RESUMO
The term amyloidosis summarizes heterogeneous diseases in which a misfolding of protein structures occurs. These misfolded proteins can fundamentally be deposited anywhere in the body and lead to malfunction of the affected organ. There are preferential sites of deposition depending on which protein is misfolded. Cardiac transthyretin (ATTR) amyloidosis is a rare cause of cardiomyopathy and part of an underdiagnosed systemic disease. For cardiac ATTR amyloidosis, which involves deposition of misfolded tranthyretin either as a wild type (wtATTR) or as a mutated form (mATTR or hATTR), evidence-based treatment options have recently become available with slowing of the progression of the cardiomyopathy and a significant reduction of hospitalization rates. Therefore, it is important to diagnose this severe disease at an early stage and to differentiate it from other forms of amyloidosis. A clinical screening is easily possible by determination of free light chains using imaging examinations (cardiac magnetic resonance imaging or scintigraphic procedures) and immunofixation before the definitive diagnosis is made based on a biopsy and/or genetic tests. An interdisciplinary work-up involving hemato-oncology, nephrology, neurology and other disciplines, is indispensable when cardiac amyloidosis is suspected.
