UC Irvine

Background

Cardiovascular disease is the most common cause of death among Fabry disease patients, who carry significantly increased risk for heart failure and sudden cardiac death. Echocardiographic strain imaging and cardiac MRI are important clinical tools for early detection of cardiomyopathy before onset of systolic or diastolic dysfunction. However, studies on these imaging modalities are limited among Fabry patients.

Aim and objective

To evaluate echocardiographic strain pattern and correlation with cardiac MRI in Fabry disease.

Materials and methods

We performed a detailed analysis of global longitudinal strain and correlation with cardiac MRI finding in 9 patients diagnosed with Fabry disease.

Results

Despite normal left ventricular ejection fraction, basal and mid inferior segments are more likely to demonstrate strain abnormalities compared to other regions. Additionally, increased interventricular septal and left ventricular posterior wall thickness are correlated with greater strain abnormalities. Finally, MRI evidence of fibrosis and infiltration are detected among most patients with strain abnormalities, but in some cases, strain imaging were able to detect early evidence of cardiomyopathy even before MRI was fully able to detect the change. Basal and mid inferoseptal segment strain abnormalities are early signs of developing cardiomyopathy among patients with Fabry disease.

Conclusion

Though cardiac MRIs are critical tools for detection of myocardial infiltration and scarring, these findings may not always be detectable in early phases of the disease. Multiple imaging modalities maybe considered in monitoring and evaluation of cardiomyopathy in Fabry disease.