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Marfan syndrome

Elizabeth A Gonzales1

  • 1Methodist Sugar Land Hospital, Sugar Land, Texas, USA. bettygonzales@yahoo.com

Journal of the American Academy of Nurse Practitioners
|December 5, 2009
PubMed
Abstract

Insights

Marfan syndrome (MFS) is a genetic connective tissue disorder. Early diagnosis and treatment are crucial for managing its effects on the eyes, skeleton, and heart, ensuring a normal lifespan.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular Medicine
  • Ophthalmology
  • Rheumatology

Background:

  • Marfan syndrome (MFS) is a heritable connective tissue disorder.
  • It is characterized by a distinct set of physical features.
  • Genetic mutations are increasingly understood as the underlying cause.

Observation:

  • MFS affects multiple organ systems, including the cardiovascular, skeletal, and optical systems.
  • The syndrome can lead to significant morbidity and mortality if not managed.
  • Genetic advancements have identified specific gene mutations linked to MFS.

Findings:

  • Early detection and intervention are critical for managing MFS.
  • Close monitoring and timely treatment can prevent severe complications.
  • Genetic counseling is essential for affected individuals and their families.

Implications:

  • Advanced practice nurses (APNs) must recognize MFS complications.
  • Attentive surveillance by APNs can reduce MFS-related mortality and morbidity.
  • A multidisciplinary approach involving APNs ensures comprehensive patient care.

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