ABC | Volume 113, Nº1, Julho 2019

Minieditorial Bittencourt Nova variante do gene GLA na cardiomiopatia hipertrófica Arq Bras Cardiol. 2019; 113(1):85-86 1. Task Force Members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733-79. 2. Bittencourt MI, Mourilhe-Rocha R, Abanesi Filho FM. Hypertrophic cardiomyopathy. Rev Bras Cardiol. 2010;23(1):17-24. 3. Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, García- Honrubia A, Pérez I, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50(25):2399-403. 4. Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al. Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics. J Am Coll Cardiol. 2016;68(10):1037-50. 5. Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, Huang CH, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet. 2009;2(5):450-6. 6. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333(5):288-93. 7. Csányi B, Hategan L, Nagy V, Obál I, Varga ET, Borbás J, et al. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease with a predominant cardiac phenotype. Int Heart J. 2017;58(3):454-8. 8. Chaves-Markman AV, Markman M, Calado EB, Pires RF, Santos-Veloso MAO, Pereira CMF, et al. GLA gene mutation in hypertrophic cardiomyopathy with a newvariantdescription:IsitFabry’sdisease?ArqBrasCardiol.2019;113(1):77-84 9. Mehta A, Hughes DA. Fabry Disease: Synonyms: Anderson-Fabry disease, alpha galactosidase A deficiency. In: Pagon RA, AdamMP, Ardinger HH, et al. eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2017. [Cited in 2002 Aug 2]. Available from: https://www. ncbi.nlm.nih.gov/books/NBK1292/. Referências Este é um artigo de acesso aberto distribuído sob os termos da licença de atribuição pelo Creative Commons 86