True abdominal aortic aneurysm in Marfan syndrome

Takayama, Tadatoshi; Miyata, Tetsuro; Nagawa, Hirokazu

doi:10.1016/j.jvs.2008.12.007

Cited by 38 publications

(32 citation statements)

References 25 publications

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“…This implies that due care during arterial catheterization and diligent management of vascular injury may mitigate these cases. Aneurysms are a recognized complication of connective tissue disorders such as Marfan's Syndrome [27] and autoimmune disorders [28]. Observations of the current study that they are associated with nearly 10% of cases is concordant with reports that these aneurysms occur typically in young populations [27,29].…”

Section: Comorbid Factorssupporting

confidence: 91%

“…Aneurysms are a recognized complication of connective tissue disorders such as Marfan's Syndrome [27] and autoimmune disorders [28]. Observations of the current study that they are associated with nearly 10% of cases is concordant with reports that these aneurysms occur typically in young populations [27,29]. Aneurysms due to these conditions are susceptible to dissection and rupture and the patients have poor life expectancy.…”

Section: Comorbid Factorssupporting

confidence: 90%

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Pattern of aneurysms among young black Kenyans

Ogeng’o

Obimbo

Olabu

et al. 2011

Indian J Thorac Cardiovasc Surg

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Background Reports on pattern of aneurysms among young people are scanty. These data are important for informing preventive and management strategies. This retrospective study at Kenyatta National Hospital, Nairobi. Kenya describes the pattern of aneurysms among young black Kenyans. Patients and methods Records of in-patients, aged up to 40 years, with a diagnosis of aneurysm between January 1998 and December 2007 were examined for localization, presentation, investigations, comorbidities, age and gender distribution. Data were analyzed by SPSS version 13.0 for Windows, and presented in tables and bar charts. Results One hundred and fifteen files were analyzed. Most frequent site was abdominal aorta (32.2%). Of these, majority (59.4%) were infrarenal. Other commonly affected arteries included thoracic aorta (11.3%), posterior communicating (7.8%), femoral (8.7%), brachial (8.7%), common carotid (6.1%) and internal thoracic (5.2%). They presented as pulsatile, often painful masses, and with pressure symptoms. Diagnosis was confirmed by ultrasound and angiography. Common comorbidities were hypertension, smoking, Human Immunodeficiency Virus infection, alcohol, trauma, and connective tissue disorders. Mean age was 26.1 years and male: female ratio was 2.7:1. Conclusion Aneurysms are not uncommon in young Kenyans. They occur more commonly in males than females, and affect diverse vascular beds. Associated comorbidities comprise non communicable lifestyle factors, infection, inborn conditions and trauma. Lifestyle modification from early in life and control of infections are recommended.

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Section: Comorbid Factorssupporting

confidence: 91%

Section: Comorbid Factorssupporting

confidence: 90%

Pattern of aneurysms among young black Kenyans

Ogeng’o

Obimbo

Olabu

et al. 2011

Indian J Thorac Cardiovasc Surg

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“…Due to the susceptibility to dissection and rupture, patients with CMN of the aorta of any etiology should be managed properly [55]. Treatment of the aortopathies relating to CMN of the aorta is difficult and entails both antihypertensive and surgical therapy.…”

Section: Fig 6 -Histology Of the Ascending Aorta Of A 45-year-old Mamentioning

confidence: 99%

Cystic medial necrosis: pathological findings and clinical implications

Yuan¹,

Hua²

2011

Rev Bras Cir Cardiovasc

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Artigo recebido em 1 de novembro de 2010 Artigo aprovado em 11 de janeiro de 2011 ResumoA necrose cística da média (NCM) é uma desordem das grandes artérias, em particular a aorta, caracterizada por acúmulo de substância basofílica na camada média com lesões císticas-símile. É sabido que a NCM ocorre em certas doenças do tecido conjuntivo tal como síndrome de Marfan, síndrome de Ehlers-Danlos, e ectasia ânulo-aórtica, que normalmente resulta de mudanças degenerativas na parede aórtica. A relação entre NCM e defeitos congênitos do coração, assim como outras desordens, tem sido evidenciada. Os mecanismos são ainda controversos, embora muitos estudos moleculares tenham sido conduzidos. O objetivo do presente artigo é fornecer uma visão geral da NCM em termos de características patológicas, implicações clínicas e etiologia baseada em resultados de pesquisa molecular. Descritores

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“…The variability of cardiovascular involvement is also illustrated by family 1 in which the apparent early onset familial AAA was the reason for referral. AAA have been reported as a feature in MFS, and in rare cases even as the presenting feature (Ooijen, ; Takayama, Miyata, & Nagawa, ; Ugwu et al, ; Wolfgarten et al, ). Family 2 in this report underlines the importance of DNA testing in individuals with a family history of young patients with AAA and the importance of regular imaging of the abdominal aorta in individuals with Marfan syndrome.…”

Section: Discussionmentioning

confidence: 99%

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Overwater

Efrat

Barge-Schaapveld

et al. 2018

Molec Gen & Gen Med

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Background Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in FBN1 have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C>T, p.(Arg485Cys) in FBN1 . Methods We provide the clinical details of two autosomal dominant families with this specific FBN1 variant, which was previously associated with autosomal recessive Marfan syndrome. Results Clinical data of 14 individuals carrying this variant from these two families were collected retrospectively. In both families, the diagnosis of autosomal dominant Marfan syndrome was established based on the characteristics of the variant and the phenotype which includes aortic aneurysms and dissections. Of interest, in one of the families, multiple relatives were diagnosed with early onset abdominal aortic aneurysms. Conclusion In conclusion, FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.

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True abdominal aortic aneurysm in Marfan syndrome

Cited by 38 publications

References 25 publications

Pattern of aneurysms among young black Kenyans

Pattern of aneurysms among young black Kenyans

Cystic medial necrosis: pathological findings and clinical implications

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

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