Cardiac amyloidosis — state-of-the-art diagnosis and emerging therapies

Abstract

Cardiac amyloidosis (CA), which used to be considered a rare disease, is now increasingly recognised due to increased clinical awareness and the availability of advanced diagnostic techniques. CA can occur unexpectedly frequently in particular patient populations: among patients with heart failure with preserved left ventricular ejection fraction, as a phenocopy of hypertrophic cardiomyopathy, and among older patients with severe aortic stenosis. The deposition of abnormally folded, insoluble proteins in the extracellular matrix of tissues and organs plays a key role in the pathogenesis of amyloidosis. Despite the large number of pathogenic molecules, two types account for more than 95% of CA cases: immunoglobulin light chain amyloidosis (AL) and transthyretin amyloidosis (ATTR). A recent paradigm shift in the diagnosis of CA, without the need for performing endomyocardial biopsy, has occurred as a result of technological advances in imaging and the development of new scintigraphy protocols. A combination of positive scintigraphic examination performed with bone-avid tracers and the absence of detectable monoclonal protein in serum or urine justifies a non-invasive diagnosis of ATTR. Early identification of affected patients remains crucial in order to improve prognosis, especially in patients with AL, in whom progression of the disease from the moment of heart involvement is extremely swift without causal treatment. There has recently been an exponential development of novel agents designed for patients with cardiomyopathy in the course of ATTR, which as a result, hopefully, in the future could become a curable disease. In the following article we present recent advances in the diagnosis and treatment of CA.