Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation

Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): 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 CunhaAbstractBackgroundThe 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.Methods203 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.ResultsIn 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 i...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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Source: Revista Espanola de Cirugia Oral y Maxilofacial - Category: ENT & OMF Source Type: research
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Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
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