Ashok Kumar. Emphysema, dilatation of ascending aorta and mitral valve prolapse in Marfan syndrome - A case report
Journal Title: International Archives of Integrated Medicine - Year 2016, Vol 3, Issue 9
Abstract
Marfan syndrome is an autosomal dominant, multisystem connective tissue disorder. Mutations are present in the FBN1 gene on chromosome 15, which encodes for the connective tissue protein fibrillin, occasionally a mutation in TGFBR1 or 2. This disorder is characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients, the commonest being spontaneous pneumothorax and emphysema. Cardiovascular abnormalities being Mitral valve prolapse (MVP), is a relatively frequent abnormality and Aortic dilatation. Aortic root dilatation is one of the cardinal features of Marfan syndrome. But aorta may be dilated anywhere in its course, most common being ascending aorta. In this case report, a 17 years old boy with Marfan syndrome presented with combination of emphysema, dilatation of ascending aorta, mitral valve prolapse, which is rare.
Authors and Affiliations
Thajuddin MD, E. A. Ashok Kumar
Keywords
Related Articles
- EP ID EP495488
- DOI -
- Views 121
- Downloads 0
A comparative study of oral manifestations of HIV among pediatric patients
Introduction: The HIV pandemic has become a human, social as well as economic disaster, with far reaching inferences for individuals, communities and countries. The distribution of some of the specific oral manifestation...
Computerized tomography guided percutaneous transthoracic fine needle aspiration of lung lesions
Introduction: Computed tomogram guided fine needle aspiration cytology (FNAC) is an important and useful investigation to differentiate between benign and malignant lesions of lungs. With computed tomography (CT) it is...
An expression of p53 marker in colorectal cancer with histopathological correlation
Introduction: Colorectal cancer is the major cause of mortality and morbidity worldwide. Colorectal cancer is the malignant epithelial tumor of the colon and rectum. Incidence in India are quite low about 2 to 8 per 1,00...
Multiple myeloma in 33 years old male patient - A case report
Multiple myeloma is a condition of malignant plasma cell proliferation derived from a single B-cell lineage. These cells produce monoclonal immunoglobulins, most commonly either immunoglobulin G (IgG) or immunoglobulin A...
A 2 year study of meningiomas in correlation with squash cytology and histopathological examination
Background: Meningiomas are common CNS tumors arising from the meningothelial cells and usual sites are intracranial, followed by intra spinal. WHO 2007 has categorised meningiomas into 3 grades. This grading helps in pr...