Researchers from the US created an imaging-based cardiac risk score that allows the stratification of patients with Duchenne muscular dystrophy (DMD) in terms of mortality. The score can be quickly calculated during a clinic visit and identify patients who are at a higher risk of early death, according to the study.

Cardiovascular disease is the main cause of death among patients with DMD. However, there is significant variation among patients, with some patients having rapidly progressing cardiomyopathy and dying at a young age and some surviving into adulthood.

It is, therefore, of great importance to be able to identify patients who are at a greater risk of early death so that they can be monitored more closely and treated more intensively, the researchers noted.


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The study is published in the journal Pediatric Cardiology.

Read more about the complications of DMD

The cardiac risk score describes the onset and progression of left ventricular dysfunction and late gadolinium enhancement. The researchers validated it using patients with DMD prospectively enrolled in ongoing observational studies, which included cardiac magnetic resonance data. 

They identified 69 such patients whose risk scores could be calculated. Of these patients, 12 died during the study.

The median risk score of all the patients was 3, and the highest score was 9. A total of 11 patients had a risk score of 0.

The researchers also calculated “the overall risk score applied at the most recent imaging age was associated with mortality at a median age of 17 years.” The scores did not change with time, and none of the patients with a risk score of less than 2 died.

DMD is a rare genetic disease caused by a mutation in the DMD gene, which codes for a protein called dystrophin that is essential for the health of muscles. In the absence of dystrophin, muscle tissue gets damaged at each contraction and is replaced by scar tissue. 

Reference

Starnes JR, Crum K, George-Durrett K, et al. Novel cardiac imaging risk score for mortality prediction in Duchenne muscular dystrophy. Pediatr Cardiol. Published online November 2, 2022. doi:10.1007/s00246-022-03040-6