Diagnostic value of papillary muscle hypertrophy and mitral valve thickness to discriminate cardiac amyloidosis and Fabry disease

• Published in: International journal of cardiology 2024-02, Vol.397, p.131629-131629, Article 131629
• Main Authors: Mattig, Isabel, Steudel, Tilman, Barzen, Gina, Frumkin, David, Spethmann, Sebastian, Dorta, Elena Romero, Stangl, Karl, Heidecker, Bettina, Landmesser, Ulf, Knebel, Fabian, Canaan-Kühl, Sima, Hahn, Katrin, Brand, Anna
• Format: Article
• Language: English
• Subjects: Fabry Disease - diagnostic imaging; Fabry Disease - epidemiology; Humans; Hypertrophy; Mitral Valve - diagnostic imaging; Mitral Valve Insufficiency - diagnostic imaging; Mitral Valve Insufficiency - epidemiology; Papillary Muscles - diagnostic imaging; Retrospective Studies
• ISSN: 0167-5273; 1874-1754
• DOI: 10.1016/j.ijcard.2023.131629

Cardiac amyloidosis (CA) and Fabry disease (FD) cause myocardial damage but may also affect the valvular and subvalvular apparatus. We aimed to evaluate the diagnostic accuracy of new echocardiographic indices including mitral valve thickness and papillary muscle (PM) hypertrophy to differentiate CA and FD. In patients with confirmed CA and FD, a detailed assessment of valvular function, mitral valve leaflet thickness and PM area as well as PM left ventricular area ratio (PM/LV-ratio) was performed in offline analyses. Receiver operating characteristic curve analyses were conducted to determine the diagnostic accuracy of mitral valve thickness, PM hypertrophy, and PM/LV-ratio to distinguish CA from FD. We retrospectively analyzed a cohort of 129 patients (FD n = 49, CA n = 80). CA patients showed significantly more thickened mitral valve leaflets (4.1 ± 1.3 mm vs. 2.9 ± 1.1 mm, p