Cardiac manifestations in Fabry disease

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Fabry disease is an X-linked genetic disorder affecting glycosphingolipid metabolism due to alpha-galactosidase A deficiency.
• It leads to progressive accumulation of lipids in lysosomes, impacting various organs, notably the cardiovascular system.
• Cardiac involvement can be the primary or sole manifestation in some patients.

Purpose of the Study:

• To detail the spectrum of cardiac manifestations in Fabry disease.
• To analyze myocardial and valvular abnormalities, and electrocardiographic changes.
• To correlate cardiac findings with clinical symptoms and assess potential therapeutic endpoints.

Main Methods:

• Review of clinical data and cardiac assessments in a cohort of Fabry disease patients.
• Analysis of echocardiographic findings, including left ventricular structure and function.
• Evaluation of electrocardiographic patterns and reported cardiac symptoms.

Main Results:

• Left ventricular hypertrophy (LVH) without cavity dilatation is the most common finding.
• Diastolic dysfunction is frequent and a primary cause of dyspnea; severe restrictive patterns were not observed.
• Valvular abnormalities, conduction defects (AV blocks), and repolarization changes are common, often linked to LV structural changes.

Conclusions:

• Cardiac involvement in Fabry disease is diverse, ranging from hypertrophy to diastolic dysfunction and valvular issues.
• Electrocardiographic abnormalities correlate with structural cardiac changes.
• Left ventricular mass assessment is a potential surrogate marker for therapeutic efficacy in Fabry disease.