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Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis

 Jiwon Seo  ;  Minji Kim  ;  Geu-Ru Hong  ;  Dae-Seong Kim  ;  Jang-Won Son  ;  In Jeong Cho  ;  Chi Young Shim  ;  Hyuk-Jae Chang  ;  Jong-Won Ha  ;  Namsik Chung 
 Journal of Human Genetics, Vol.61(9) : 775-780, 2016 
Journal Title
 Journal of Human Genetics 
Issue Date
Adult ; Aged ; Biomarkers ; Cardiomyopathy, Hypertrophic/diagnosis* ; Cardiomyopathy, Hypertrophic/etiology* ; DNA Mutational Analysis ; Disease Management ; Echocardiography ; Electrocardiography ; Fabry Disease/complications ; Fabry Disease/diagnosis* ; Fabry Disease/genetics* ; Genetic Testing ; Humans ; Male ; Middle Aged ; Mutation ; Phenotype ; alpha-Galactosidase/blood ; alpha-Galactosidase/genetics
This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120?ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ?3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
서지원(Seo, Jiwon) ORCID logo https://orcid.org/0000-0002-7641-3739
심지영(Shim, Chi Young) ORCID logo https://orcid.org/0000-0002-6136-0136
장혁재(Chang, Hyuck Jae) ORCID logo https://orcid.org/0000-0002-6139-7545
정남식(Chung, Nam Sik)
조인정(Cho, In Jeong)
하종원(Ha, Jong Won) ORCID logo https://orcid.org/0000-0002-8260-2958
홍그루(Hong, Geu Ru) ORCID logo https://orcid.org/0000-0003-4981-3304
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