Top Things to Know: State-of-the-Art Imaging of Infiltrative Cardiomyopathies

Published: November 02, 2023

Prepared by Katherine A. Sheehan, PhD, Science and Medicine Advisor

Infiltrative cardiomyopathies (CMs) include a range of conditions caused by deposition of abnormal substances within the myocardium.
Pathological processes such as increased wall thickness, inflammation, microvascular dysfunction, and fibrosis are common and can result in abnormal myocardial filling, chamber dilation and disruption of the conduction system.
Although advanced disease can present as heart failure and arrhythmias, infiltrative CMs have often been misdiagnosed or diagnosed late because the gold standard for diagnosis has been invasive endocardial biopsy.
This scientific statement reviews advances in cardiac imaging that are replacing biopsy for the initial diagnosis, risk stratification and guidance for therapy for infiltrative CMs.
Common infiltrative CMs addressed in the statement include several types of cardiac amyloidosis, Anderson Fabry disease, cardiac sarcoidosis, and iron overload cardiomyopathy. Less common infiltrative CMs that are also discussed include Danon disease, Friedreich’s ataxia, Pompe Disease, PRKAG2 syndrome and various mucopolysaccharidoses.
Strategies for imaging in the diagnosis and treatment of these conditions are described, such as echocardiography, cardiac magnetic resonance imaging (CMR) radionuclide imaging including cardiac scintigraphy, SPECT, and PET imaging.
In summary, advances in cardiac imaging have enabled more accurate diagnosis of several infiltrative cardiomyopathies that previously may have been misclassified or unrecognized. Along with advancing technology, this holds promise to improve non-invasive diagnostic and monitoring accuracy for patients with these conditions.

View the summary for State-of-the-Art Imaging of Infiltrative Cardiomyopathies

Citation

Kottam A, Hanneman K, Schenone A, Daubert MA, Sidhu GD, Gropler RJ, Garcia MJ; on behalf of the American Heart Association Committee on Cardiovascular Imaging and Intervention Committee of the Council on Cardiovascular Radiology and Intervention. State-of-the-art imaging of infiltrative cardiomyopathies: a scientific statement from the American Heart Association [published online ahead of print November 2, 2023]. Circ Cardiovasc Imaging. doi: 10.1161/HCI.0000000000000081