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Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation by Olga Azevedo; Miguel F. Gago; Gabriel Miltenberger-Miltenyi; Ana Raquel Robles; Maria Antónia Costa; Olga Pereira; Ana Teresa Vide; Gonçalo Castelo Branco; Sónia Simões; Maria José Guimarães; Ana Salgado; Nuno Sousa; Damião Cunha is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Background The common __GLA__ gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our study aims to deepen the knowledge on the natural history of this late-onset variant. ## Methods 203 consecutive adult Fabry patients with p.F113L mutation (79 males; mean age 46 ± 18 years), from this region, were submitted at baseline to a predefined diagnostic protocol. The occurrence of FD manifestations was analyzed in each decade of age in both genders. ## Results In males, left ventricular hypertrophy (40.2%) and late gadolinium enhancement (21.4%) arose over 30 years; heart failure (HF) (21.9%), ventricular tachycardia (8.9%) and conduction disorders over 40 years; and bifascicular (13.1%) and complete atrioventricular blocks (5.9%) beyond 50 years of age. Cardiac manifestations occurred more commonly and 1–2 decades earlier in males; their frequency increased with age. Septum and posterior wall thickness, LV mass, QRS interval duration and pro-BNP levels increased with age in both genders. Mean survival free from HF (64 ± 1 vs. 76 ± 2

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Author

Olga Azevedo; Miguel F. Gago; Gabriel Miltenberger-Miltenyi; Ana Raquel Robles; Maria Antónia Costa; Olga Pereira; Ana Teresa Vide; Gonçalo Castelo Branco; Sónia Simões; Maria José Guimarães; Ana Salgado; Nuno Sousa; Damião Cunha

Published

2020

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)