Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey

Perry Elliott; Robert Baker; Ferdinando Pasquale; Giovanni Quarta; Hatim Ebrahim; Atul B Mehta; Derralynn A Hughes; ACES study group

doi:10.1136/heartjnl-2011-300364

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey

Perry Elliott, Robert Baker, Ferdinando Pasquale, Giovanni Quarta, Hatim Ebrahim, Atul B Mehta, Derralynn A Hughes, ACES study group

Research output: Contribution to journal › Article › peer-review

164 Citations (Scopus)

Abstract

The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.

Original language	English
Pages (from-to)	1957-60
Number of pages	4
Journal	Heart
Volume	97
Issue number	23
DOIs	https://doi.org/10.1136/heartjnl-2011-300364
Publication status	Published - Dec 2011

Keywords

Aged
Cardiomyopathy, Hypertrophic
Cross-Sectional Studies
Europe
Fabry Disease
Female
Genetic Testing
Humans
Male
Middle Aged
Mutation
Prevalence
alpha-Galactosidase

Access to Document

10.1136/heartjnl-2011-300364

Cite this

@article{269bf2810dd8497ca7c494b3bec54d0e,

title = "Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey",

abstract = "The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.",

keywords = "Aged, Cardiomyopathy, Hypertrophic, Cross-Sectional Studies, Europe, Fabry Disease, Female, Genetic Testing, Humans, Male, Middle Aged, Mutation, Prevalence, alpha-Galactosidase",

author = "Perry Elliott and Robert Baker and Ferdinando Pasquale and Giovanni Quarta and Hatim Ebrahim and Mehta, {Atul B} and Hughes, {Derralynn A} and {ACES study group} and Michael Frenneaux",

year = "2011",

month = dec,

doi = "10.1136/heartjnl-2011-300364",

language = "English",

volume = "97",

pages = "1957--60",

journal = "Heart",

issn = "1355-6037",

publisher = "BMJ Publishing Group",

number = "23",

}

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy : the European Anderson-Fabry Disease survey. / Elliott, Perry; Baker, Robert; Pasquale, Ferdinando; Quarta, Giovanni; Ebrahim, Hatim; Mehta, Atul B; Hughes, Derralynn A; ACES study group.

In: Heart, Vol. 97, No. 23, 12.2011, p. 1957-60.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy

T2 - the European Anderson-Fabry Disease survey

AU - Elliott, Perry

AU - Baker, Robert

AU - Pasquale, Ferdinando

AU - Quarta, Giovanni

AU - Ebrahim, Hatim

AU - Mehta, Atul B

AU - Hughes, Derralynn A

AU - ACES study group

AU - Frenneaux, Michael

PY - 2011/12

Y1 - 2011/12

N2 - The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.

AB - The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.

KW - Aged

KW - Cardiomyopathy, Hypertrophic

KW - Cross-Sectional Studies

KW - Europe

KW - Fabry Disease

KW - Female

KW - Genetic Testing

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Prevalence

KW - alpha-Galactosidase

U2 - 10.1136/heartjnl-2011-300364

DO - 10.1136/heartjnl-2011-300364

M3 - Article

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JF - Heart

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