Fabry disease and hypertrophic cardiomyopathy: similar albeit different

Abstract Background Fabry disease (FD) is a lysosomal storage that affects one or multiple organ systems and can cause left ventricular hypertrophy (LVH). FD mimic hypertrophic cardiomyopathy (HCM), clinicians occasionally miss the diagnosis of for HCM. The factors associated with FD-HCM misdiagnosis remain unclear. Purpose We sought to determine prevalence among patients LVH uncover misdiagnosis. Methods searched online databases all studies performed screening in reporting prevalence. constructed list diagnosed collected their clinical, echocardiographic, electrocardiographic characteristics GLA gene mutation. classified as symmetric asymmetric mutations missense non-missense. calculated adjusted founder effect. later divided into two groups depending on whether they were misdiagnosed HCM (Group 1) not 2). used chi-square Student's t-test, respectively, compare quantitative qualitative variables Group 1 2. Results Thirty-one (n=11434 patients) met inclusion criteria. There 148 FD, after adjusting effect, (n=117) was 1%. number 2) respectively 109 (73.6%) 39 (26.4%). Patients more likely have an asymmetrical LVH, χ2(1, N=148)=18.6, p<0.001, mutation, N=112)=7.8, p=0.0053 normal renal function, N=148)=16.2, p<0.001. genetic results five missing. maximal wall thickness (LVWT) (M=19.84, SD=0.95) compared 2 (M=17.58, SD=1.684) significantly higher, t(109)=2.44, p=0.0165, data missing 37 subjects. did find significant difference following factors: age, nonclassic angiokeratoma, acroparesthesia, stroke history, outflow tract obstruction, history syncope, atrioventricular block, tachyarrythmias, pacemaker defibrillator implantation. Conclusion common Asymmetrical severe are incorrectly thought be uncommon tend mislead diagnostic approach. CKD less HCM, most probable some these CKD-related LVH. To conclude, we must increase awareness red flags FD. Funding Acknowledgement Type funding sources: None.