Marfan Syndrome Research - Genetics, Causes, Symptoms, Treatment

Marfan Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Marfan Syndrome, including details on genetics, causes, symptoms, treatment.


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Marfan syndrome with antineutrophil cytoplasmic antibody-associated systemic vasculitis presenting as severe anaemia and haematuria after the Bentall procedure.

Sijia L, Shuangxin L, Wei S, Yanhai C

Department of Nephrology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.

Published 12 July 2013 in Eur J Cardiothorac Surg, 44(2): 379-381.
Full-text of this article is available online (may require subscription).


Articles on Marfan Syndrome published 12 July 2013:

Should aortic arch replacement be performed during initial surgery for aortic root aneurysm in patients with Marfan syndrome?   Eur J Cardiothorac Surg, 44(2): 346-351.

[Abstract] [Full-text]


Articles on Marfan Syndrome published 11 July 2013:

Aortic Dissection During Pregnancy: A Difficult Clinical Scenario.   Clin Cardiol.

[Abstract] [Full-text]


Articles on Marfan Syndrome published 10 July 2013:

Results of Modern Mitral Valve Repair in Patients with Marfan Syndrome.   Thorac Cardiovasc Surg.

[Abstract] [Full-text]


Articles on Marfan Syndrome published 8 July 2013:

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans.   Am J Hum Genet.

[Abstract] [Full-text]


Articles on Marfan Syndrome published 4 July 2013:

Modifications of Chromatin Dynamics Control the Smad2 Pathway Activation in Aneurysmal Smooth Muscle Cells.   Circ Res.

[Abstract] [Full-text]

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys-dietz syndrome.   Am J Med Genet A.

[Abstract] [Full-text]

A clinical appraisal of different Z-score equations for aortic root assessment in the diagnostic evaluation of Marfan syndrome.   Genet Med, 15(7): 528-32.

Purpose:Aortic sinus diameter dilatation expressed as a Z-score >2.0 is diagnostic in Marfan syndrome. In addition to the classic equation (Z1) for calculating Z-scores, two new equations were recently introduced (Z2 and Z3).Methods:We studied the effects of obesity, age, and the absolute cut point of 40 mm on these three equations in 2,674 echocardiographic measurements of 260 patients with Marfan syndrome.Results:Diameters ≥40 mm were associated with Z1 scores <2.0 in 109 ... [Abstract] [Full-text]


Articles on Marfan Syndrome published 2 July 2013:

Emergent cardiopulmonary bypass during pectus excavatum repair.   Ann Card Anaesth, 16(3): 205-8.

Pectus excavatum is a chest wall deformity that produces significant cardiopulmonary disability and is typically seen in younger patients. Minimally invasive repair of pectus excavatum or Nuss procedure has become a widely accepted technique for adult and pediatric patients. Although it is carried out through a thoracoscopic approach, the procedure is associated with a number of potential intraoperative and post-operative complications. We present a case of cardiac perforation requiring ... [Abstract] [Full-text]


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Marfan Syndrome Research Today Archive:

Volume 1 (2005)
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