Extracranial Microvascular Complications of Moyamoya Disease Leading to Left Ventricular Systolic Dysfunction

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Abstract

Moyamoya disease (MMD) was first used as a descriptor for a steno-occlusive process that affects primarily the internal carotid arteries (ICA) in a bilateral fashion in 1969. Characterized by recurrent ischemic events in the developing brains of young patients, the process is one that often decimates the quality of life of affected individuals. The vascular changes in MMD have been demonstrated to occur in an extracranial manner, thus it is logical to assume that the same steno-occlusive mechanism could induce dysfunction and ischemia in other organ systems. Our case presents a patient with MMD with cardiac manifestations that we suspect may be related to extracranial manifestations of MMD.

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Most cited references 26

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Moyamoya disease and moyamoya syndrome.

R Michael Scott, Edward R Smith (2009)

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Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis.

Jeffrey Smith, David L. Robertson, G Soriano … (2004)

Moyamoya syndrome, a narrowing of the basal intracranial vessels accompanied by the development of a cloud of collateral "moyamoya" vasculature, causes cerebral ischemia and stroke. This study was undertaken to determine if a standardized neurosurgical revascularization procedure, pial synangiosis, conferred long-term benefit in pediatric patients. The authors reviewed the clinical and radiographic records obtained in a consecutive series of patients with moyamoya syndrome. Patients were 21 years of age or younger and underwent surgery performed by a single neurosurgeon during a 17-year period. There were 143 patients (89 females and 54 males). Sixteen patients were Asian. Neurofibromatosis was present in 16 patients, 13 had undergone therapeutic cranial irradiation, and Down syndrome was present in 10. In 66 there was no known predisposing condition. Stroke had occurred in 67.8% of the population and transient ischemic attacks (TIAs) in 43.4% prior to surgery. Within the first 30 days following 271 craniotomies for pial synangiosis, there were 11 episodes of stroke (7.7% per patient; 4% per surgically treated hemisphere) and three severe TIAs. Follow-up evaluation was performed in all but one patient (mean period 5.1 years). In 126 patients followed for more than 1 year, four suffered a late-onset stroke, one suffered a severe reversible TIA without magnetic resonance imaging-documented evidence of stroke, and two experienced persistent TIAs. In 46 patients followed for more than 5 years in whom the major initial presentation was stroke alone, only two late-onset strokes have occurred. Functional status at the time of surgery determined long-term functional status. Following pial synangiosis, the majority of pediatric patients with moyamoya syndrome stop having strokes and TIAs, and they appear to experience an excellent long-term prognosis.

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Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

Dong-Chuan Guo, Christina L Papke, Van Tran-Fadulu … (2009)

The vascular smooth muscle cell (SMC)-specific isoform of alpha-actin (ACTA2) is a major component of the contractile apparatus in SMCs located throughout the arterial system. Heterozygous ACTA2 mutations cause familial thoracic aortic aneurysms and dissections (TAAD), but only half of mutation carriers have aortic disease. Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. Sequencing of DNA from patients with nonfamilial TAAD and from premature-onset CAD patients independently identified ACTA2 mutations in these patients and premature onset strokes in family members with ACTA2 mutations. Vascular pathology and analysis of explanted SMCs and myofibroblasts from patients harboring ACTA2 suggested that increased proliferation of SMCs contributed to occlusive diseases. These results indicate that heterozygous ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, including TAAD, premature CAD, ischemic strokes, and MMD. These data demonstrate that diffuse vascular diseases resulting from either occluded or enlarged arteries can be caused by mutations in a single gene and have direct implications for clinical management and research on familial vascular diseases.

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Author and article information

Journal

Journal ID (nlm-ta): J Med Cases

Journal ID (iso-abbrev): J Med Cases

Journal ID (publisher-id): Elmer Press

Title: Journal of Medical Cases

Publisher: Elmer Press

ISSN (Print): 1923-4155

ISSN (Electronic): 1923-4163

Publication date (Print): March 2023

Publication date (Electronic): 31 March 2023

Volume: 14

Issue: 3

Pages: 88-94

Affiliations

[a ]Department of Medicine, The University of Tennessee Graduate School of Medicine, Knoxville, TN 37920, USA

[b ]Department of Cardiovascular Disease, The University of Tennessee Graduate School of Medicine, Knoxville, TN 37920, USA

Author notes

[c ]Corresponding Author: Sohiub N. Assaf, Department of Medicine, The University of Tennessee Graduate School of Medicine, Knoxville, TN 37920, USA. Email: Sassaf@ 123456utmck.edu

Article

DOI: 10.14740/jmc4057

PMC ID: 10079364

PubMed ID: 37032739

SO-VID: 8f579a9f-0f82-4a1b-891e-7a7b4e0de3d8

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This article is distributed under the terms of the Creative Commons Attribution Non-Commercial 4.0 International License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Extracranial Microvascular Complications of Moyamoya Disease Leading to Left Ventricular Systolic Dysfunction

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Abstract

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Most cited references 26

Moyamoya disease and moyamoya syndrome.

Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis.

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease.

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