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Marfan syndrome diagnosed in patients 32 years of age or older
Abstract:
The Marfan syndrome, a generalized inherited disorder, is usually diagnosed in young patients and is associated with a poor prognosis. With use of our diagnostic-retrieval system, we identified 28 patients with the Marfan syndrome who were 32 years of age or older at the time of diagnosis. These patients had at least two of four major diagnostic criteria for the Marfan syndrome--a confirmed family history, a long-limbed habitus, dislocated lenses, and disease of the aortic root. In these relatively older patients, some clinical findings (the ocular disorder and the family history) corresponded to the expected findings in younger patients with the Marfan syndrome; however, the proportion of those with cardiovascular disease was greater. Echocardiography has improved the potential for detection of the cardiac lesions, the most frequent cause of death in these patients. Early diagnosis of the Marfan syndrome is important so that complications of the cardiac lesions can be prevented or delayed and so that genetic counseling can be done at an appropriate time.
Insights
Marfan syndrome, a genetic disorder, is often diagnosed late. Older patients identified had more cardiovascular disease, highlighting the need for early Marfan syndrome diagnosis and genetic counseling.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Ophthalmology
Background:
- Marfan syndrome is a generalized inherited disorder typically diagnosed in young patients.
- Late diagnosis of Marfan syndrome is associated with a poor prognosis.
- Cardiovascular complications, particularly aortic root disease, are a major cause of mortality.
Purpose of the Study:
- To identify and characterize adult patients diagnosed with Marfan syndrome.
- To investigate clinical findings in older Marfan syndrome patients.
- To emphasize the importance of early diagnosis for managing Marfan syndrome complications.
Main Methods:
- Utilized a diagnostic-retrieval system to identify patients.
- Included patients diagnosed at 32 years or older.
- Applied major diagnostic criteria: family history, habitus, dislocated lenses, aortic root disease.
Main Results:
- Identified 28 adult patients (≥32 years) with Marfan syndrome.
- Older patients showed expected ocular and family history findings.
- A higher proportion of older patients presented with cardiovascular disease, including aortic root disease.
Conclusions:
- Late diagnosis of Marfan syndrome in adults is feasible.
- Cardiovascular disease is more prevalent in older Marfan syndrome patients.
- Early Marfan syndrome diagnosis is crucial for preventing or delaying cardiac complications and enabling timely genetic counseling.