Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease

Area of Science:

• Cardiology
• Genetics
• Rare Diseases

Background:

• Fabry disease is a rare genetic disorder characterized by glycosphingolipid accumulation.
• Cardiac involvement is a known complication of Fabry disease, but specific ECG findings require further elucidation.

Purpose of the Study:

• To investigate the spectrum and prevalence of electrocardiographic (ECG) abnormalities in patients with Fabry disease.
• To correlate ECG findings with disease duration, genotype (hemizygosity vs. heterozygosity), and potential underlying pathology.

Main Methods:

• Retrospective analysis of ECG and vectorcardiography (VCG) data from 32 patients with Fabry disease.
• Evaluation of rhythm, PR interval, conduction abnormalities, chamber size, and ST-T wave changes.
• Correlation of findings with clinical data, including disease duration and genetic status.

Main Results:

• Abnormal rhythms were observed in a subset of patients, with some developing over time.
• Short PR intervals (≤120 msec) and prolonged PR intervals (<140 msec) were noted.
• Conduction abnormalities, particularly intraventricular defects progressing to right bundle branch block, affected 22% of patients.
• Atrial or ventricular enlargement occurred in 60%, with left ventricular hypertrophy being most common.
• ST-T changes and one case of anterior myocardial infarction pattern were observed.
• Hemizygosity was associated with a higher burden of cardiac abnormalities compared to heterozygosity.
• Conduction defects worsened with longer disease duration.
• VCG provided no significant additional information beyond standard ECG.

Conclusions:

• Fabry disease frequently manifests with diverse ECG abnormalities, including conduction disturbances and chamber enlargement, likely due to lipid infiltration of the myocardium and conduction system.
• Recognizing these cardiac manifestations is vital for timely diagnosis and management of Fabry disease, as therapeutic interventions may be possible.
• Standard ECG is effective in detecting cardiac involvement in Fabry disease, with VCG offering limited added value.