Novel methods for improved diagnosis and evaluation of treatment in cardiac transthyretin amyloidosis

Purpose and aimsNovel therapies have emerged for transthyretin (ATTR) amyloidosis, which require early diagnosis. The purpose is to develop new methods for an early diagnosis and follow up in ATTR amyloidosis.

A) To develope diagnostic tools based on metabolic pathways.B) To evaluate non-invasive imaging tools for early diagnosis.C) To apply a diagnostic algorithm for cardiac ATTR in heart failure patients.D) To investigate the prevalence and optimal diagnosis in cardiac ATTR in females E) Evaluate new options of treatment in ATTR-CA using cardiac imaging and biomarkersMethodsA) Plasma from ATTR amyloidosis patients, TTR mutation carries and healthy controls will be analysed at the Swedish Metabolomics Cente, Umeå University by gas chromatography, liguid chromatography and mass spectrometry.

B) PET will be used to characterise amyloid deposits in the CNS and the heart in patients with heriditary ATTR.C) We plan to investigate the prevalence of cardiac ATTR amyloidosis in heart failure patients selceted from the region of Umeå.D) We aim to investigate the prevalence, optimal diagnosis and treatment effect in both males and females with ATTR-CA including Echo, ECG, DPD scintigraphy, PET, MRI, OMICS and biomarkersSignificanceEarly diagnosis is cruical for an effective treatment of ATTR amyloidosis.

We believe that our project can contribute to that by testing new and established diagnostic tools enabling early and more accurate diagnosis of all forms of ATTR amyloidosis.