Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease-A cross-sectional study

Area of Science:

• Cardiology
• Genetics
• Biochemistry

Background:

• Fabry disease (FD) is a genetic lysosomal storage disorder.
• Cardiac conduction abnormalities and bradyarrhythmias are frequent in FD, often preceding left ventricular hypertrophy.
• Understanding determinants of bradyarrhythmia is crucial for managing cardiac complications in FD.

Purpose of the Study:

• To identify clinical, electrocardiographic, and echocardiographic predictors of bradyarrhythmic events in Fabry disease patients.
• To investigate the role of left atrial (LA) function in the development of bradyarrhythmias in FD.
• To correlate cardiac structural and functional changes with bradyarrhythmic occurrences.

Main Methods:

• A cross-sectional study involving 53 FD patients (mean age 45 years).
• Collection of clinical, electrocardiographic, and echocardiographic data, including detailed LA function assessment using biplane volumes and 2D speckle-tracking.
• Definition of bradyarrhythmic events included pacemaker implantation, sinus pauses >2 seconds, atrioventricular block, or severe bradycardia (≤40 bpm).

Main Results:

• Bradyarrhythmic events occurred in 23% of patients (pacemaker, pauses, or severe bradycardia).
• Patients with bradyarrhythmia were older, with lower resting heart rate, higher LV mass, and reduced LV ejection fraction.
• Impaired LA reservoir function was significantly associated with bradyarrhythmic events. Tachyarrhythmias like atrial fibrillation and ventricular tachycardia were also frequent.

Conclusions:

• Bradyarrhythmia is a significant manifestation of cardiac involvement in Fabry disease.
• Age, LV mass, LV ejection fraction, and LA reservoir dysfunction serve as valuable markers for predicting bradyarrhythmia in FD.
• These findings aid in risk stratification and management of cardiac complications in Fabry disease.