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The Marfan syndrome. An underdiagnosed killer
1Department of Family Practice, Uniformed Services University of the Health Sciences, Bethesda, Md.
Archives of Family Medicine
|September 1, 1994
Summary
Marfan syndrome is an inherited connective tissue disorder that can cause premature death, often from cardiac issues. Early diagnosis and management by family physicians, with cardiac surgeon input, can prevent fatal outcomes.
Area of Science:
- Genetics
- Cardiology
- Medical Diagnosis
Background:
- Marfan syndrome is a genetic disorder affecting connective tissues.
- It leads to serious cardiac complications and premature death.
- Current genetic research has identified the responsible gene.
Observation:
- Despite genetic discoveries, Marfan syndrome diagnosis remains primarily clinical.
- Cardiac complications are the most frequent cause of mortality.
- Early detection and proactive management are crucial for survival.
Findings:
- The diagnosis of Marfan syndrome is clinical.
- Cardiac complications are the most common cause of premature death.
- Early diagnosis and aggressive management can prevent mortality.
Implications:
- Family physicians can lead Marfan syndrome diagnosis and management.
- Collaboration with cardiac surgeons is vital for patient care.
- Timely intervention significantly improves patient prognosis and survival rates.