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A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
Transient ischemic attack in hereditary hemorrhagic telangiectasia
Gino Gialdini1, Alberto Chiti, Michelangelo Mancuso
1Department of Clinical and Experimental Medicine, Division of Neurology, University of Pisa, Via Roma 67-56126 Pisa, Italy. gino23g10@yahoo.it
The American Journal of Emergency Medicine
|February 6, 2013
Summary
Hereditary hemorrhagic telangiectasia (HHT) patients frequently experience strokes due to pulmonary arteriovenous malformations. Saline contrast transcranial Doppler effectively detects the right-to-left shunt causing these events.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder characterized by abnormal blood vessel formation.
- Cerebrovascular events, including transient ischemic attack (TIA) and ischemic stroke, are common complications in HHT patients.
- Pulmonary arteriovenous malformations (PAVMs) are frequently associated with HHT and can lead to paradoxical embolism.
Observation:
- A 53-year-old woman with a history of epistaxis presented with transient diplopia and unbalance.
- Cerebrovascular screening revealed a right-to-left shunt using saline contrast transcranial Doppler.
- Chest CT scan identified three PAVMs, and genetic testing confirmed a deletion in the endoglin gene (ENG), indicating HHT type 1.
Findings:
- The patient's neurological symptoms were attributed to a right-to-left shunt caused by PAVMs.
- Saline contrast transcranial Doppler proved effective in detecting the shunt.
- Antithrombotic therapy for secondary cerebrovascular prevention was discontinued due to severe epistaxis.
Implications:
- Saline contrast transcranial Doppler serves as a valuable non-invasive tool for diagnosing right-to-left shunts in HHT patients.
- Early detection and management of PAVMs are crucial for preventing cerebrovascular complications in HHT.
- Understanding the link between PAVMs and neurological events in HHT is vital for clinical practice and patient care.
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