Marfan's syndrome presenting with abdominal aortic aneurysm: A case for vigilance

Ugwu, B T; Ardill, William; Yiltok, SJ; Momoh, J. T.; Lenkop, Dw W.; Uba, FA

doi:10.4314/wajm.v22i1.27990

Cited by 3 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our experience, symptomatic aortic aneurysms are generally uncommon in our practice with occasional cases reported in the literature. [10][11][12] Our three cases seen in indigenous African Blacks within a period of four years suggest that AAA may be more common than hitherto perceived. The three patients were sixty years and below and had hypertensive disease while one was both hypertensive and diabetic.…”

Section: Discussionmentioning

confidence: 94%

“…Diligent scanning techniques involving multiple positions and numerous transducer angulations is necessary for adequate visualization of the renal artery origins (Cases I and II). [12] Where the involvement of these branched vessels origins cannot be excluded and aortography cannot also be performed, involvement of renal artery origins can then be assumed when it is not possible to palpate the upper limit of the aneurysm below the xiphisternum with the patient lying flat (only 5% of cases). [2] Employing this logical principle, we could exclude renal artery origins in case III.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Abdominal aortic aneurysm and the challenges of management in a developing country: A review of three cases

Sule

Ardil²,

Ojo

2012

Ann Afr Med

View full text Add to dashboard Cite

There is an increase in the incidence of abdominal aortic aneurysm (AAA) over the last six decades, probably as a result of higher longevity and lifestyle changes witnessed in the years following World War II. Though earlier studies mainly from Southern Africa suggest abdominal aortic aneurysms as uncommon amongst black Africans, recent reports from Africa emphasized an increasing incidence of vascular diseases and its sequelae including AAA. There are, however, few documented case reports of AAA in our environment over the years suggesting the rarity of this disease. We report the management and outcome of three different types of infrarenal AAA with synthetic graft in a General Surgery Unit over a four-year period between 2001 and 2005. Follow-up evaluation confirmed a successful outcome in two patients. Abdominal aortic aneurysms may be occurring more frequently than reported in our environment and its management, using basic evaluation techniques, can be successfully achieved with reasonable outcome when performed in a non-specialized unit by General Surgeons in institutions with limited resources. Contrary to the popularly held view of rarity of AAA, the disease may be increasing in incidence amongst black African. Its evaluation and treatment is also feasible with the availability of reconstructive graft in a non-specialized surgical unit.

show abstract

Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Abdominal aortic aneurysm and the challenges of management in a developing country: A review of three cases

Sule

Ardil²,

Ojo

2012

Ann Afr Med

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

Reference values for paediatric abdominal aorta on B-mode ultrasound – an outer-to-outer methodology

Oluwole¹

2023

Pediatr Radiol

View full text Add to dashboard Cite

Marfan's syndrome presenting with abdominal aortic aneurysm: A case for vigilance

Cited by 3 publications

References 10 publications

Abdominal aortic aneurysm and the challenges of management in a developing country: A review of three cases

Abdominal aortic aneurysm and the challenges of management in a developing country: A review of three cases

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

Reference values for paediatric abdominal aorta on B-mode ultrasound – an outer-to-outer methodology

Contact Info

Product

Resources

About