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.
References
- John C S Dean. Marfan syndrome: clinical diagnosis and management. Eur J Med Genet. 2007 May; 15:724–733
- Lacro RV, Dietz HC, Wruck LM, Bradley TJ, et al. Rationale and Design of a Randomized Clinical Trial of Beta Blocker Therapy (Atenolol) vs. Angiotensin II Receptor Blocker Therapy (Losartan) in Individuals with Marfan Syndrome. Am Heart J. 2007 October; 154(4):624–631.
- Dean JC. Management of Marfan syndrome. Heart 2002; 88(1):97–103
- Wood JR Bellamy D, Child AH. Cilm KM. Wilmonary disease in patients with Martini's Syndrome. 'Iliorax 19X4: 39:7X0-4
- E. FOSTER D. R. FOSTER. Bronchiectasis and Marfan's syndrome- case report. Postgraduate Medical Journal (October 1980) 56, 718-719
- KATZ, H.L. (1952) Thoracic manifestation in Marfan's syndrome (arachnodactyly). Quarterly Bulletin of Sea View Hospital, 13, 95.