Why the study?
How do different α-galactosidase A gene mutations (p.D322E vs p.I232T) affect the clinical and cardiovascular phenotype in families with Fabry disease?
Observational (n=41)
How do different α-galactosidase A gene mutations (p.D322E vs p.I232T) affect the clinical and cardiovascular phenotype in families with Fabry disease?
Different missense mutations in Fabry disease can lead to similar prominent cardiovascular disease (LVH) at similar ages despite markedly different residual α-GalA activities.
Residual α-GalA activity may not predict cardiovascular phenotype in these Fabry mutations; leaves open genotype-phenotype correlations and modifier roles.
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Aðalsteinsdóttir et al. (2017) conducted an observational in Fabry Disease and Hypertrophic Cardiomyopathy (n=41). α-galactosidase A gene mutations (p.D322E or p.I232T) was evaluated on Clinical manifestations and left ventricular hypertrophy.
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