Consensus recommendation on Fabry disease diagnosis in adult patients with left ventricular hypertrophy

2014 ◽  
Vol 111 (2) ◽  
pp. S99 ◽  
Author(s):  
Bouwien Smid ◽  
Linda van der Tol ◽  
Franco Cecchi ◽  
Perry Elliott ◽  
Derralynn Hughes ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Disease Diagnosis ◽  
Left Ventricular ◽  
Adult Patients ◽  
Consensus Recommendation

Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease

Cardiology ◽  
2017 ◽  
Vol 137 (2) ◽  
pp. 67-73 ◽  
Author(s):  
Olga Azevedo ◽  
Miguel Gago ◽  
Gabriel Miltenberger-Miltenyi ◽  
Paulo Gaspar ◽  
Nuno Sousa ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Nonsense Mutation ◽  
Ventricular Hypertrophy ◽  
Large Family ◽  
Disease Diagnosis ◽  
Left Ventricular ◽  
The Novel ◽  
Complete Evaluation ◽  
Gla Gene

We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.

scholarly journals Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy

2016 ◽  
Vol 13 (5) ◽  
pp. 340-346 ◽  
Author(s):  
Martina Gaggl ◽  
Natalija Lajic ◽  
Georg Heinze ◽  
Till Voigtländer ◽  
Raute Sunder-Plassmann ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular

scholarly journals Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy

2019 ◽  
Vol 83 (9) ◽  
pp. 1901-1907 ◽  
Author(s):  
Satoshi Yamashita ◽  
Masao Saotome ◽  
Hiroshi Satoh ◽  
Jun Kajihara ◽  
Yusaku Mochizuki ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Primary Screening

SCREENING FABRY DISEASE IN NON-SELECTIVE MALE PATIENTS WITH LEFT VENTRICULAR HYPERTROPHY

2019 ◽  
Vol 73 (9) ◽  
pp. 766
Author(s):  
Alex Pui-Wai Lee ◽  
Josie T.Y. Chow ◽  
Kevin K.H. Kam ◽  
Yiting Fan ◽  
David Chan ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Male Patients

scholarly journals Strategies of Screening for Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy

2019 ◽  
Vol 94 (8) ◽  
pp. 1644-1646
Author(s):  
Sergey Moiseev ◽  
Ekaterina Karovaikina ◽  
Alexey Moiseev ◽  
Nikolai Bulanov ◽  
Victor Fomin
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular
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