[Isolated left ventricular hypertrophy : is it a Fabry disease?]

Area of Science:

• Genetics and rare diseases
• Metabolic disorders
• Cardiology

Background:

• Fabry disease is an X-linked genetic disorder caused by deficient alpha-galactosidase A enzyme activity.
• This deficiency leads to the accumulation of glycosphingolipids throughout the body.
• Two main forms exist: a severe multisystemic classical form and an attenuated cardiac variant form.

Purpose of the Study:

• To describe the clinical presentation of Fabry disease, focusing on cardiac involvement.
• To highlight the association between Fabry disease and hypertrophic cardiomyopathy.
• To emphasize the diagnostic characteristics of cardiac involvement in Fabry disease.

Main Methods:

• Review of clinical data and literature on Fabry disease.
• Analysis of enzymatic activity levels for disease classification.
• Correlation of clinical presentation with diagnostic imaging (ECG, echocardiography, MRI).

Main Results:

• Hypertrophic cardiomyopathy is a common adult manifestation, driving morbidity and mortality in Fabry disease.
• The cardiac variant form, the most prevalent, often presents with isolated cardiomyopathy.
• Specific ECG, echocardiographic, and MRI findings are indicative of Fabry disease-related cardiomyopathy.

Conclusions:

• Fabry disease necessitates awareness of cardiac complications, particularly hypertrophic cardiomyopathy.
• Early suspicion and characteristic diagnostic findings are crucial for managing the cardiac variant form.
• Understanding these aspects improves the diagnosis and management of Fabry disease patients.