Cardiac magnetic resonance imaging (MRI) may be a highly accurate alternative to echocardiography for monitoring cardiomyopathy associated with hereditary transthyretin amyloidosis (hATTR), an article published in the European Heart Journal-Cardiovascular Imaging suggests.

This pilot study compared the utility of multimodal imaging techniques for monitoring the cardiac response to patisiran in 13 patients with mixed phenotype hATTR caused by Glu54Gln mutation. All patients had both cardiac involvement and aggravated neuropathy.

The participants underwent a complete clinical, paraclinical, and comprehensive echocardiography evaluation, including myocardial deformation assessment, prior to starting patisiran treatment in 2021 and at the most recent follow-up. Complementary cardiac MRI was performed at baseline and at 1-year follow-up in 5 patients.

After 1 year of patisiran treatment, researchers found no significant change in New York Heart Association functional class and NT-B-type natriuretic peptide levels, yet a 6-minute walk test could not be performed due to polyneuropathy-related impairment.

Read more about hATTR diagnosis

According to the results, echocardiography showed no significant change in left ventricular maximal wall thickness, left ventricular mass index, left ventricular ejection fraction, stroke volume, or myocardial deformation. These findings were aligned with biological parameters and strongly suggestive of disease stability.

Cardiac MRI confirmed no significant variations between baseline and follow-up in left ventricular maximal wall thickness, left ventricular mass index, and left ventricular ejection fraction. Moreover, it found no difference in the visually assessed late gadolinium enhancement distribution, native T1, T2, or extracellular volume fraction values. The researchers established a strong correlation between echocardiography and MRI for left ventricular ejection fraction, left ventricular end-diastolic and end-systolic volumes, and left ventricular mass index.

“Even if used after more than 3 years from first diagnosis in our cohort, structural and functional cardiac parameters remain stable under patisiran therapy,” Neculae and colleagues noted.

Read more about hATTR testing

“Our study highlights the utility of introducing cardiac MRI as an alternative to echocardiography in cardiac hATTR disease monitoring protocols, based on its high accuracy, strong correlations, and complexity of derived parameters,” the researchers concluded.

Cardiac hATTR is marked by the extracellular deposition of amyloid fibrils in the heart. Although new therapies for this condition have improved life quality and survival, myocardial changes during treatment have not been explored in detail.


Neculae G, Adam R, Badelita S, et al. Cardiac MRI as a possible alternative to echocardiography for therapeutic response monitoring in ATTR cardiomyopathy: a multiparametric evaluation in patisiran treated patients. Eur Heart J Cardiovasc Imaging. Published online June 19, 2023. doi:10.1093/ehjci/jead119.394