Genetic and heritable considerations in patients or families with both intracranial and extracranial aneurysms

Huguenard, Anna L.; Gupta, Vijayalaxmi; Braverman, Alan C.; Dacey, Ralph G.

doi:10.3171/2020.8.jns203234

Cited by 5 publications

(2 citation statements)

References 76 publications

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“…Cerebral aneurysms are described in 10% to 18% of patients with Loeys-Dietz syndrome. 1,9,11,20 The frequency of follow-up screening for cerebral aneurysm disease in patients without aneurysms on initial screening will depend on the patient’s age and may be informed by phenotype or other features. 11…”

Section: Aneurysmsmentioning

confidence: 99%

“…7 All the Loeys-Dietz syndrome genes confer a risk for aortic involvement distal to the aortic root along with branch vessel and intracranial aneurysms. 1,8-11 Most clinical information is available in patients with TGFBR1 and TGFBR2 pathogenic variants. 1,8 Pathogenic variants in SMAD3 are associated with premature osteoarthritis and later onset of TAD.…”

Section: Aneurysmsmentioning

confidence: 99%

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2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines

Isselbacher¹,

Preventza²,

Black³

et al. 2022

Circulation

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647

410

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Aim: The “2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease” provides recommendations to guide clinicians in the diagnosis, genetic evaluation and family screening, medical therapy, endovascular and surgical treatment, and long-term surveillance of patients with aortic disease across its multiple clinical presentation subsets (ie, asymptomatic, stable symptomatic, and acute aortic syndromes). Methods: A comprehensive literature search was conducted from January 2021 to April 2021, encompassing studies, reviews, and other evidence conducted on human subjects that were published in English from PubMed, EMBASE, the Cochrane Library, CINHL Complete, and other selected databases relevant to this guideline. Additional relevant studies, published through June 2022 during the guideline writing process, were also considered by the writing committee, where appropriate. Structure: Recommendations from previously published AHA/ACC guidelines on thoracic aortic disease, peripheral artery disease, and bicuspid aortic valve disease have been updated with new evidence to guide clinicians. In addition, new recommendations addressing comprehensive care for patients with aortic disease have been developed. There is added emphasis on the role of shared decision making, especially in the management of patients with aortic disease both before and during pregnancy. The is also an increased emphasis on the importance of institutional interventional volume and multidisciplinary aortic team expertise in the care of patients with aortic disease.

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