Cardiac MRI can identify biomarkers in asymptomatic ATTR mutation carriers

Cardiac MRI might help identify patients with the ATTR mutation who could benefit from early intervention.

Cardiac magnetic resonance imaging (MRI) can help identify heart function abnormalities in asymptomatic carriers of genetic mutations associated with transthyretin amyloid cardiomyopathy (ATTR-CM), according to a study recently published in the Journal of Cardiovascular Development and Disease. 

Cardiac MRI is a powerful tool for diagnosing and staging patients with ATTR-CM. In this study, researchers sought to investigate if cardiac MRI can also be useful for those who carry the mutation for ATTR but do not yet have any heart symptoms. 

Read more about ATTR-CM testing and diagnosis 

The research team conducted a study on 40 patients: twenty of these patients had ATTR-CM, while the other 20 were asymptomatic ATTR mutation carriers. In addition, 20 individuals without ATTR-CM and with normal cardiac MRI findings formed the control group. 

Predictably, researchers found certain cardiac MRI features among patients with symptomatic ATTR-CM that were not present in the other groups of individuals. For example, patients with ATTR-CM had significantly elevated left ventricular end-diastolic volume index and reduced left ventricular ejection fraction, anomalies typically observed in ATTR-CM. 

However, a number of cardiac MRI features were also observed in ATTR mutation carriers. For example, these patients had impaired left ventricular global longitudinal strain, as well as reservoir, conduit and booster pump strain in the left atrium compared with the control group. These are abnormal heart imaging findings that should be absent if patients had healthy heart function.

Other values, such as native T1 and extracellular volume, were within normal range, despite these parameters appearing abnormal among patients with symptomatic ATTR-CM. 

The core finding of this study is that ATTR mutation carriers can have abnormal cardiac MRI findings that differentiate them from other individuals, even if they do not have signs of ATTR-CM yet. The identification of cardiac MRI features present in this group of patients can help enhance overall clinical management. 

“These findings suggest that myocardial strain analysis could serve as an early biomarker for subclinical ATTR-CA, offering a potential target for selecting patients who may benefit from early intervention,” the study’s authors noted.

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