The Fabry cardiomyopathy: models for the cardiologist

Area of Science:

• Genetics and rare diseases
• Cardiology
• Lysosomal storage disorders

Background:

• Fabry disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency.
• This deficiency leads to the accumulation of globotriaosylceramide within cells, beginning in utero.
• Cardiac involvement is a common manifestation, presenting as concentric nonobstructive left ventricular hypertrophy, a model for other cardiomyopathies.

Purpose of the Study:

• To review the characteristics of Fabry cardiomyopathy.
• To discuss current and emerging treatment strategies for Fabry disease.
• To present multidisciplinary patient care models for managing Fabry disease and potentially other cardiac disorders.

Main Methods:

• Literature review of Fabry disease, focusing on cardiac manifestations and management.
• Analysis of existing multidisciplinary care models.
• Synthesis of information on diagnosis, assessment, and treatment of Fabry cardiomyopathy.

Main Results:

• Fabry cardiomyopathy is characterized by left ventricular hypertrophy.
• Effective management requires a multidisciplinary approach.
• Care models can be adapted for other cardiac conditions.

Conclusions:

• Fabry cardiomyopathy requires specialized, multidisciplinary care.
• The presented care models offer a framework for optimizing patient management.
• Extrapolation of these models can improve clinical outcomes for various cardiac disorders.