Nowe metody diagnostyki amyloidozy serca. Seria przypadków amyloidozy transtyretynowej

Abstract

The systemic amyloidosis are diseases induced by misfolded proteins. These insoluble proteins deposit in extracellular space. Infiltration the heart by amyloid can result in progressive diastolic and systolic dysfunction and restrictive cardiomyopathy phenotype – left ventricle hypertrophy and stiffness. More than 20 different precursor proteins have the propensity to form amyloid fibrils. One of the most common amyloid infiltrating the heart is transthyretin amyloid (ATTR) - mostly inherited disease. ATTR is generally considered a mainly neurological disease, but it is phenotypically heterogeneous and the clinical spectrum of the disease varies widely, which makes the diagnosis a real challenge. Although, the early diagnosis improve the prognosis, especially due to new drug introduced in ATTR - tafamidis. In this article we would like to present the case series of transthyretin amyloidosis, which was diagnosed by heart scintigraphy or genetic testing.