Key result
Patients with Duchenne muscular dystrophy and mutations in the Dp116 coding region had a higher cardiac dysfunction-free rate at age 25 years compared to those with other mutations (60% vs 10%).
Why the study?
Are mutations in the Dp116 coding region associated with less frequent cardiac dysfunction in patients with Duchenne muscular dystrophy compared to other mutations?
Observational (n=181)
Are mutations in the Dp116 coding region associated with less frequent cardiac dysfunction in patients with Duchenne muscular dystrophy compared to other mutations?
Absolute Event Rate: 60% vs 10%
Patients with Duchenne muscular dystrophy who have mutations in the Dp116 coding region experience significantly less frequent cardiac dysfunction compared to those with other mutations.
May not yet guide DMD cardiac surveillance by Dp116 status; hypothesis-generating association requiring prospective validation.
Background Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important nonmuscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin isoforms has not been analyzed. Methods and Results The results of 1109 echocardiograms obtained from 181 Japanese DMD patients with confirmed mutations in the DMD gene were retrospectively analyzed. Patients showed an age-related decline in left ventricular ejection fraction. Patients were divided by patterns of dystrophin isoform deficiency into 5 groups. The cardiac dysfunction-free survival was significantly higher in the group with mutations in the Dp116 coding region than the others, whereas no significant differences in the other 3 groups. At age 25 years, the cardiac dysfunction-free rate was 0.6 in the Dp116 group, but only 0.1 in others. PCR amplification of Dp116 transcript in human cardiac muscle indicated promoter activation. Conclusions Left ventricular ejection fraction in DMD declined stepwise with age. Cardiac dysfunction was less frequent in Dp116-deficient than other patients with DMD. Dp116 transcript was identified in human cardiac muscle for the first time. These results indicate that Dp116 is associated with cardiac involvement in DMD.
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Yamamoto et al. (2018) conducted an observational in Duchenne muscular dystrophy (n=181). Mutations in the Dp116 coding region vs. Mutations in other regions was evaluated on Cardiac dysfunction-free rate at age 25 years. Patients with Duchenne muscular dystrophy and mutations in the Dp116 coding region had a higher cardiac dysfunction-free rate at age 25 years compared to those with other mutations (60% vs 10%).
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