P290 CARDIAC AMYLOIDOSIS, A CHALLENGING DIAGNOSTIC WORK – UP

Abstract

Abstract A 79 years–old male presented to our outpatient clinic with symptoms of an initial heart failure. He had an history of atrial fibrillation (AF), anaemia and thrombocytopaenia, which have never been deeply investigated, bilateral carpal tunnel syndrome. Electrocardiogram (EKG) showed AF with normal ventricular rate and low peripherical QRS voltages. Laboratory testing was significant for NT proBNPelevation, pancytopenia and iron overload. An echocardiogram (ECHO) was done showing a hypokinetic and dilated biventricular cardiopathy. The therapy was therefore optimized with clinical benefit. At coronary angiography a severe stenosis of left coronary artery was observed with normal myocardial perfusion imaging. Cardiovascular magnetic resonance (CMR) excluded an iron intramyocardial overload (in contrast to the hepatic and splenic parenchyma) and detected a subendocardial pattern of LGE at lateral and mid–basal septal area. Emochromatosis and Gaucher disease were excluded. As suggested by hematologists, he underwent osteomedullary biopsy (OMB) and a myelodysplastic syndrome (MDS) was diagnosed. He was still symptomatic for dyspnea on mild exertion. The following ECHO revealed normal left ventricular (LV) size with moderate concentric remodeling, mildly impaired LV systolic function and LV filling pattern suggestive of restrictive cardiomyopathy. All these data prompted suspicion for an infiltrative cardiopathy. Nuclear scintigraphy with the use of bone seeking agent was done and showed Perugini grade 2 cardiac uptake. Moreover, amyloid deposits were identified after Congo red–staining from OMB. immunoglobulin light chain (LA) amyloidosis was excluded. Conclusion based on the above findings, Cardiac Amyloidosis TTR–related wild type was diagnosed. The diagnosis of MDS and the identification of iron overload were incidental findings. The patient, currently in follow up at our center, is a candidate to Tafamidis.