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Questions and Answers
What is the primary purpose of FBN1 gene sequencing in the diagnosis of Marfan syndrome?
What is the focus of treatment for Marfan syndrome?
What is the role of β-adrenergic blockers in medical therapy for Marfan syndrome?
What is the significance of aortic root dilation in the diagnostic criteria for Marfan syndrome?
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What is the purpose of physical therapy or orthotics in the management of Marfan syndrome?
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Why is ophthalmological management important in Marfan syndrome?
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What is the typical arm span to height ratio in individuals with Marfan syndrome?
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Which of the following is NOT a characteristic of skeletal abnormalities in Marfan syndrome?
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What is the typical age of onset for cardiovascular complications in Marfan syndrome?
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What is the main cause of premature death in patients with Marfan syndrome?
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Which of the following is NOT a characteristic of ocular abnormalities in Marfan syndrome?
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What is the diagnosis of Marfan syndrome based on?
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What is the trend in survival rate in patients with Marfan syndrome?
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What is the typical manifestation of pulmonary abnormalities in Marfan syndrome?
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Study Notes
Marfan Syndrome Characteristics
- Marfan syndrome is a multisystem disorder affecting skeletal, ocular, cardiovascular, pulmonary, skin, and dural systems.
- Skeletal abnormalities include:
- Disproportionate tall stature (arm span–height ratio > 1.05)
- Arachnodactyly
- Pectus deformities
- Scoliosis
- Joint laxity
- Narrow palate
- Ocular abnormalities include:
- Ectopia lentis (Fig.C-30)
- Flat corneas
- Increased globe length causing axial myopia
- Cardiovascular abnormalities include:
- Mitral valve prolapse
- Aortic regurgitation
- Dilatation and dissection of the ascending aorta
Natural History and Progression
- Many features of Marfan syndrome develop with age.
- Skeletal anomalies such as anterior chest deformity and scoliosis worsen with bone growth.
- Subluxation of the lens is often present in early childhood but can progress through adolescence.
- Retinal detachment, glaucoma, and cataracts show increased frequency in Marfan syndrome.
- Cardiovascular complications manifest at any age and progress throughout life.
Management and Diagnosis
- Marfan syndrome is a clinical diagnosis based on recognition of characteristic features in the ocular, skeletal, and cardiovascular systems and the integument.
- Aortic root dilatation and ectopia lentis carry disproportionate weight in the diagnostic criteria.
- Molecular confirmation of an FBN1 mutation is not a requirement for diagnosis but can play a pivotal role in certain cases.
- FBN1 gene sequencing lacks full specificity or sensitivity for Marfan syndrome and cannot substitute for a comprehensive clinical evaluation.
- Treatment focuses on prevention and symptomatic management, including ophthalmological, orthopedic, and cardiovascular management.
Prognosis and Mortality
- Major causes of premature death in patients with Marfan syndrome are heart failure from valve regurgitation and aortic dissection and rupture.
- Survival has improved with surgical and medical management of the aortic dilatation.
- Median age of mortality in Marfan patients rose from 49 to 74 years for women and from 41 to 70 years for men between 1972 and 1993.
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Description
This quiz covers the characteristics of Marfan syndrome, a multisystem disorder affecting various body systems. Learn about the skeletal, ocular, and other abnormalities associated with this condition.
