Title : When myotonic dystrophy meets patent foramen ovale: Insights after stroke
Abstract:
Myotonic dystrophy is an autosomal dominant (AD) condition with a genetic expansion resulting in muscle weakness and myotonia. Myotonic dystrophy disproportionately affects those of European descent, and typically presents between the second and fourth decade of life. The genetic expansion results in aberrant genetic splicing. Individuals with myotonic dystrophy have a reduced lifespan, with an average age of death around the age of fifty, predominantly due to respiratory failure or cardiac conduction abnormalities. A 53-year-old Caucasian female with a history of myotonic dystrophy presented to the emergency department with sudden onset weakness and aphasia. A stroke alert was triggered upon her arrival to the emergency department. A computed tomography (CT) scan of the head ruled out hemorrhagic stroke. Patient was found to have left middle cerebral artery and left internal carotid occlusion. During the admission, the patient was found to have a small patent foramen ovale (PFO). On the same admission, the patient was also found to be in atrial fibrillation. In most cases, identifying a PFO after ischemic stroke, dramatically reduces future embolic stroke risk and increases lifespan. In our patient, it is unclear to what extent PFO closure will impact the patient's lifespan. However, successfully identifying atrial fibrillation and subsequent ICD placement, should prolong the patient's lifespan. This case underscores the importance of maintaining a high level of suspicion for cardiac disease in those with myotonic dystrophy as an ICD can prolong the patient’s lifespan.
