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Marfan's syndrome with aortic valve endocarditis

S Jaiswal1, B-S Magar, M Poudel

  • 1Department of Medicine, Kathmandu Medical College, Sinamangal, Kathmandu, Nepal. sjkalu@yahoo.com

Kathmandu University Medical Journal (KUMJ)
|January 10, 2006
PubMed

Insights

Marfan syndrome is a genetic connective tissue disorder affecting multiple body systems. This case highlights severe aortic regurgitation and infective endocarditis in a patient with Marfan syndrome.

Area of Science:

  • Genetics
  • Cardiology
  • Rheumatology

Background:

  • Marfan syndrome is an autosomal dominant connective tissue disorder affecting the musculoskeletal, cardiovascular, and ocular systems.
  • It has a prevalence of 1 in 100,000 and can arise from new mutations in the fibrillin gene.
  • Cardiovascular complications are prevalent, with up to 90% of patients developing cardiac issues, and 1 in 3000-5000 may experience infective endocarditis.

Observation:

  • The patient presented with characteristic musculoskeletal features of Marfan syndrome, including tall stature, reduced upper-lower segment ratio, and an arm-span to height ratio greater than 1.05.
  • Significant cardiovascular abnormalities were noted, specifically severe aortic regurgitation.
  • The aortic regurgitation was further complicated by infective endocarditis.

Findings:

  • The case illustrates the significant cardiovascular impact of Marfan syndrome.
  • Severe aortic regurgitation is a critical manifestation requiring close monitoring and management.
  • The complication of infective endocarditis underscores the vulnerability of patients with valvular abnormalities.

Implications:

  • Early recognition and management of cardiovascular complications are crucial for Marfan syndrome patients.
  • This case emphasizes the importance of a multidisciplinary approach involving cardiology and genetics.
  • Improved understanding of Marfan syndrome pathophysiology may lead to novel therapeutic strategies.

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