DISEASE SCANNER
Global Incurable Diseases Tracker
Marfan Syndrome
An autosomal dominant connective tissue disorder caused by FBN1 gene mutation affecting fibrillin-1 protein. Affects skeletal, ocular, and cardiovascular systems. Most serious complication is aortic root dilation/dissection. Equal prevalence across ethnicities.
60.0K
15
Symptoms
Treatment Options
Risk Factors
Diagnostic Methods
- 1Genetic testing
- 2Clinical evaluation
- 3Family history assessment
- 4Specialized laboratory tests
- 5Imaging studies
- 6Biopsy (if applicable)
Prognosis
Life expectancy near normal with modern care (70-80 years). Aortic dissection main risk, now rare with prophylactic surgery. Without treatment: median survival 32 years. Regular imaging essential.
Prevention
- Genetic counseling
- Carrier screening
- Prenatal diagnosis
- Preimplantation genetic diagnosis
- Family planning
Research Status
ARBs (losartan) and beta-blockers slow aortic growth. Aortic root replacement when diameter >5.0 cm (or lower with risk factors). Regular echocardiographic surveillance essential. Gene therapy research early stage.
Affected Countries
Sources
- https://www.ncbi.nlm.nih.gov/books/NBK1116
- https://medlineplus.gov/genetics
- https://rarediseases.org
Medical Disclaimer
This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.