Risk Factors for Cerebral Infarction in Duchenne Muscular Dystrophy: Review With our 2 Cases

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Abstract

Background: Although the incidence of cerebral infarction is higher in Duchenne muscular dystrophy (.75 per 100) than in the general population (7.5-11.4 per 100 000), only 18 cases have been reported, and prevention and management guidelines for infarction in this disorder remain lacking. Patients and Methods: We encountered 2 cases of Duchenne muscular dystrophy with cerebral infarction. To clarify risk factors for such infarction in Duchenne muscular dystrophy, we reviewed 20 cases, including our 2 patients. Results: Age at onset of infarction ranged from 4 to 31 years (n = 19). Most patients were 16-21 years old (14 of 19; 73.7%). Eighteen patients (90%) had dilated cardiomyopathy (DCM), showing a higher frequency than in the age-matched general Duchenne muscular dystrophy population. Left ventricular ejection fraction (LVEF) ranged from 10.2% to 42% (median, 20%; n = 9). Detectable cardiac thrombus and atrial fibrillation were rare (2 of 17; 11.8%, and 1 of 17; 5.9%, respectively). Conclusions: Presence of DCM with low LVEF seems to be the strongest risk factor for cerebral infarction in Duchenne muscular dystrophy.

Introduction

Duchenne muscular dystrophy (DMD) is an X-linked progressive myopathy caused by mutations within the dystrophin gene. Although advancement of management such as mechanical ventilation techniques and therapeutic interventions for cardiomyopathy has improved life expectancy for these individuals, other complications including cerebral infarction occasionally arise. The incidence of cerebral infarction in DMD is reported to be .75 per 100, which is 100 times higher compared to the incidence of ischemic stroke in general young male adults (7.5-11.4 per 100,000).1, 2 However, no guideline recommendations have been established for the prevention and management of cerebral infarction in DMD patients. Here we present 2 cases of DMD with cerebral infarction that we encountered, and review those cases and the 18 other reported cases to clarify the features of DMD patients who develop cerebral infarction.

Section snippets

Patient 1

A 19-year-old DMD patient with dilated cardiomyopathy (DCM) was referred to us with amnesia, disorientation, and somnolence that were identified on awakening in the morning. He showed deletion of exons 48-50 in the dystrophin gene and was nonambulatory, but did not have respiratory failure necessitating a ventilator. The family history, including of vascular diseases, was unremarkable. He had been on glucocorticoid therapy (prednisolone 5 mg/kg/day, given twice a week) since he was 8 years old.

Results

Tables 1 and 2 show the profile and the clinical features of 20 patients. Age at diagnosis of infarction ranged from 4 to 31 years (n = 19), with ages of individual cases described for 14 patients (range, 4-31 years; median, 18 years; interquartile range, 15-21 years). The cause of infarction in the 4-year-old boy might have been Mycoplasma pneumoniae infection, so exclusion of this patient resulted in an age range of 13-31 years (median, 19 years; interquartile range, 16-21 years). In the

Discussion

The incidence of cerebral infarction in DMD patients has been reported as .75 per 100 or 1 per 100 patients-years, roughly 100 times higher than that in the general young male adult population aged 18-44 years (7.5-11.4 per 100,000).1, 2, 4 Prevention and early detection of cerebral infarction in DMD patients are thus crucially important. However, management guidelines are lacking for cerebral infarction in DMD patient.4, 12

With this review, including our own cases, we tried to characterize the

Conclusion

Physicians should be aware of the high risk of cerebral infarction in nonambulatory DMD patients between 16 and 21 years old, particularly in those with DCM. LVEF less than around 40% might be an additional risk factor. Testing the coagulation system, echocardiography including transesophageal echocardiography to detect intracardiac thrombus, and ECG to detect fibrillation may be recommended for such high-risk patients. Further investigation is necessary to establish guideline recommendations

Conflicts of Interest

None of the authors have any conflicts of interest to declare.

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