[P22-04] Duchenne/Becker型を除く筋ジストロフィーにおける心病変の報告
Keywords:muscular dystrophy, cardiac magnetic resonance imaging, late gadolinium enhancement
Introduction: We reported cardiac involvement of less frequent muscular dystrophy than Duchenne/Becker muscular dystrophy. Methods: 10 had myotonic (MD), 4 had Fukuyama-type congenital (FCMD), and 1 had Emery-Dreifuss (EDMD) type muscular dystrophy. We reviewed the results of cardiac magnetic resonance imaging (cMRI) with late gadolinium enhancement (LGE), cardio-thoracic ratio of the chest X-ray (CTR), electrocardiography (ECG), left ventricular fractional shortening using echocardiography (FS), and blood testing. Results are expressed as the mean ± SD. Results: Cardiac involvements were found in 6 cases. Except 1 FCMD case, FS, and CTR was 0.39 ± 0.05, 45.2 ± 4.6, respectively. The BNP levels were 21.5 ± 14.5 pg/ml. In a patient with EDMD, LGE-cMRI changed to positive along with prolongation of the PQ time in ECG, despite of preserved cardiac function. Moreover, ventricular couplets have been observed during Holter monitoring. In 4 MD cases, ECG changed from right bundle branch block to bifascicular block despite the negative LGE-cMRI. 1 FCMD case appeared to be dilated cardiomyopathy and FS reduced to 0.15. Conclusions: In most cases, cardiac involvements were predominantly electrophysiological abnormalities. In a patient with EDMD, it was notable that electrophysiological abnormalities worsened with myocardial injury. Meanwhile, in MD cases, electrophysiological abnormalities progressed without myocardial injury. All FCMD cases had homozygous retrotransposon insertion mutations that are frequently seen in mild cases. However, one case worsened since a younger age.