Yezan Abderrahman, MD
Pediatric Critical Care Fellow
University of Iowa Hospital and Clinics
Iowa City, IA, United States
Disclosure information not submitted.
Satsuki Matsumoto, MD
Clinical Assistant Professor, Pediatric Neurology
University of Iowa Hospitals and Clinics
Iowa City, Iowa, United States
Disclosure information not submitted.
Nicole Safina, MD
Clinical Assistant Professor, Medical Genetics
University of Iowa Hospitals and Clinics
Iowa city, Iowa, United States
Disclosure information not submitted.
Mitchell Luangrath, MD
Clinical Assistant Professor, Pediatric Critical Care
University of Iowa Hospital and Clinics
Iowa City, Iowa, United States
Disclosure information not submitted.
Title: Stroke in an Adolescent Female With History of Patent Ductus Arteriosus and MYH11 Pathogenic Variant
Case Report Body:
Introduction: Moyamoya disease usually presents as acute stroke in children. Several genes have been linked to increased risk of Moyamoya disease. Many of these remain poorly understood or identified except for a select few genes including ACTA2. Myosin heavy chain 11 (MYH11) is a gene with critical function in maintaining vascular wall stability and is associated with familial thoracic aortic aneurysm type 4 with patent ductus arteriosus (PDA). Involvement of intracranial vessels is rare.
Description: We report a healthy 12-year-old female with history of PDA diagnosed at 3 years of age and previously identified familial pathogenic variant in MYH11 (IVS32+1G >A) along with a family history of thoracic aortic aneurysms. The patient collapsed while exercising and was noted to have right conjugate gaze deviation, left-sided hemiparesis, and left-sided hemineglect, National Institute of Health Stroke Scale 17. CTA of the brain revealed a right middle cerebral artery (MCA) occlusion at the M1 segment. Her imaging also demonstrated possible signs of early development of Moyamoya disease with narrowing of the supraclinoid internal carotid artery (ICA). She was given systemic tPA and underwent mechanical thrombectomy. The clot was successfully aspirated, and angiography showed successful recanalization of the MCA branches. She received extensive hematologic work up that did not suggest an underlying procoagulant etiology. A transthoracic echocardiography showed a PDA with left to right shunt with no evidence of patent foramen ovale (PFO) on a bubble study. She was started on 81 mg of aspirin daily for secondary stroke prevention. She had overall improvement of her neurologic deficits; however, she had mild residual left sided weakness and was subsequently discharged to a rehabilitation center. Additional testing was pursued for other possible genetic etiologies including ACTA2 sequencing which was negative. No other family members with the same MYH11 pathogenic variant have had similar presentation with ischemic stroke.
Discussion: Few cases of stroke or Moyamoya disease have been reported thus far in association with MYH11. As intracranial involvement is rare, additional studies are needed to help guide health surveillance for affected patients, which may possibly need to include cerebral arterial imaging.