Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France - 12/10/23
, Amira Zaroui a, b, c, d, Marie de Tournemire a, b, c, Mounira Kharoubi a, b, c, d, Romain Gounot a, d, e, Arnault Galat a, b, Soulef Guendouz a, b, Benoit Funalot a, d, f, Emmanuel Itti a, d, g, Louise Roulin a, d, e, Vincent Audard a, h, i, Pascale Fanen a, b, f, Vincent Leroy a, b, i, Elsa Poulot f, j, Karim Belhadj a, d, e, Sophie Mallet a, b, Gagan Deep Singh Chadah a, b, Violaine Planté-Bordeneuve a, d, k, Thierry Gendre a, d, k, Xavier Chevalier a, d, l, Sandra Guignard a, d, l, Emilie Bequignon a, d, m, Sophie Bartier a, d, m, Thierry Folliguet a, d, n, François Lemonier a, d, e, Etienne Audureau c, d, Denis Tixier a, o, Florence Canoui-Poitrine c, d, Jean-Pascal Lefaucheur a, d, p, Sarah Souvannanorath a, d, q, Francois-Jerome Authier a, d, q, Steven Maupou a, b, Luc Hittinger a, b, d, Valérie Molinier-Frenkel a, d, r, Jean-Philippe David a, c, d, s, Amaury Broussier a, c, d, s, Silvia Oghina a, b, c, Emmanuel Teiger a, b, c, d
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Highlights |
• | Cardiac amyloidosis can cause heart failure, but remains under-recognised. |
• | Over 11 years, wild-type transthyretin amyloidosis (ATTRwt) became predominant. |
• | Cardiac involvement was more severe in amyloid light chain (AL) vs ATTRwt. |
• | Among variant ATTRv, ATTR Val122Ile became the predominant mutation diagnosed. |
Abstract |
Background |
Early cardiac amyloidosis (CA) diagnosis enables patients to access effective treatments for better long-term outcomes, yet it remains under-recognised, misdiagnosed and inadequately managed.
Aim |
To reduce diagnostic delays, we aimed to describe the epidemiological and clinical characteristics and changes over an 11-year period.
Methods |
This was a retrospective, observational cohort study of all patients referred to the Henri-Mondor Hospital for suspected CA.
Results |
Overall, 3194 patients were identified and 3022 were included and analysed. Our patients came from varied ethnic backgrounds, and more than half (55.2%) had confirmed CA. Over 11 years, referrals increased 4.4-fold, mostly from cardiologists. Notably, wild-type transthyretin amyloidosis (ATTRwt) became the predominant diagnosis, with referrals increasing 15-fold from 20 in 2010–2012 to 308 in 2019–2020. The number of amyloid light chain (AL) diagnoses increased, whilst variant transthyretin amyloidosis (ATTRv) numbers remained relatively stable. Concerning disease severity, AL patients presented more frequently with severe cardiac involvement whereas an increasing number of ATTRwt patients presented with National Amyloid Centre stage I (22.0% in 2013–2014 to 45.9% in 2019–2020). Lastly, among patients diagnosed with ATTRv in 2019–2020, 83.9% had ATTR Val122Ile cardiac phenotype.
Conclusions |
This study shows that increasing cardiologist awareness and referrals have increased CA diagnoses. With improved awareness and non-invasive diagnostic techniques, more patients with ATTRwt with milder disease and more ATTRv Val122Ile mutations are being referred and diagnosed. Although more AL cases are being recognised, patients are diagnosed with severe cardiac involvement.
Le texte complet de cet article est disponible en PDF.Keywords : Cohort study, Epidemiological characteristics, Clinical characteristics, Cardiac amyloidosis
Plan
Vol 116 - N° 10
P. 433-446 - octobre 2023 Retour au numéro
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