Amyloid cardiomyopathy: the different facets of a not so rare disease (RCD code III‐3A.1, III‐3A.2)

Ioannis Boutsikos, Maria Dova, Aristea Tsaroucha, Dimitrios Chatzis

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Abstract


Amyloidosis is a rare disorder which can affect multiple organs, with cardiac amyloidosis (CA) being one of its main clinical manifestations. CA has 2 distinct subtypes, AL amyloidosis and transthyretin amyloidosis (ATTR), with different histopathological appearances and subsequently different treatment strategies. The diagnostic methods available include multiple modalities to properly detect CA, ranging from the surface electrocardiogram and simple 2D‐echocardiography to more sophisticated methods such as specific biomarkers, speckle tracking echocardiography, or even bone scintigraphy with radioisotopes. However, the definitive diagnosis is reached with an endomyocardial biopsy or a biopsy from peripheral tissue. CA is a particularly challenging disorder in terms of patient management, which ranges from symptomatic treatment for heart failure symptoms to special medication and multiple drug regimens. For AL amyloidosis, a 3‐drug regimen is used as a first‐line therapy including cyclophosphamide, a proteasome inhibitor, and dexamethasone. For ATTR amyloidosis, specific medications are used such as Tafamidis, depending on the specific stage of the disease. Clinical trials of new drugs are pending with the ultimate goal of improving treatment rates and quality of life in patients with any type of CA. JRCD 2019; 4 (2): 34–41


Keywords


rare disease; cardiac disease; electrocardiography; echocardiography; scintigraphy; endomyocardial biopsy; specific treatment; quality of life

References


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DOI: http://dx.doi.org/10.20418%2Fjrcd.vol4no3.394

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