ECG-based score estimates the probability to detect Fabry Disease cardiac involvement

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Fabry Disease (FD) is a genetic disorder leading to glycosphingolipid accumulation.
• Cardiac involvement is a major cause of morbidity and mortality in FD patients.
• Early detection of cardiac involvement is crucial for timely intervention.

Purpose of the Study:

• To develop and validate an electrocardiogram (ECG)-based nomogram for estimating cardiac involvement in FD.
• To identify specific ECG parameters indicative of myocardial glycosphingolipid storage detected by cardiac magnetic resonance (CMR).

Main Methods:

• 119 FD patients and 26 controls underwent ECG and CMR.
• Patients were divided into test (n=88) and validation (n=57) cohorts.
• An ECG-based nomogram was constructed using parameters associated with low myocardial T1 values (CMR surrogate for storage) and validated.

Main Results:

• Sokolow-Lyon index, Pwave/PRsegment ratio, QRS duration, and QT duration were independently associated with low T1 values on CMR.
• The developed nomogram demonstrated high accuracy in identifying cardiac involvement (c-index=0.90 in test, 0.81 in validation cohorts).

Conclusions:

• An accurate, practical ECG-based nomogram can estimate the probability of detecting cardiac involvement in FD patients.
• This nomogram can potentially improve the early detection of cardiac involvement in Fabry Disease.