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. 2025 Apr 30;26(5):814-829.
doi: 10.1093/ehjci/jeaf038.

The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring

Matteo Cameli  1 , Maurizio Pieroni  2 , Maria Concetta Pastore  1 , Antonio Brucato  3 , Silvia Castelletti  4 , Lia Crotti  4   5 , Marc Dweck  6 , Andrea Frustaci  7 , Alessia Gimelli  8 , Karin Klingel  9 , Petr Kuchynka  10 , Johanna Kuusisto  11 , George Lazaros  12 , Giulia Elena Mandoli  1 , Marco Merlo  13 , James Moon  14 , Denisa Muraru  5   15 , Antonis Pantazis  16 , Angelos G Rigopoulos  17 , Arsen Ristic  18 , Leyla Elif Sade  19 , Mary N Sheppard  20 , Carsten Tschöpe  21 , Steffen E Petersen  22   23 , Massimo Imazio  24 , Yohann Bohbot, Maja Cikes, Pankaj Garg, Niall Keenan, Aniela Petrescu, Ivan Stankovic, Liliana Szabo, Valtteri Uusitalo
Affiliations

The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring

Matteo Cameli et al. Eur Heart J Cardiovasc Imaging. .

Abstract

Anderson-Fabry disease (AFD) is a rare genetic disease with X-linked transmission characterized by a defect in the enzyme alpha-galactosidase A, which impairs glycosphingolipid metabolism and leads to an excessive storage of globotriaosylceramide (Gb3) within lysosomes. AFD involves renal, cardiac, vascular, and nervous systems and is mainly observed in male patients with onset in childhood, although cardiac manifestation is often shown in adults. AFD cardiomyopathy is caused by the accumulation of Gb3 within myocytes first showed by left ventricular hypertrophy and diastolic dysfunction, leading to restrictive cardiomyopathy and systolic heart failure with biventricular involvement. The diagnosis of AFD cardiomyopathy may be insidious in the first stages and requires accurate differential diagnosis with other cardiomyopathies with hypertrophic phenotype. However, it is fundamental to promptly initiate specific therapies that have shown promising results, particularly for early treatment. A careful integration between clinical evaluation, genetic tests, and cardiac imaging is required to diagnose AFD with cardiac involvement. Basic and advanced echocardiography, cardiac magnetic resonance, and nuclear imaging may offer pivotal information for early diagnosis (Graphical Abstract), and the management of these patients is often limited to centres with high expertise in the field. This clinical consensus statement, developed by experts from the European Society of Cardiology (ESC) Working Group on Myocardial and Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC, aims to provide practical advice for all clinicians regarding the use of multimodality imaging to simplify the diagnostic evaluation, prognostic stratification, and management of cardiac involvement in AFD.

Keywords: Anderson–Fabry disease; diagnosis; imaging; left ventricular hypertrophy; treatment.

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Conflict of interest statement

Conflict of interest: A.G.R. received speaker fees from Pfizer. G.L. received honoraria from Pfizer and Menarini. J.K. received research grants for studying hypertrophic cardiomyopathy and Fabry disease (Academy of Finland, Finnish Foundation for Heart Research, Kuopio University Hospital, Shire, Sanofi, BMS); delivered an invited lecturer in meetings of the Finnish Cardiac Society, Society for Internist in Finland, European Society of Cardiology, Scandinavian Fabry Meeting, and drug companies; and was a sponsored delegate in conferences in cardiology and metabolic diseases and a temporary advisory board member of Sanofi, Amgen, Pfizer, Chiesi, and BMS. A.B.’s institution received funding from Kiniksa Pharmaceuticals, Ltd as an investigative site; unrestricted research grant from SOBI, KINIKSA, and ACARPIA; and travel and accommodation for advisory committee from SOBI and Kiniksa. K.K. received speaker fees from Pfizer. D.M. received consultancy and research support from GE Healthcare and Philips/TomTec and speakers’ fee from GE Healthcare, Philips/TomTec, and Bristol Myers Squibb. L.C. received speaker fees from Bristol Myers Squibb. S.E.P. was a consultant for Circle Cardiovascular Imaging, Inc., Calgary, Alberta, Canada.

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