Diagnosis and Management of Cardiovascular Involvement in Fabry Disease.
Heart Fail Clin
; 18(1): 39-49, 2022 Jan.
Article
in En
| MEDLINE
| ID: mdl-34776082
Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cardiomyopathy, Hypertrophic
/
Fabry Disease
Type of study:
Diagnostic_studies
Aspects:
Patient_preference
Limits:
Humans
Language:
En
Journal:
Heart Fail Clin
Year:
2022
Document type:
Article
Affiliation country:
Italy
Country of publication:
United States