Abstract
BackgroundAlthough it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. There is limited information in the published literature on the distribution of myocardial fibrosis in patients with AFD, with scar reported principally in the basal inferolateral midwall.MethodsAll patients with confirmed AFD undergoing CMR at our center were included. Left ventricular (LV) volumes, wall thicknesses and scar were analyzed offline. Patients were categorized into 4 groups: 1) no wall thickening; 2) concentric hypertrophy; 3) asymmetric septal hypertrophy (ASH); and 4) apical hypertrophy. Charts were reviewed for clinical information.ResultsThirty-nine patients were included (20 males [51 %], median age 45.2 years [range 22.3–64.4]). Almost half (17/39) had concentric wall thickening. Almost half (17/39) had pathologic LV scar; three quarters of these (13/17) had typical inferolateral midwall scar. A quarter (9/39) had both concentric wall thickening and typical inferolateral scar. A subgroup with ASH and apical hypertrophy (n = 5) had greater maximum wall thickness, total LV scar, apical scar and mid-ventricular scar than those with concentric hypertrophy (n = 17, p < 0.05). Patients with elevated LVMI had more overall arrhythmia (p = 0.007) more ventricular arrhythmia (p = 0.007) and sustained ventricular tachycardia (p = 0.008).ConclusionsConcentric thickening and inferolateral mid-myocardial scar are the most common manifestations of AFD, but the spectrum includes cases morphologically identical to apical and ASH subtypes of HCM and these have more apical and mid-ventricular LV scar. Significant LVH is associated with ventricular arrhythmia.Electronic supplementary materialThe online version of this article (doi:10.1186/s12968-016-0233-6) contains supplementary material, which is available to authorized users.
Highlights
It is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this
Thirty-nine patients met inclusion criteria
CMR, with its high spatial resolution, is ideally suited to assess patterns of LV wall thickening [24], to our knowledge, this is the first paper in the CMR literature that has set out to document the spectrum of wall thickening patterns in AFD and by implication, the potential overlap with HCM with which it may be confused
Summary
It is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. Genetic testing is used to diagnose AFD, cardiovascular magnetic resonance (CMR) is often performed for accurate volumetric and functional analysis in this disease and to characterize the myocardium. It is recognized from the echocardiography literature that AFD may mimic the morphological characteristics of the various subtypes of hypertrophic cardiomyopathy. There is limited information in the published literature on the distribution of myocardial late gadolinium enhancement (LGE) in patients with AFD, with enhancement reported principally in the basal inferolateral midwall [14,15,16]. We aimed to use the superior myocardial characterization and spatial resolution of CMR to catalogue the full spectrum of LGE patterns and distribution of left ventricular wall thickening seen in this rare disease
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