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The Marfan syndrome - features, natural history and treatment options - our experiences

J Kwiatkowska1, J Wierzba, R Pawlaczyk

  • 1Gdansk Medical University, Department of Pediatric Cardiology and Congenital Heart Defect, Poland.

Georgian Medical News
|May 28, 2011
PubMed

Insights

Marfan syndrome (MFS), a genetic connective tissue disorder, frequently impacts the heart. Early diagnosis and multidisciplinary care, including beta-blockers and advanced cardiosurgery, improve outcomes for MFS patients.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Marfan syndrome (MFS) is a common heritable connective tissue disorder, often caused by FBN1 gene mutations.
  • MFS is frequently underdiagnosed, particularly in pediatric populations.
  • Cardiovascular complications are a primary concern in Marfan syndrome.

Purpose of the Study:

  • To analyze cardiovascular manifestations in clinically diagnosed pediatric Marfan syndrome patients.
  • To evaluate the effectiveness of current management strategies, including prophylactic treatment and cardiosurgery.
  • To highlight the need for comprehensive, multidisciplinary care for Marfan syndrome.

Main Methods:

  • Prospective data collection from 66 clinically diagnosed MFS patients over a 10-year period (2000-2010).
  • Clinical assessment of cardiovascular abnormalities, including mitral valve regurgitation and aortic dilatation.
  • Review of treatment interventions, such as beta-blocker therapy and cardiosurgical procedures.

Main Results:

  • 44% of patients presented with mitral valve regurgitation, 29% with aortic dilatation, and 20% with both.
  • Mitral valve prolapse preceded aortic root dilatation in 11% of cases.
  • 17% of patients required cardiosurgery for progressive cardiovascular issues; 59% received prophylactic beta-blocker treatment.

Conclusions:

  • Marfan syndrome necessitates a multidisciplinary approach, integrating specialized cardiac care and psychological support.
  • Advances in cardiosurgery offer improved therapeutic options for severe cardiovascular complications in MFS.
  • Timely intervention and ongoing monitoring are crucial for managing Marfan syndrome and preventing life-threatening events.

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