Peripheral pulmonary artery stenoses in the setting of Moyamoya

Moceri, Pamela; Laïk, Jérémy; Bouvaist, Hélène; Fraisse, Alain; Ferrari, Émile

doi:10.1093/ehjci/jew006

Cited by 3 publications

(2 citation statements)

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“…On retrospective review, symptomatic coronary disease was noted in 5% of individuals with idiopathic moyamoya disease in a Korean population, where the population frequency of coronary artery disease is less than 1% [29]. There have also been published cases of individuals with moyamoya and peripheral pulmonary artery stenosis with post-stenotic aneurysms [30]. Additionally, renal artery involvement has been noted in 5-8% of multiple series of individuals with moyamoya in Japan and the Republic of Korea, and a renal artery evaluation has been recommended in general for individuals who have moyamoya concomitant with hypertension [31][32][33].…”

Section: Discussionmentioning

confidence: 99%

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Duker

Kinderman

Jordan³

et al. 2021

Orphanet J Rare Dis

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Background Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the pericentrin gene (PCNT). Aside from its classic features, there are multiple associated medical complications, including a well-documented risk of neurovascular disease. Over the past several years, it has become apparent that additional vascular issues, as well as systemic hypertension and kidney disease may also be related to MOPDII. However, the frequency and extent of the vasculopathy was unclear. To help address this question, a vascular substudy was initiated within our Primordial Dwarfism Registry. Results Medical records from 47 individuals, living and deceased, ranging in age from 3 to 41 years of age were interrogated for this purpose. Of the total group, 64% were diagnosed with moyamoya, intracranial aneurysms, or both. In general, the age at diagnosis for moyamoya was younger than aneurysms, but the risk for neurovascular disease was throughout the shortened lifespan. In addition to neurovascular disease, renal, coronary and external carotid artery involvement are documented. 43% of the total group was diagnosed with hypertension, and 17% had myocardial infarctions. A total of 32% of the entire cohort had some form of chronic kidney disease, with 4% of the total group necessitating a kidney transplant. In addition, 38% had diabetes/insulin resistance. Ages of diagnoses, treatment modalities employed, and location of vasculopathies were notated as available and applicable, as well as frequencies of other comorbidities. Conclusions It is now clear that vascular disease in MOPDII is global and screening of the cardiac and renal vessels is warranted along with close monitoring of blood pressure. We recommend a blood pressure of 110/70 mmHg as a starting point for an upper limit, especially if the individual has a history of neurovascular disease, chronic kidney disease and/or diabetes. Additionally, providers need to be at high alert for the possibility of myocardial infarctions in young adults with MOPDII, so that appropriate treatment can be initiated promptly in an acute situation.

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Section: Discussionmentioning

confidence: 99%

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Duker

Kinderman

Jordan³

et al. 2021

Orphanet J Rare Dis

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“…However, the therapeutic effect of drugs on MMD with PAH is not obvious ( 12 , 20 ), and there are not enough case studies. At the same time, there is a controversy about the application of angioplasty in MMD with PAH ( 20 , 37 ). Vasculopathy in MMD involves intimal hyperplasia of smooth muscle cells and possibly results in immediate elastic recoil or progressive restenosis, which has been noted during angioplasty of cerebral arteries in patients with MMD ( 88 ).…”

Section: Diagnosis and Treatmentmentioning

confidence: 99%

Ring Finger Protein 213 in Moyamoya Disease With Pulmonary Arterial Hypertension: A Mini-Review

Luo

Cao

et al. 2022

Front. Neurol.

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Moyamoya disease (MMD), most often diagnosed in children and adolescents, is a chronic cerebrovascular disease characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. Recently, many investigators show a great interest in MMD with pulmonary arterial hypertension (PAH). Ring finger protein 213 (RNF213) is a major susceptibility gene for MMD and also has strong correlations with PAH. Therefore, this review encapsulates current cases of MMD with PAH and discusses MMD with PAH in the aspects of epidemiology, pathology, possible pathogenesis, clinical manifestations, diagnosis, and treatment.

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Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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Peripheral pulmonary artery stenoses in the setting of Moyamoya

Cited by 3 publications

References 0 publications

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

Ring Finger Protein 213 in Moyamoya Disease With Pulmonary Arterial Hypertension: A Mini-Review

Western Moyamoya Phenotype: A Scoping Review

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