Screening for Fabry disease in patients with left ventricular noncompaction

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Left ventricular noncompaction (LVNC) is a rare heart muscle disorder.
• Its relationship with other cardiomyopathies, like Fabry disease (FD), is not fully understood.
• Clarifying this link is crucial for appropriate treatment.

Purpose of the Study:

• To determine the prevalence of Fabry disease (FD) in patients diagnosed with left ventricular noncompaction (LVNC).
• To investigate if LVNC is a cardiac manifestation of FD.

Main Methods:

• A retrospective analysis of 78 patients diagnosed with LVNC across eight centers.
• LVNC diagnosis confirmed by echocardiography or cardiac magnetic resonance criteria.
• Fabry disease screening using enzyme and genetic testing.

Main Results:

• No new cases of Fabry disease were identified among the 78 LVNC patients.
• The previously reported case of LVNC in an FD patient was an isolated finding.
• Common complications in LVNC patients included heart failure (60.3%) and arrhythmias (21.6%).

Conclusions:

• The findings do not support the hypothesis that left ventricular noncompaction is a cardiac manifestation of Fabry disease.
• This suggests LVNC and FD are likely independent conditions in most cases.