Title: An Unusual Presentation of Marfan’s Syndrome
Authors: Abhishek Kumar Verma, Raveesha A., Prabhakar K.
DOI: https://dx.doi.org/10.18535/jmscr/v5i11.155
Abstract
Introduction
Marfan's syndrome is a variable autosomal dominant hereditary connective tissue disorder caused by the mutation of the gene encoding the extracellular matrix protein fibrillin-1 (FBN 1) occasionally a mutation in TGFBR1 or 2.1 The prevalence of Marfan syndrome is approximately 1 per 5000 2 population and 26% of the cases have no family history.2 Its Characteristic clinical features include anterior chest deformities, long fingers, aortic root dilatation and dissection, lens dislocation and myopia.3 It is characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary involvement is uncommon and occur in approximately 10%. The commonest pulmonary complication being spontaneous pneumothorax and emphysema. Marfan’s syndrome associated with bronchiectasis is a rare presentation only few cases have been encountered so far.
