AMYLOID CARDIOMYOPATHY: DIAGNOSIS AND TREATMENT

Abstract

The review presents current data on heart disease in systemic amyloidosis. The article discusses variants of amyloi-dosis with common heart disease: AL-, ATTRwt- and ATTRv amyloidoses. Clinical signs of amyloid cardiomyopathy and extracardiac manifestations that allow one to suggest amyloidosis are described. Methods for diagnosing amyloid cardiomyopathy are presented. Echocardiographic diagnostic characters include increased thickness of the left ventricular wall, atrioventricular valve, right ventricular wall, thickening of the interatrial septum, and also diastolic dysfunction, and decreased global longi-tudinal strain with relative preservation of apical longitudinal strain. Magnetic resonance imaging reveals signs specific for amyloidosis: increased extracellular volume and diffuse suben-docardial or transmural delayed enhancement after gadolinium administration. Scintigraphy using technetium-99m labeled compounds can confirm the diagnosis of ATTR cardiomyopathy. The diag-nosis of ATTR cardiomyopathy is only possible in combination with blood and urine tests to exclude the presence of a monoclonal protein. Screening for monoclonal protein includes three laboratory tests: determination of free light chains in blood serum, electrophoresis of serum protein and urine protein with immunofixation. Indications for myocardial biopsy and the role of extracardiac tissue biopsy are discussed. Endomyocardial biopsy should be performed: a) in case of strong clinical suggestion of cardiac amyloidosis in a patient with monoclonal pro-tein; b) in case of strong clinical suggestion of cardiac amyloidosis, despite negative or equivocal scintigraphy result; c) if cardiac scintigraphy is not available. The possibilities of pathogenetic therapy for ATTR- and AL amyloidosis, aimed at stopping or slowing amyloid deposi-tion in the heart, and symptomatic treatment are discussed.