Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study

Kim, S. T.; Brinjikji, Waleed; Kallmes, David F.

doi:10.3174/ajnr.a4718

Cited by 76 publications

(70 citation statements)

References 10 publications

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“…Previous data on possible association between NF1 and IA are based on case reports and small patient series[6,7,10,24,26–32], and have also been contested (Tables 3 and 4). [9] In a retrospective administrative database study from the USA, there were 28 (0,17%) SAH cases among 16918 NF1 patients over 18 years, which is within the range of SAH incidence in general population as well as our NF1 cohort.…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage

et al. 2017

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Section: Discussionmentioning

confidence: 99%

Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage

et al. 2017

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“…Intracranial aneurysms have been reported in both classical and non-classical forms of EDS, but relatively speaking it is patients with the vascular subtype of EDS who are at the highest risk for IBA formation (Chen et al 2013;Kato et al 2001;Kim et al 2016;Lummus et al 2014;Mirza et al 1979;Oderich et al 2005;Schievink et al 1990Schievink et al , 2002. Kim et al (2016) found intracranial aneurysms in 12 individuals, seven of whom had vascular EDS, from a chart review of 99 EDS patients (mean age 41.7 years) who underwent brain imaging. There is currently no consensus on the clinical utility of screening for intracranial aneurysms among otherwise asymptomatic vascular EDS patients.…”

Section: Ehlers-danlos Syndromementioning

confidence: 99%

“…Cerebrovascular bleeding is the third leading cause of death in LDS patients, and intracranial aneurysms have been seen at a frequency ranging between 10 and 28 %. (Kim et al 2016;Loeys et al 2006;Rodrigues et al 2009;Vanakker et al 2011). Although further studies are needed to assess the clinical utility of screening LDS patients specifically for intracranial aneurysms, surveillance of each part of the vascular tree is currently recommended every two years (MacCarrick et al 2014).…”

Section: Loeys-dietz Syndromementioning

confidence: 99%

“…Only one patient autopsied was found to have an intracranial aneurysm, a number that would agree with the general population frequency. However, a recent retrospective chart review of 59 Marfan syndrome patients estimated that 14 % have one or more intracranial aneurysms (Kim et al 2016). Specific screening for intracranial aneurysms is not routinely recommended in Marfan syndrome patients, though it could be considered in family members affected by Marfan syndrome who also have a first-degree relative affected by IBA, whether or not that family member also has a diagnosis of Marfan syndrome.…”

Section: Marfan Syndromementioning

confidence: 99%

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A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

Hitchcock

Gibson

2016

Journal of Genetic Counseling

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Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family. Studies using linkage analysis, genome-wide association, and next-generation sequencing have found several candidate loci and genes associated with disease onset, but have not conclusively implicated a single gene. In addition to family history, a separate or concurrent diagnosis of autosomal dominant polycystic kidney disease is a strong genetic risk factor for IBA formation. We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, Neurofibromatosis Type I, and Loeys–Dietz syndrome.

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“…Thus, MRI enables detection of arterial aneurysms other than of the aortic root, eg, of intracranial aneurysms that have a high prevalence of 14% and grading of vessels tortuosity, which is associated with a more severe aortic phenotype in MFS 73,74…”

Section: Team Membersmentioning

confidence: 99%

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

Kodolitsch¹,

Rybczynski²,

Vogler³

et al. 2016

JMDH

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Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS. First, we show how the initiative and collaboration of patient representatives, scientists, and physicians resulted in the foundation of Marfan centers, initially in the US and later in Germany, and how and why such centers evolved over time. Then, we elucidate the three main structural elements; a team of coordinators, core disciplines, and auxiliary disciplines of health care. Moreover, we explain how a multidisciplinary health care team integrates into many other health care structures of a university medical center, including external quality assurance; quality management system; clinical risk management; center for rare diseases; aorta center; health care teams for pregnancy, for neonates, and for rehabilitation; and in structures for patient centeredness. We provide accounts of medical goals and standards for each core discipline, including pediatricians, pediatric cardiologists, cardiologists, human geneticists, heart surgeons, vascular surgeons, vascular interventionists, orthopedic surgeons, ophthalmologists, and nurses; and of auxiliary disciplines including forensic pathologists, radiologists, rhythmologists, pulmonologists, sleep specialists, orthodontists, dentists, neurologists, obstetric surgeons, psychiatrist/psychologist, and rehabilitation specialists. We conclude that a multidisciplinary health care team is a means to maximize therapeutic success.

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Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study

Cited by 76 publications

References 10 publications

Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage

Neurofibromatosis type 1 is not associated with subarachnoid haemorrhage

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome

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