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Updated: Jul 29, 2026

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Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

Ashrita Raghuram1, Sebastian Sanchez1, Yongjun Lu2

  • 1Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, IA, United States.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|January 9, 2023
PubMed

Insights

Mutations in the MYH11 gene can cause stroke in children, presenting with similar brain imaging findings to ACTA2 gene mutations. This study highlights arterial wall thickening in a MYH11 stroke patient using advanced MRI.

Area of Science:

  • Genetics
  • Neurology
  • Vascular Biology

Background:

  • MYH11 gene mutations are linked to smooth muscle cell dysfunction and thoracic aortic aneurysms.
  • Familial thoracic aortic aneurysms and dissection (FTAAD) are associated with MYH11 mutations.
  • Smooth muscle cell dysfunction can impact vascular integrity.

Observation:

  • A pediatric patient experienced an acute ischemic stroke due to right middle cerebral artery occlusion.
  • Genetic analysis revealed a pathogenic MYH11 IVS32G>A splice site mutation in the proband and three family members.
  • High-resolution 7T MRI demonstrated "broomstick-like" arterial straightening, corpus callosum abnormalities, and arterial wall thickening.

Findings:

  • The patient's stroke and imaging findings mimicked the phenotype typically seen in ACTA2 gene mutation patients.
  • This is the first report of arterial wall thickening in a MYH11 stroke patient visualized with 7T-MRI.
  • MYH11 mutations may lead to focal cerebral steno-occlusive arteriopathy.

Implications:

  • MYH11 mutations should be considered in pediatric stroke patients with specific vascular and brain imaging patterns.
  • The phenotypic overlap between MYH11 and ACTA2 mutations broadens the understanding of smooth muscle cell-related cerebrovascular diseases.
  • Advanced imaging techniques like 7T-MRI are crucial for characterizing vascular abnormalities in genetic arteriopathies.
Abstract

Keywords:
ArteriopathyCase reportMYH11Pediatric stroke

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