Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

Ashrita Raghuram; Sebastian Sanchez; Yongjun Lu; Meredith Hickerson; Maria Belen Solis Mayorga; Javier M Romero; Satsuki Matsumoto; Patricia L Musolino; Edgar A Samaniego

doi:10.1016/j.jstrokecerebrovasdis.2022.106938

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Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

Journal article

Open access

Peer reviewed

Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

Ashrita Raghuram, Sebastian Sanchez, Yongjun Lu, Meredith Hickerson, Maria Belen Solis Mayorga, Javier M Romero, Satsuki Matsumoto, Patricia L Musolino and Edgar A Samaniego

Journal of stroke and cerebrovascular diseases, Vol.32(3), 106938

01/06/2023

DOI: 10.1016/j.jstrokecerebrovasdis.2022.106938

PMCID: PMC9928873

PMID: 36621119

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https://pmc.ncbi.nlm.nih.gov/articles/PMC9928873/pdf/nihms-1863441.pdfView

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Abstract

Mutations in the MYH11 gene result in smooth muscle cell dysfunction and are associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric patient with a stroke and a pathogenic MYH11 IVS32G>A mutation, and a phenotype similar to ACTA2. A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI. A 12-year-old girl presented with a right middle cerebral artery occlusion. She received thrombolysis and underwent mechanical thrombectomy. An extensive stroke work-up was negative. A three-generation pedigree showed a splice site mutation of MYH11 IVS32G>A of the proband and three more family members. A 7T-MRI showed "broomstick-like" straightening of distal arterial segments, a V-shaped anterior corpus callosum and a post-stroke cystic area of encephalomalacia. This vascular appearance and parenchymal abnormalities typically present in patients with an ACTA2 phenotype. 7T-MRI also demonstrated thickening of the right middle cerebral arterial wall. This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations. This is the first report of arterial wall thickening in a MYH11 stroke patient using 7T-MRI. Patients with MYH11 mutations may display a focal cerebral steno-occlusive arteriopathy that may lead to stroke.

Arteriopathy

Case report

MYH11

Pediatric stroke

Details

Title: Subtitle: Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient
Creators: Ashrita Raghuram - University of Iowa
Sebastian Sanchez - University of Iowa
Yongjun Lu - University of Iowa
Meredith Hickerson - Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, IA, United States
Maria Belen Solis Mayorga - Department of Neurology, The University of Iowa Hospitals and Clinics, Iowa City, IA, United States
Javier M Romero - Massachusetts General Hospital
Satsuki Matsumoto
Patricia L Musolino - Massachusetts General Hospital
Edgar A Samaniego
Resource Type: Journal article
Publication Details: Journal of stroke and cerebrovascular diseases, Vol.32(3), 106938
DOI: 10.1016/j.jstrokecerebrovasdis.2022.106938
PMID: 36621119
PMCID: PMC9928873
NLM abbreviation: J Stroke Cerebrovasc Dis
ISSN: 1052-3057
eISSN: 1532-8511
Grant note: DOI: 10.13039/100000002, name: National Institutes of Health, award: 1S10RR028821-01
Language: English
Date published: 01/06/2023
Academic Unit: Neurology; Radiology; Critical Care; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics); Neurosurgery
Record Identifier: 9984357456802771

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