ArticleOrphanet journal of rare diseases2026
Wild-type transthyretin cardiac amyloidosis: the journey to diagnosis in the Czech Republic : The research project of the Czech Society of Cardiology.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
background and aim of the studyWild-type transthyretin cardiac amyloidosis (ATTRwt-CA) is an increasingly recognized disease in elderly individuals. We aimed to perform a cross-sectional survey investigating the current diagnostic journey of ATTRwt patients in the Czech Republic from initial symptoms to final diagnosis.
methodsBetween November 2022 and May 2023, most data were prospectively obtained using a dedicated questionnaire from 118 ATTRwt-CA patients during the regular outpatient consultation. The rest of the data were taken by attending physicians from medical records.
resultsThe mean age of the patients at the time of diagnosis was 77 ± 6 years, 85.6% were males. The time interval from the onset of clinical scenario leading to suspicion of CA to suspected diagnosis was 14±24 months, while the subsequent period to definite ATTRwt-CA diagnosis was 2.5±2.3 months. Heart failure primarily led to the suspicion of CA in 61.9%, followed by suspicious echocardiographic findings (12.7%) and atrial fibrillation or flutter (6.8%). The history of carpal tunnel syndrome was the most common extracardiac manifestation found in 53.9% subjects, with median duration of 99 months. The diagnosis of CA was most often first suspected by outpatient cardiologists (33.1%) and cardiologists working at a cardiocenter (25.4%). At the time of diagnosis, NYHA class I or II was present in 10% and 56% of patients, respectively. The definite ATTRwt-CA diagnosis was made noninvasively in 63% cases.
conclusionsA relatively long-time delay still exists between the onset of clinical manifestations and suspicion of CA. Nevertheless, once CA is suspected, the definite ATTRwt-CA diagnosis is made early. Although heart failure still represents the most common clinical scenario, several other clinical profiles lead quite frequently to suspicion of the disease. The non-invasive diagnostics of ATTRwt-CA is done in majority of our patients, who are diagnosed mostly in early stages of the disease. The awareness of ATTRwt manifestations must be increased in order to shorten the whole diagnostic process of the disease.
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