The following are true regarding Marfan's syndrome (MS):
1. It is autosomal dominant
2. The most common cause of death is secondary to cardiovascular complications
3. Pectus excavatum is commonly seen in Marfan's syndrome
4. Dural ectasia can be seen on the plain radiographs as widening of the interpedicular distance
5. Spontaneous pneumothorax is usually secondary to bullae
Answers: T, T, T, T, T
Notes:
MS is autosomal dominat disease with the gene located on chromosome 15. Aortic dissection, heart failure and vavular disease are the most common causes of death in more than 90%. The cardiovascular manifestations include annuloaortic ectasia, aortic aneurysm, aortic dissection, pulmonary arterial dilatation. Musculoskeletal menifestations include scoliosis, pectus excavatum, pectus carinatum, arachnodactyly, protrusio acetabuli. Dural ectasia may be seen as widened interpedicular distance. Pulmonary manifestations include interstitial lung disease, bullous emphysema, bronchial anomalies, bronchiectasis, spontaneous pneumothorax.
Reference:
Ha H I et al. Imaging of Marfan Syndrome: Multisystemic Manifestations. RadioGraphics 2007;27:989-1004
