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Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism? Cover

Difficulties in Diagnosing Fabry Disease in Patients with Unexplained Left Ventricular Hypertrophy (LVH): Is the Novel GLA Gene Mutation a Pathogenic Mutation or Polymorphism?

Open Access
|Jul 2023

Figures & Tables

Figure 1.

Genetic analysis showed the NM_000169.2:IVS6-10G>A (c.1000-10G>A) mutation consistent with the diagnosis of Fabry Disease
Genetic analysis showed the NM_000169.2:IVS6-10G>A (c.1000-10G>A) mutation consistent with the diagnosis of Fabry Disease

Figure 2.

Genetic analysis showed the NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) mutation
Genetic analysis showed the NM_000169.2:c.937G>T (p.D313Y) (p.Asp313Tyr) mutation

Figure 3.

Genetic analysis revealed the NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met) mutation
Genetic analysis revealed the NM_000169.2:c.941A>T (p.K314M) (p.Lys314Met) mutation

Figure 4.

Prevalence of Fabry disease in various populations in patients with unexplained LVH
Prevalence of Fabry disease in various populations in patients with unexplained LVH

Demographic, clinical, and echocardiographic characteristics in patients with unexplained left ventricular hypertrophy

HCM (n=120)
Male / Female, n (%)51 (42%) / 69 (58%)
Age (years)60.3±15.7
BMI (kg/m2)26.3 ± 4.7
HT, n (%)19 (16%)
DM, n (%)7 (6%)
HPL, n (%)16 (13%)
CAD, n (%)5 (4%)
Ejection fraction (%)61.4 ± 4.8
Interventricular septal wall thickness (mm)15.2 ± 5.4
Posterior wall thickness (mm)13.5 ± 2.1
LV end-diastolic diameter (mm)50.4 ± 5.2
LV end-systolic diameter (mm) 30.8 ± 8.5
Left atrial diameter (mm)44.5 ± 6.5
Language: English
Page range: 43 - 50
Published on: Jul 31, 2023
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2023 N Aladağ, H Ali Barman, A Şipal, T Akbulut, M Özdemir, S Ceylaner, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.