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Published on: March 23, 2022
Stroke associated with Barth syndrome
Beau M Ances1, Joseph Sullivan, John B Weigele
1Departments of Neuroscience and Radiology, University of California at San Diego, San Diego, CA, USA.
Insights
Barth syndrome, a rare genetic disorder, can lead to serious cardiovascular events like stroke. Early stroke prevention strategies may be crucial for affected individuals.
Area of Science:
- Genetics
- Cardiology
- Neurology
Background:
- Barth syndrome is a rare X-linked genetic disorder.
- It is characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy.
- Cardiovascular complications are known manifestations of Barth syndrome.
Observation:
- A case of acute stroke in a patient with Barth syndrome is presented.
- The stroke required intra-arterial thrombolysis for treatment.
- This highlights a potential severe neurological complication.
Findings:
- Barth syndrome is associated with an increased risk of stroke.
- Cardiovascular complications in Barth syndrome can manifest as cerebrovascular events.
- Intra-arterial thrombolysis can be a viable treatment option for stroke in these patients.
Implications:
- This case underscores the importance of recognizing stroke as a potential complication of Barth syndrome.
- Proactive stroke prevention strategies, possibly including antithrombotic therapy, should be considered for patients with Barth syndrome.
- Further research into the cardiovascular and neurological risks in Barth syndrome is warranted.
Abstract:
Barth syndrome is an inherited disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, and skeletal myopathy. We describe a case of acute stroke owing to Barth syndrome that required intra-arterial thrombolysis. This case suggests that cardiovascular complications can be observed in patients with Barth syndrome. Stroke prevention measures, including the use of antithrombotic agents, might be warranted.
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