González-López, E; Gagliardi, C; Dominguez, F; Quarta, CC; Javier de Haro-del Moral, F; Milandri, A; Salas, C; ... Garcia-Pavia, P; + view all González-López, E; Gagliardi, C; Dominguez, F; Quarta, CC; Javier de Haro-del Moral, F; Milandri, A; Salas, C; Cinelli, M; Cobo-Marcos, M; Lorenzini, M; Lara-Pezzi, E; Foffi, S; Alonso-Pulpon, L; Rapezzi, C; Garcia-Pavia, P; - view fewer (2017) Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths. European Heart Journal , 38 (24) pp. 1895-1904. 10.1093/eurheartj/ehx043.

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Abstract

AIMS: Wild-type transthyretin amyloidosis (ATTRwt) is mostly considered a disease predominantly of elderly male, characterized by concentric LV hypertrophy, preserved LVEF, and low QRS voltages. We sought to describe the characteristics of a large cohort of ATTRwt patients to better define the disease. METHODS AND RESULTS: Clinical findings of consecutive ATTRwt patients diagnosed at 2 centres were reviewed. ATTRwt was diagnosed histologically or non-invasively (LV hypertrophy ≥12 mm, intense cardiac uptake at ⁹⁹^{m}Tc-DPD scintigraphy and AL exclusion). Mutations in TTR were excluded in all cases. The study cohort comprised 108 patients (78.6 ± 8 years); 67 (62%) diagnosed invasively and 41 (38%) non-invasively. Twenty patients (19%) were females. An asymmetric hypertrophy pattern was observed in 25 (23%) patients. Mean LVEF was 52 ± 14%, with 39 patients (37%) showing a LVEF < 50%. Atrial fibrillation (56%) and a pseudo-infarct pattern (63%) were the commonest ECG findings. Only 22 patients fulfilled QRS low-voltage criteria while 10 showed LV hypertrophy on ECG. Although heart failure was the most frequent profile leading to diagnosis (68%), 7% of individuals presented with atrioventricular block and 11% were diagnosed incidentally. Almost one third (35; 32%) were previously misdiagnosed. CONCLUSION: The clinical spectrum of ATTRwt is heterogeneous and differs from the classic phenotype: women are affected in a significant proportion; asymmetric LV hypertrophy and impaired LVEF are not rare and only a minority have low QRS voltages. Clinicians should be aware of the broad clinical spectrum of ATTRwt to correctly identify an entity for which a number of disease-modifying treatments are under investigation.

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