ventricle during diastole, and leading to partial inflow obstruction. Computed tomography revealed a large mass into the left and right main pulmonary artery leading to obstruction. The laboratory findings of the patients revealed protein C deficiency. An emergency operation was performed and the thrombus in the right atrium and both pulmonary arteries were successfully extracted with using cardiopulmonary bypass. Previously unsuspected a large patent foramen ovale was closed primarily. This exemplary case highlights the benefit of surgical intervention rather than more conservative approaches such as anticoagulation and/or thrombolysis.