UNEXPECTED IDENTIFICATION OF FABRY DISEASE AMONG PATIENTS WITH THE CLINICAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY IN ICELAND

Berglind Adalsteinsdottir,Polakit Teekakirikul,Barry Maron,Michael Burke,Ragnar Danielsen,Marianna Gardarsdottir,Runolfur Palsson,Robert Desnick,Christine Seidman,Jonathan G. Seidman,Gunnar Gunnarsson

UNEXPECTED IDENTIFICATION OF FABRY DISEASE AMONG PATIENTS WITH THE CLINICAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY IN ICELAND

2014

Berglind Adalsteinsdottir
Polakit Teekakirikul
Barry Maron
Michael Burke
Ragnar Danielsen
Marianna Gardarsdottir
Runolfur Palsson
Robert Desnick
Christine Seidman
Jonathan G. Seidman
Gunnar Gunnarsson

The aim of this study was to investigate the prevalence of Fabry disease (FD) among all hypertrophic cardiomyopathy (HCM) patients in Iceland. 137 patients with clinically diagnosed HCM were studied; 76 carried the MYBPC3 c.927-2A>G founder mutation; the remaining 61 underwent targeted sequencing

Keywords:

Founder mutation
Hypertrophic cardiomyopathy
Fabry disease
Diabetes mellitus
Internal medicine
Medicine
Cardiology
clinical diagnosis

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