Case ReportA Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy
Section snippets
Case
A 63-year-old Italian woman with history of juvenile asymptomatic paroxysmal Mobitz type I second-degree atrioventricular (AV) block was admitted to our hospital for atypical chest pain. Standard 12-lead electrocardiography showed sinus rhythm with right bundle branch block and negative lateral T waves. Cardiac troponin I variation was not indicative of acute myocardial injury (232-227-224 ng/L, reference range [RR] < 40 ng/L), and coronary arteries appeared normal on angiography.
Discussion
Cardiac involvement in Anderson-Fabry (AF) disease is one of the most disabling organ damages, causing HCM, conduction disturbances, and arrhythmias. Different missense mutations in the GLA gene with replacement of the Pro259 amino acid have been reported to cause either the classic or the late-onset phenotype and suggesting a relevant role of this amino acid in the protein function.2,3 Pro259Ser mutation was reported by Kwon et al. in a 59-year-old man with HCM and perinucleolar vacuolisation
Funding Sources
The authors have no funding sources to declare.
Disclosures
F.P. received speaker fees from Shire. C.R. and E.B. received speaker fees from Shire Italia Spa (now named Takeda) and Sanofi-Genzyme, Italia. The other authors have no conflicts of interest to disclose.
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Cited by (0)
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