The profile of transthyretin amyloid cardiomyopathy in Germany and Spain: a real-world survey of cardiologists and patients
M L Pena Pena, F Dominguez Rodriguez, R Knapp, J Garratt-Wheeldon, M S Ares Gomez, J Wright, S Williamson, T Evers, J Horswill, L MichelAbstract
Background/Introduction
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive disease where transthyretin misfolds forming amyloid fibril deposits in the heart.
Purpose
This study aims to describe characteristics of patients with ATTR-CM in Germany and Spain, as well as the diagnostic journey of patients.
Methods
We descriptively analysed secondary data including sociodemographic, clinical characteristics and diagnostic pathways from the Adelphi Real World ATTR Disease Specific Programme, a real-world, cross-sectional survey of cardiologists and patients with ATTR-CM conducted in Germany and Spain, between September 2024 and January 2025.
Results
A total of 61 cardiologists provided data on 240 ATTR-CM patients in Germany and Spain. Most patients were diagnosed by general cardiologists (84.7%). Mean time (years) from symptom onset to ATTR diagnosis was 0.6 in Germany and 2.0 in Spain. Results are summarised in Table 1. Among patients with a known genotype (n=148), 67.6% had wild-type ATTR and 32.4% had hereditary ATTR. The most common mutation was p.Val142Ile in Germany (n=10) and Val30Met in Spain (n=8). Less than 7% of patients were diagnosed with a mixed phenotype (with transthyretin amyloid polyneuropathy [ATTR-PN] in addition to ATTR-CM).
Conclusions
Most patients were reported to have ATTR-CM only (no mixed phenotype) and mild-moderate CM symptoms that could benefit from disease modifying therapy. Further studies should evaluate possible associations between high levels of ATTR-CM comorbidities (e.g. carpal tunnel syndrome) and delays in diagnosis and treatment of new ATTR-CM patients in Spain.For image description, please refer to the figure legend and surrounding text.