Dados do Trabalho

Título

TEMPI syndrome as a rare cause of acute myocardial infarction and ischemic cardiomyopathy

Introdução e/ou Fundamento

TEMPI syndrome is a rare and acquired disorder characterized by 5 features: 1) telangiectasias; (2) elevated erythropoietin and erythrocytosis; (3) monoclonal gammopathy; (4) perinephric fluid collections; and (5) intrapulmonary shunting. It is associated with venous thrombosis and we describe for the first time an association with arterial thrombosis and ischemic cardiomyopathy.  

Descrição do Caso

A 29-year-old medicine student man presented to a heart failure specialist outpatient clinic with diagnosis of ischemic cardiomyopathy due to an acute ST-elevation myocardial infarction (STEMI) of the anterior wall of left ventricle caused by thrombotic occlusion of the left anterior descending coronary artery (LAD) two years before. Although prompt thrombus aspiration has been performed during primary coronary intervention, the event resulted in an extensive fibrosis and the diagnosis of HF with reduced ejection fraction (LVEF = 33%). Guideline medical directed therapy was started and implantable cardioverter-defibrillator implanted. Patient presented slight limitation for physical activity and no symptoms at rest (New York Heart Association class II). His vital signs were stable, there was no edema or pulmonary congestion and peripheral perfusion was normal. Multiple telangiectasias at face, thorax and arms were noted.  His current home medications included sacubitril-valsartan; metoprolol succinate, spironolactone, ivabradine, clopidogrel and rivaroxaban. ECG showed normal sinus rhythm with prior anteroseptal myocardial infarction. ECHO revealed LVEF 33% and akinesia of anterior and anteroseptal wall and apex. Cardiac MRI confirmed ischemic cardiomyopathy with fibrosis in 70% of LV mass. Lab tests revealed NTproBNP of 911 pg/mL and high hematocrit (Hb 18,9 and Ht 58%). During the subsequent months, patient stopped taking anticoagulant pills for some days and was admitted to Emergency room with the diagnosis of deep venous thrombosis of superior left arm. During hospitalization, thrombophilia screen and other tests were performed in order to clarify the etiology of the disease. High levels of erythropoietin, monoclonal gammopathy and high levels of VGF-1 were identified. JAk2 mutation was negative and 6,7% of plasmocytic cells were detected in bone marrow tests. Two other thrombotic episodes (pulmonary thromboembolism) occurred in different moments when patient forgot to take anticoagulant pills for some days. Subsequent tests excluded multiple myeloma as a cause for the disease and the presence of intrapulmonary shunt confirmed the hypothesis of TEMPI syndrome.

Discussão e/ou Conclusão

This clinical case reports for a rare disorder that resulted in an ischemic cardiomyopathy and reinforces the precise etiology of cardiomyopathy may change patient’s management and prognosis.