Related Experiment Videos
[Infectious endocarditis. A form of the presentation of Marfan's syndrome--a clinical case]
A Ferreira1, P M Fernando, F Macedo
1Serviço de Medicina III, Hospital de São João, Porto.
Abstract:
The Marfan syndrome is a heritable disease with an autosomal dominant inheritance. Its prevalence is four to six per 100,000 people. It appears to be caused by mutations in a single fibrillin gene on chromosome 15. In its classic form, the Marfan syndrome is associated with abnormalities of the eye, aorta, skeleton, lungs and central nervous system. We describe a case of Marfan syndrome, previously undiagnosed, admitted to the hospital because of persistent fever, caused by an infective endocarditis followed by an acute aortic regurgitation. The purpose of this paper is to increase the awareness of this disorder among clinicians in order to prevent the potentially lethal complications, mostly cardiovascular, that could be avoided by a correct management.
Insights
Marfan syndrome, a genetic disorder affecting connective tissue, can present with serious cardiovascular complications. Early diagnosis and management are crucial for preventing potentially lethal outcomes in affected individuals.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Rare Diseases
Background:
- Marfan syndrome is an autosomal dominant heritable disorder affecting connective tissue.
- It is caused by mutations in the fibrillin gene (FBN1) on chromosome 15.
- Prevalence ranges from 4 to 6 per 100,000 people.
Observation:
- A previously undiagnosed case of Marfan syndrome presented with persistent fever.
- The patient developed infective endocarditis and acute aortic regurgitation.
- This highlights a potentially overlooked presentation of the syndrome.
Findings:
- Marfan syndrome involves abnormalities in the eye, aorta, skeleton, lungs, and central nervous system.
- Cardiovascular complications, such as aortic regurgitation, are common and can be life-threatening.
- Infective endocarditis can be a presenting complication.
Implications:
- Increased clinical awareness of Marfan syndrome is essential for timely diagnosis.
- Prompt and correct management can prevent severe cardiovascular complications.
- Early detection and intervention improve patient outcomes and reduce mortality risk.