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

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

Fabry disease (FD) is an X-linked, lysosomal glycosphingolipid storage disorder that occurs very rarely. Cardiac involvement may comprise of left ventricular hypertrophy (LVH), arrhythmias, conduction abnormalities, heart failure and valvular abnormalities. The goal of this study was to conduct gene...

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Bibliographic Details
Main Authors: Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S
Format: Article
Language:English
Published: Sciendo 2023-07-01
Series:Balkan Journal of Medical Genetics
Subjects:
unexplained left ventricular hypertrophy
fabry disease
gla mutation
polymorphism
Online Access:https://doi.org/10.2478/bjmg-2023-0010

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