1887
Volume 2015, Issue 5
  • ISSN: 2305-7823
  • EISSN:

Abstract

Marfan syndrome is a genetic disease with variable clinical presentation. This case describes a 36-year-old lady who was diagnosed with Marfan syndrome based on revised Ghent criteria. She was found to have bicuspid aortic valve and sensorineural hearing loss. Inferior vena cava stenosis was suspected on echocardiography due to high velocity flow and visualization of a focal narrowing in the inferior vena cava proximal to hepatic vein entry. Inferior vena cava stenosis was confirmed by computed tomography. Echocardiographic features suggestive of inferior vena cava stenosis include detection of a focal narrowing and high turbulent flow, peak velocity > 1.5 m/s and S/D wave fusion on spectral Doppler.

Loading

Article metrics loading...

/content/journals/10.5339/gcsp.2015.50
2016-02-02
2024-03-28
Loading full text...

Full text loading...

/deliver/fulltext/gcsp/2015/5/gcsp.2015.50.html?itemId=/content/journals/10.5339/gcsp.2015.50&mimeType=html&fmt=ahah

References

  1. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991; 352::337339.
    [Google Scholar]
  2. Devereux RB, de Simone G, Arnett DK, Best LG, Boerwinkle E, Howard BV, Kitzman D, Lee ET, Mosley TH Jr, Weder A, Roman MJ. Normal limits in relation to age, body size and gender of two-dimensional echocardiographic aortic root dimensions in persons ≥ 15 years of age. Am J Cardiol. 2012; 110::11891194.
    [Google Scholar]
  3. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47::476485.
    [Google Scholar]
  4. Evcimik MF, Ozkurt FE, Karavus A, Sapci T. The morphological findings of malleus and incus in a case of Marfan's syndrome. Laryngoscope. 2012; 122:2:389392.
    [Google Scholar]
  5. Nistri S, Porciani MC, Attanasio M, Abbate R, Gensini GF, Pepe G. Association of Marfan syndrome and bicuspid aortic valve: Frequency and outcome. Int J cardiol. 2012; 155:2:324325.
    [Google Scholar]
  6. Minniti S, Visentini S, Procacci C. Congenital anomalies of the venae cavae: Embryological origin, imaging features and report of three new variants. Eur Radiol. 2002; 12:8:20402055.
    [Google Scholar]
  7. Koc Z, Oguzkurt L. Interruption or congenital stenosis of the inferior vena cava: Prevalence, imaging, and clinical findings. Eur J Radiol. 2007; 62::257266.
    [Google Scholar]
  8. Bass JE, Redwine KLA, Huynh PT, Harris JH Jr. Spectrum of congenital anomalies of the inferior vena cava: Cross-sectional imaging findings. Radiographics. 2000; 20:3:639652.
    [Google Scholar]
  9. Minagoe S, Yoshikawa J, Yoshida K, Akasaka T, Shakudo M, Maeda K, Tei C. Obstruction of inferior vena caval orifice by giant left atrium in patients with mitral stenosis. A Doppler echocardiographic study from the right parasternal approach. Circulation. 1992; 86:1:214225.
    [Google Scholar]
  10. Corte Della CA, Bancone C, Quarto C, Dialetto G, Covino FE, Scardone M, Caianiello G, Cotrufo M. Predictors of ascending aortic dilatation with bicuspid aortic valve: A wide spectrum of disease expression. Eur J Cardiothorac Surg. 2007; 31:3:397405.
    [Google Scholar]
http://instance.metastore.ingenta.com/content/journals/10.5339/gcsp.2015.50
Loading
/content/journals/10.5339/gcsp.2015.50
Loading

Data & Media loading...

  • Article Type: Research Article
Keyword(s): echocardiographyectopia lentisIVCMarfan and sensorineural
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error