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Clinical consult: Marfan syndrome
Sarah J Grimes1, Louise S Acheson, Anne L Matthews
1Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, LKS 1500, Cleveland, OH 44106, USA. sarah.grimes@uhhs.com
Primary Care
|August 28, 2004
Summary
Marfan syndrome is a heritable connective tissue disorder affecting 2-3 per 10,000 individuals. Early identification and management of Marfan syndrome are crucial for preventing life-threatening cardiovascular complications and improving patient lifespan.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Connective Tissue Diseases
Background:
- Marfan syndrome is a prevalent, autosomal dominant genetic disorder impacting connective tissue.
- Affecting approximately 2-3 per 10,000 individuals, it lacks specific demographic predilections.
- Unrecognized Marfan syndrome poses significant risks of life-threatening cardiovascular complications.
Purpose of the Study:
- To present a comprehensive case study of Marfan syndrome.
- To detail the disease characteristics, natural history, and genetic basis.
- To outline diagnostic criteria, differential diagnoses, and management strategies.
Main Methods:
- Review of clinical presentation and diagnostic workup for Marfan syndrome.
- Analysis of genetic inheritance patterns and molecular basis.
- Discussion of current therapeutic approaches and prognosis.
Main Results:
- The case study illustrates typical Marfan syndrome manifestations.
- Genetic analysis confirms the heritable nature of the disorder.
- Effective management strategies can significantly alter the disease trajectory.
Conclusions:
- Marfan syndrome requires vigilant diagnosis and proactive management.
- Timely intervention, particularly for cardiovascular aspects, is key to improving outcomes.
- Understanding the genetics and natural history is vital for patient care.