The role of genetic testing in diagnosing Fabry's disease and its overlapping with cardiomyopathies: a case series.
Eur Heart J Case Rep
; 8(8): ytae375, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-39161721
ABSTRACT
Background:
Fabry's disease, an X-linked lysosomal storage disorder, shares cardiac manifestations with hypertrophic cardiomyopathy (HCM). We underscore the importance of considering Fabry's disease as a differential diagnosis in HCM patients, highlighting genetic testing's role in cardiomyopathy evaluation. Casesummary:
Three male patients with left ventricular hypertrophy were initially diagnosed with HCM but were later found to have Fabry's disease through genetic testing. Atypical features such as renal dysfunction and conduction abnormalities raised suspicion. Genetic testing confirmed diagnosis, guiding tailored management.Discussion:
Fabry's disease poses diagnostic challenges due to its resemblance to HCM. Genetic testing enables precise diagnosis and personalized management, especially in cases with atypical presentations. Early recognition and intervention, facilitated by genetic testing, can improve patient outcomes in Fabry's disease.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Eur Heart J Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Reino Unido