ABC | Volume 113, Nº1, July 2019

Original Article Chaves-Markman et al A novel mutation in Fabry disease Arq Bras Cardiol. 2019; 113(1):77-84 Limitations The main limitations of our study were: the absence of sample calculation, the small sample size due to the disease rarity and the small number of patients with GLA mutations (statistical analyses were limited). Also, molecular analysis of sarcomeric genes in patients with HCM was not performed. T1 mapping was performed on MRI images only for patient 4. At the time of the other scans, MRI T1 mapping was not available at our institution. The authors understand that a renal or cardiac biopsy could be performed to confirm pathogenicity for those uncertain variants. Conclusion In this study, the frequency of mutations in the GLA gene in patients with hypertrophic cardiomyopathy was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and Fabry disease should be ruled out. Plasma lyso-GB3 levels do not seem to be sufficient to attain a diagnosis, and organ biopsy should be considered. Author contributions Conception and design of the research: Chaves-Markman AV, Markman Filho B, Oliveira DC; Acquisition of data: Chaves-Markman AV, Markman M, Calado EB, Pereira CMF, Lordsleem, ABMS; Analysis and interpretation of the data: Chaves-Markman AV, Santos-Veloso MAO, Lima SG, Markman Filho B, Oliveira DC; Statistical analysis: Lima SG, Oliveira DC; Writing of the manuscript: Chaves-Markman AV, Calado EB, Pires RF; Critical revision of the manuscript for intellectual content: Chaves-Markman AV, Markman Filho B, Oliveira DC. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding There were no external funding sources for this study. Study Association This article is part of the thesis of Doctoral submitted by Ândrea Virgínia Chaves-Markman from Universidade Federal de Pernambuco. 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