Late-onset Fabry disease: the cardiac sequela

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Fabry disease (FD) is a rare genetic disorder.
• Late-onset FD phenotypes can be challenging to diagnose.
• Cardiac manifestations are common in FD.

Observation:

• A patient presented with atrial fibrillation and left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy.
• Over 14 years, he developed heart failure, kidney disease, neuropathy, hearing loss, and GI symptoms.
• A c.146 G>C GLA variant was identified, confirming late-onset FD.

Findings:

• The patient's constellation of symptoms led to FD diagnosis through enzyme activity and genetic testing.
• Endomyocardial biopsy confirmed FD.
• Enzyme replacement therapy was initiated.

Implications:

• This case highlights the importance of considering FD in patients with unexplained LVH and systemic symptoms.
• Early diagnosis of FD is critical for effective management and preventing disease progression.
• Meticulous attention to cardiac 'red flags' can aid in early FD detection.