PMID- 32531501 OWN - NLM STAT- MEDLINE DCOM- 20201008 LR - 20201008 IS - 1097-6744 (Electronic) IS - 0002-8703 (Linking) VI - 226 DP - 2020 Aug TI - Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy? PG - 114-126 LID - S0002-8703(20)30112-5 [pii] LID - 10.1016/j.ahj.2020.04.006 [doi] AB - BACKGROUND: Fabry disease (FD) is a treatable cause of hypertrophic cardiomyopathy (HCM). We aimed to determine the independent predictors of FD and to define a clinically useful strategy to discriminate FD among HCM. METHODS: Multicenter study including 780 patients with the ESC definition of HCM. FD screening was performed by enzymatic assay in males and genetic testing in females. Multivariate regression analysis identified independent predictors of FD in HCM. A discriminant function analysis defined a score based on the weighted combination of these predictors. RESULTS: FD was found in 37 of 780 patients with HCM (4.7%): 31 with p.F113L mutation due to a founder effect; and 6 with other variants (p.C94S; p.M96V; p.G183V; p.E203X; p.M290I; p.R356Q/p.G360R). FD prevalence in HCM adjusted for the founder effect was 0.9%. Symmetric HCM (OR 3.464, CI95% 1.151-10.430), basal inferolateral late gadolinium enhancement (LGE) (OR 10.677, CI95% 3.633-31.380), bifascicular block (OR 10.909, CI95% 2.377-50.059) and ST-segment depression (OR 4.401, CI95% 1.431-13.533) were independent predictors of FD in HCM. The score ID FABRY-HCM [-0.729 + (2.781xBifascicular block) + (0.590xST depression) + (0.831xSymmetric HCM) + (2.130xbasal inferolateral LGE)] had a negative predictive value of 95.8% for FD, with a cut-off of 1.0, meaning that, in the absence of both bifascicular block and basal inferolateral LGE, FD is a less probable cause of HCM, being more appropriate to perform HCM gene panel than targeted FD screening. CONCLUSION: FD prevalence in HCM was 0.9%. Bifascicular block and basal inferolateral LGE were the most powerful predictors of FD in HCM. In their absence, HCM gene panel is the most appropriate step in etiological study of HCM. CI - Copyright (c) 2020 The Author(s). Published by Elsevier Inc. All rights reserved. FAU - Azevedo, Olga AU - Azevedo O AD - Cardiology Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimaraes, Portugal, member of the European Reference Network on Hereditary Metabolic Disorders (MetabERN); Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimaraes, Portugal. Electronic address: olgazevedo@yahoo.com.br. FAU - Marques, Nuno AU - Marques N AD - Cardiology Department, Centro Hospitalar Universitario do Algarve, Faro, Portugal; Algarve Biomedical Center, Faro, Portugal; Biomedical Science and Medicine Department, Algarve University, Faro, Portugal. FAU - Reis, Liliana AU - Reis L AD - Cardiology Department, Centro Hospitalar Universitario de Coimbra, Coimbra, Portugal. FAU - Cruz, Ines AU - Cruz I AD - Cardiology Department, Hospital Garcia de Orta, Almada, Portugal. FAU - Craveiro, Nuno AU - Craveiro N AD - Cardiology Department, Hospital de Santarem, Santarem, Portugal. FAU - Antunes, Hugo AU - Antunes H AD - Cardiology Department, Centro Hospitalar de Tondela e Viseu, Viseu, Portugal. FAU - Lourenco, Carolina AU - Lourenco C AD - Cardiology Department, Centro Hospitalar do Tamega e Sousa, Penafiel, Portugal. FAU - Gomes, Renata AU - Gomes R AD - Cardiology Department, Hospital de Santo Espirito, Terceira, Portugal. FAU - Guerreiro, Rui Azevedo AU - Guerreiro RA AD - Cardiology Department, Hospital do Espirito Santo, Evora, Portugal. FAU - Faria, Ricardo AU - Faria R AD - Cardiology Department, Centro Hospitalar Medio Ave, Vila Nova de Famalicao, Portugal. FAU - Sa, Fernando AU - Sa F AD - Cardiology Department, Centro Hospitalar Universitario de Leiria, Leiria, Portugal. FAU - Lima, Rui AU - Lima R AD - Cardiology Department, Unidade Local de Saude do Alto Minho, Viana do Castelo, Portugal. FAU - Gaspar, Paulo AU - Gaspar P AD - Organelle Biogenesis & Function Group, Instituto de Investigacao e Inovacao em Saude (I3S), Porto, Portugal; Institute of Molecular and Cell Biology (IBMC), Universidade do Porto, Porto, Portugal. FAU - Faria, Rui AU - Faria R AD - Communication and Society Research Centre, University of Minho, Braga, Portugal. FAU - Miltenberger-Miltenyi, Gabriel AU - Miltenberger-Miltenyi G AD - Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimaraes, Portugal; Genetics Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimaraes, Portugal, member of the European Reference Network on Hereditary Metabolic Disorders (MetabERN). FAU - Sousa, Nuno AU - Sousa N AD - Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimaraes, Portugal. FAU - Cunha, Damiao AU - Cunha D AD - Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimaraes, Portugal. CN - group of investigators LA - eng PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't DEP - 20200418 PL - United States TA - Am Heart J JT - American heart journal JID - 0370465 SB - IM MH - Adult MH - Aged MH - Cardiomyopathy, Hypertrophic/*etiology MH - Fabry Disease/*complications/*diagnosis/genetics MH - Female MH - Humans MH - Male MH - Middle Aged MH - Pedigree EDAT- 2020/06/13 06:00 MHDA- 2020/10/09 06:00 CRDT- 2020/06/13 06:00 PHST- 2019/08/22 00:00 [received] PHST- 2020/04/12 00:00 [accepted] PHST- 2020/06/13 06:00 [pubmed] PHST- 2020/10/09 06:00 [medline] PHST- 2020/06/13 06:00 [entrez] AID - S0002-8703(20)30112-5 [pii] AID - 10.1016/j.ahj.2020.04.006 [doi] PST - ppublish SO - Am Heart J. 2020 Aug;226:114-126. doi: 10.1016/j.ahj.2020.04.006. Epub 2020 Apr 18.