Aneurisma intracraniano na síndrome de Marfan: a case report

Speciali, José Geraldo; Lison, Michel Pierre; Junqueira, Gilberto Lima

doi:10.1590/s0004-282x1971000400007

Cited by 14 publications

(4 citation statements)

References 18 publications

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“…This association has been based on 10 clinical reports of Marfan patients with intracranial aneurysms, [11][12][13][14][15][16][17][18][19][20] 1 pathology report describing the early development of an intracranial aneurysm in a Marfan patient, 21 and 1 autopsy series of 7 Marfan patients, 2 of whom had intracranial aneurysms. 22 By contrast, no association between Marfan syndrome and intracranial aneurysms has been found in 5 clinical series of Marfan patients.…”

mentioning

confidence: 99%

Marfan Syndrome Is Not Associated With Intracranial Aneurysms

Conway

Hutchins

Tamargo

1999

Stroke

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Background and Purpose-It has been proposed that patients with Marfan syndrome have an increased prevalence of intracranial aneurysms. This proposition is based on 10 clinical reports, 1 pathology case, and an autopsy series of 7 patients. By contrast, 5 clinical series of Marfan patients have failed to document any such relationship. We present our institution's autopsy and clinical experience with Marfan syndrome and analyze in our patient population the purported association between this condition and intracranial aneurysms. Methods-The results of an autopsy series at the Johns Hopkins Hospital of 25 confirmed Marfan syndrome patients from 1939 to the present were reviewed retrospectively. The prevalence of intracranial aneurysms in this Marfan syndrome autopsy series was compared with that in the autopsy population at this institution and with that in the general autopsy population as reported in the literature. In addition, the prevalence of Marfan syndrome in a recent neurosurgical series of 710 consecutive aneurysm cases (1990 -1998) was determined. Results-Of the 25 autopsy cases, only 1 had evidence on autopsy of an unruptured, 2-mm aneurysmal dilatation at the anterior communicating artery complex. Three autopsy patients suffered intracranial hemorrhages but had negative angiography and postmortem examinations for intracranial aneurysms. The remaining 21 patients had negative autopsies for intracranial hemorrhages or intracranial aneurysms. The neurosurgical series of 710 patients treated for intracranial aneurysms did not include any patient with Marfan syndrome. Conclusions-The prevalence of 1 patient of 25 with an intracranial aneurysm is not statistically different from the 1.3% prevalence of intracranial aneurysms in the autopsy population at this institution (Pϭ0.24) or from the 2.0% prevalence of intracranial aneurysms in the general autopsy population (Pϭ0.31). We therefore conclude that there exists no evidence that Marfan syndrome is associated with an increased prevalence of intracranial aneurysms. (Stroke. 1999;30:1632-1636.)

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confidence: 99%

Marfan Syndrome Is Not Associated With Intracranial Aneurysms

Conway

Hutchins

Tamargo

1999

Stroke

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“…These include conditions caused by mutations the TGF-ß pathway genes causing Loeys-Dietz syndrome that are known to commonly have neurovascular symptoms. Of note, as far as we know, none of the case studies of cerebral aneurysm in Marfan syndrome reported a known pathogenic FBN1 variant, although the original case by Speciali did report ectopia lentis [140].…”

Section: Cerebral Arteriesmentioning

confidence: 89%

“…Rare cases of cerebral aneurysm in Marfan syndrome have been documented since the first reported observation in 1971 [118,[140][141][142][143][144][145][146][147][148][149][150][151][152]. These case reports suggested an increased prevalence of cerebral aneurysms in Marfan syndrome compared to the general population.…”

Section: Cerebral Arteriesmentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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“…O quadro clínico característico inclui extermidades longas e delgadas, em indivíduo longilíneo, com pectus excavatus, dolicocefalia, insuficiência aórtica, aneurismas de artérias de grande calibre e alterações oculares, usualmente ectopia de cristalino, presente em cerca de 80% dos casos 3 * 6 » & . 1 0 » 13 \ Aneurismas na síndrome de Marfan foram descritos nas artérias aorta, carótida comum, subclávia, inominada, pulmonar, esplênica, ilíaca, renal, mesentérica, coronária, umeral, femural e carótida interna 9 , sendo que o óbito em geral sobrevém por aneurisma dissecante de aorta, com rotura 7 . Casos com mal-formações arteriovenosas intracranianas podem evoluir mal, com hemorragia subaracnóidea, edema cerebral coma e óbito 2 .…”

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