A Mutant mRNA Expression in an Endomyocardial Biopsy Sample Obtained from a Patient with a Cardiac Variant of Fabry Disease Caused by a Novel Acceptor Splice Site Mutation in the Invariant AG of Intron 5 of the alpha-Galactosidase A Gene

作者：Watanabe Tohru; Hanawa Haruo^*; Suzuki Tomoyasu; Jiao Shuang; Yoshida Kaori; Ogura Minako; Ohno Yukako; Hayashi Yuka; Ito Masahiro; Kashimura Takeshi; Obata Hiroaki; Sato Akinori; Ozawa Takuya; Kodama Makoto; Sakuraba Hitoshi; Minamino Tohru

来源：Internal Medicine, 2013, 52(7): 777-780.

DOI：10.2169/internalmedicine.52.9213

• Fabry disease
• endomyocardial biopsy
• ventricular tachycardia
• intron
• alpha-galactosidase A

We herein describe the case of a 58-year-old man who presented with dilated-phase hypertrophic cardiomyopathy (HCM) and required an implantable cardioverter defibrillator implant. Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy and diagnosed following demonstration of deficient alpha-galactosidase A (GLA) activity. Molecular studies showed a novel point mutation in the 3%26apos; splice site consensus sequence of intron 5 in the gene encoding GLA that created a new splicing site, resulting in the expression of mutant mRNA. FD should be considered a cause of HCM in patients with severe tachyarrhythmia without other remarkable manifestations of FD.

• 出版日期2013