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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

Figure 2.

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

Figure 4.

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
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.