Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

Monserrat, Lorenzo; Gimeno-Blanes, Juan Ramón; Marín, Francisco; Hermida-Prieto, Manuel; García-Honrubia, Antonio; Pérez, Inmaculada; Fernández, Xusto; Nicolás, R; Morena, Gonzalo de la; Payá, Eduardo; Yagüe, Jordi; Egido, Jesús

doi:10.1016/j.jacc.2007.06.062

Cited by 256 publications

(166 citation statements)

References 25 publications

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“…6,15 To date, 0.25-1% of males receiving dialysis therapy because of renal failure, 3-4% of males with hypertropic cardiomyopathy, and 5% of males with acute cryptogenic stroke, have been identified as having Fabry disease. 2,5,[10][11][12][13]15,27 In this respect, a screening …”

Section: Discussionmentioning

confidence: 99%

“…The cardiac variant refers to manifestations confined to left ventricular hypertrophy, conduction abnormalities or cardiomyopathy without other systemic manifestations. [7][8][9][10] Patients with the renal variant usually present with proteinuria and renal insufficiency without classical manifestations. However, most such patients also show cardiac manifestations, [11][12][13][14] indicating that the renal variant might be intermediate between the cardiac variant and classical disease.…”

Section: Introductionmentioning

confidence: 99%

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Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

et al. 2010

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

et al. 2010

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“…16 To date, a few variant types of Fabry disease have been identified; their manifestations are primarily limited to the heart, kidneys, or brain. 8,[20][21][22][23][24] It is, however, very difficult to identify Fabry disease in dialysis patients because patients with variants of Fabry disease often lack symptoms that are observed in the classic form. Recently, several studies have investigated the prevalence of Fabry disease in dialysis patients.…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients

et al. 2012

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Fabry disease-a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity-presents with multiorgan manifestations, including progressive renal disease. Recently, its prevalence has been reported to be higher in hemodialysis (HD) patients than in the general population. We, therefore, examined patients on maintenance dialysis living in the Nagasaki Prefecture, Japan, to clarify the prevalence of Fabry disease. We screened 933 patients on maintenance dialysis, who were residents of Nagasaki Prefecture in Japan, for α-galactosidase A activity using a dried blood spot on filter paper. Patients with low α-galactosidase A activity were clinically assessed; subsequently, genetic analysis of the α-Galactosidase A gene (MIM:30064) was performed in these patients. Of the 933 patients, 55 had low α-galactosidase A activity; of these, one male and two females had α-Galactosidase A mutations. The prevalence of Fabry disease was thus 0.32%, which was similar to that reported previously. However, one mutation was newly identified, while the E66Q mutation observed in two patients was as previously identified. These two patients with the E66Q mutation were excluded because of the possibility of polymorphism; the prevalence of Fabry disease in the HD population was finally calculated to be 0.11%. The prevalence of Fabry disease in patients on maintenance dialysis living in Nagasaki Prefecture was 0.32%. Dried blood spot screening was considered as a simple and effective method for screening patients on maintenance dialysis for Fabry disease.

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“…LVH is the most frequent cardiac manifestation of FD, and thereby FD represents an important differential diagnosis in patients with unexplained hypertrophic cardiomyopathy (Kampmann et al 2002;Sachdev et al 2002;Monserrat et al 2007;Elliott et al 2011). In contrast to other hypertrophic cardiomyopathies, FD-associated hypertrophy of significant degree seldom develops in young patients (Kampmann et al 2008a).…”

Section: Left Ventricular Mass and Left Ventricular Hypertrophymentioning

confidence: 99%

Early Cardiac Changes in Children with Anderson–Fabry Disease

et al. 2013

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Objective: Limited evidence is available about the early cardiac manifestation of Fabry disease (FD) in children. We aimed to evaluate cardiac involvement in children with FD by analysing serial structural and electrocardiographic changes.Methods: The data were acquired from 22 children with FD [11 males; median age 9.8 (ranging 2.5-16) years]. Seven patients (5 males) were on enzyme replacement therapy (ERT) with Agalasidase alpha. Echocardiography, ECG and 24-h ECG monitoring recordings were acquired during routine annual clinical controls. ECG data were compared to a group of age-and gender-matched controls.Results: At baseline, ECG and ECHO parameters of left ventricular mass were similar in both males and females. Three boys (all were on ERT) developed left ventricular hypertrophy (LVH) during two-year follow-up. The progression to LVH was accompanied by the appearance of frequent ventricular premature beats in two cases and supraventricular premature beats (SPBs) with T wave inversion in one case. T wave inversion and SPBs were detected in two younger relatives of a patient with LVH, in the absence of detectable LVH. Seven out of 22 patients had T wave abnormalities. Five of them were males (p ¼ 0.03) all carrying the N215S mutation (p ¼ 0.03). At baseline, median PR intervals were prolonged in FD subjects compared to controls [143 (122-177) vs. 122 (82-165) ms; p < 0.0001].Conclusions: Cardiac complications of FD become apparent in childhood as subtle changes with slow but detectable progression over time, with males more frequently affected than females. Progression of LVH was apparent in three children despite ERT.

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Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

Cited by 256 publications

References 25 publications

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

Identification of a Novel Mutation and Prevalence Study for Fabry Disease in Japanese Dialysis Patients

Early Cardiac Changes in Children with Anderson–Fabry Disease

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