GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Ândrea Virgínia Ferreira ChavesManuel MarkmanEveline Barros CaladoRicardo Flores PiresMarcelo Antônio Oliveira Santos-VelosoCatarina Maria Fonseca PereiraAndréa Bezerra de Melo da Silveira LordsleemSandro Gonçalves de LimaBrivaldo Markman FilhoDinaldo Cavalcanti de OliveiraPublished in: Arquivos brasileiros de cardiologia (2019)
in this study, the frequency of mutation in the GLA gene in patients with HCM 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 FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.