Elsevier

Canadian Journal of Cardiology

Volume 36, Issue 9, September 2020, Pages 1554.e1-1554.e3
Canadian Journal of Cardiology

Case Report
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

https://doi.org/10.1016/j.cjca.2020.04.008Get rights and content

Abstract

The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistochemistry. In the presence of a hypertrophic cardiomyopathy phenotype, the systematic search for unusual findings is mandatory to rule out a phenocopy.

Résumé

On a observé la coexistence de mutations des gènes GLA (Pro259Ser, c.775C>T) et MYBPC3 (c.1351+2T>C) chez une patiente atteinte d’une cardiomyopathie hypertrophique. L’examen histologique a révélé une vacuolisation importante et la présence de corps lamellaires osmiophiles, et l’analyse par immunohistochimie a mis au jour la présence de globotriaosylcéramides (Gb3). En présence d’un phénotype de cardiomyopathie hypertrophique, il est impératif de rechercher systématiquement les anomalies afin d’écarter la possibilité d’une phénocopie.

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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