CARDIAC MAGNETIC RESONANCE (E NAGEL AND V PUNTMANN, SECTION EDITORS) Contemporary View of Magnetic Resonance Imaging in Fabry Disease Silvia Valbuena-López 1 & Rocio Eiros 1 & Regina Dalmau 1 & Gabriela Guzmán 1 Published online: 1 May 2019 # Springer Science+Business Media, LLC, part of Springer Nature 2019 Abstract Purpose Fabry disease is a rare lysosomal storage disorder, whose main cause of death is cardiac. CMR provides relevant information that contributes to diagnosis, enabling staging of the disease and an appropriate start of therapy. This review intends to highlight the main strengths of this technique, where a relatively robust scientific evidence supports its use. Recent Findings CMR is useful in Fabry disease in a number of aspects. On the one hand, it helps characterize myocardial involvement, enabling accurate chamber size quantification and tissue characterization, by means of LGE, and more recently T1 mapping. Early and appropriate diagnosis of the cardiac disease can guide the start of ERT. Secondly, it has prognostic value, improving risk stratification for device therapy. Summary An integrative approach of conventional and new CMR techniques is desirable for early detection of subclinical disease, appropriate disease staging, risk stratification, and therapy guiding. T1 mapping is a particularly promising tool in this field. Keywords Fabry disease . Cardiac magnetic resonance . Left ventricular hypertrophy . Late gadolinium enhancement . T1 mapping . T2 mapping Introduction Fabry disease (FD) is a rare lysosomal storage disorder due to a deficit in α-galactosidase. As a result, glycosphingolipids accumulate in a variety of tissues, which involve a wide range of symptoms and clinical presentations. Because of its X- linked inheritance, men are usually more severely affected at an earlier age, although women present with a more unpre- dictable course that range from being asymptomatic to severe- ly diseased [1]. Cardiac, renal, and neurological involvement drive the prognosis, being cardiac disease the leading cause of death [2]. The typical presentation is a similar phenotype to hypertrophic cardiomyopathy, also with an increased risk of atrial and ventricular arrhythmias that may lead to sudden cardiac death [3]. Since an enzyme replacement therapy (ERT) has been available for several years, cardiac imaging plays an important role for a correct diagnosis and start of treatment indication. Echocardiography is the first-line cardiac assessment technique, but cardiac magnetic resonance (CMR) is superior in many aspects, providing more accurate informa- tion on cardiac morphology and function. Additionally, recent advances in tissue characterization may have a meaningful impact on the management of the disease. Diagnosis Morphology and Function CMR is the recommended approach for volumetric and func- tional analysis in FD and for tissue characterization of the myocardium. Increased left ventricular (LV) wall thickness is the hallmark feature of FD, caused by glycolipid deposition in ventricular muscle fiber, involving papillary muscles, This article is part of the Topical Collection on Cardiac Magnetic Resonance * Silvia Valbuena-López silviacayetana@gmail.com Rocio Eiros eirosbachiller@gmail.com Regina Dalmau eirosbachiller@gmail.com Gabriela Guzmán eirosbachiller@gmail.com 1 Cardiology Department, University Hospital La Paz, Paseo de la Castellana 261, 28046 Madrid, Spain Current Cardiovascular Imaging Reports (2019) 12: 22 https://doi.org/10.1007/s12410-019-9498-0