Transthyretin Amyloidosis Cardiomyopathy in Patients With HFpEF in Russia

Overview

A multicenter observational retrospective-prospective study of prevalence and clinical characteristics of transthyretin amyloidosis (ATTR) cardiomyopathy (CM) in Russian patients with heart failure with preserved ejection fraction (HFpEF) in real clinical practice. The retrospective phase will entail secondary data collection from electronic or paper medical records of patients who are participating/participated in the PRIORITY-CHF study and have HFpEF. Those patients who have a high suspicion of having ATTR-CM and provided informed consent will be invited to participate in the prospective phase. The prospective phase will consist of three visits, during which a routine comprehensive cardiologic evaluation in order to confirm or exclude ATTR-CM diagnosis will be performed. In patients with confirmed ATTR-CM the material for genetic testing will be collected in order to specify the type of ATTR-amyloidosis

This is a multicenter observational study consisting of retrospective and prospective phases. Heart failure (HF) - is a clinical syndrome characterised by the presence of typical symptoms (e.g. breathlessness, fatigue and ankle swelling) and signs (e.g. elevated jugular venous pressure, pulmonary crackles and peripheral oedema) caused by a structural and/or functional cardiac abnormality, resulting in a reduced cardiac output and/or elevated intracardiac pressures at rest or during stress. Cardiac amyloidosis is an underestimated cause of HF and cardiac arrhythmias. Among all most commonly types of cardiac amyloidosis (wild-type or familial TTR and light-chain), the wild-type (Wt) TTR-related amyloidosis (ATTR) is an increasingly recognized cause of HFpEF, and amyloidosis should be considered in the differential diagnosis of this heart failure group of patients. ATTR-CM is an inexorably progressive and eventually fatal, associated with poor quality of life. Diagnosis is often delayed for many years after symptoms develop. However, recognition of ATTR epidemiology is evolving due to the increased use of cardiac scintigraphy as a noninvasive diagnostic tool. Early identification and intervention are crucial to improve patient outcomes because newly available treatments have been shown to have maximum therapeutic benefit when started in the early stages of the disease. In recent years, contemporary cardiac imaging techniques, including MRI and bone scintigraphy, have altered the diagnostic algorithm for ATTR-CM, which has resulted in increased detection. Thus country-specific epidemiologic data collection and identification of ATTR-CM is crucial to improve outcomes and quality of life. However, no observational studies on the epidemiology of ATTR-CM in Russian patients with HFpEF have been performed. Therefore, there is a need to conduct a large-scale observational study to determine the prevalence of ATTR-CM in Russia, obtain information on patients' clinical characteristics, and determine their medical needs. Meanwhile information about epidemiological, ECG, EchoCG, other characteristics and prevalence is crucially important to improve diagnostics of these patients. In addition, recently molecular genetic testing became available, which is essential to diagnose hereditary ATTR. Earlier recognition of the ATTR type, in turn, may lead to timely treatment initiation and change in the prognostic outlook of ATTR-CM patients.