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Updated: Aug 3, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Red Flags Suggesting Cardiac Transthyretin Amyloidosis (ATTR) in Clinical Practice
Oskar M Galuszka1, Simon F Stämpfli1
1Department of Cardiology, Heart Centre Lucerne, Lucerne Cantonal Hospital, Lucerne, Switzerland.
Abstract:
Cardiac wtATTR is caused by extracellular deposition of misfolded proteins in the heart. It mostly affects elderly men and is still clearly underdiagnosed. Recognizing red flags suggesting wtATTR is key for a timely diagnosis, enabling the patient to profit from effective therapies. If general practitioners suspect cardiac amyloidosis, it is crucial to rapidly exclude AL-amyloidosis by immunoelectrophoresis, immunofixation as well as light-chain assay, because AL-amyloidosis needs urgent hematologic therapy. After that, the patient should be referred to the cardiologist for further assessment.
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