Marfan Syndrome is a genetic, cardiovascular disease caused by a defect in the fibrillin 1 gene on chromosome 15. This defect causes abnormal deposition of elastin throughout the body. Elastin is found in many organs including the aorta. Marfan Syndrome is diagnosed by the Ghent criteria. The mean age at death is 44 years for men and 47 years for women, and about 70% die from acute cardiovascular complications, mainly aortic dissection. The assessment and treatment of the aortic complications of Marfan Syndrome has not changed for many years. Serial echocardiography is performed to measure the aortic root diameter. If thought to be increasing in size, beta blockers are prescribed to delay aortic dilatation and surgery, and to prevent aortic dissection or rupture despite the paucity of good research data. I have investigated three novel diagnostic tools: Tissue Doppler Imaging, Applanation Tonometry and Wave Intensity Analysis which have potential advantages in the assessment of the left ventricle and aorta and their interaction in Marfan Syndrome. I also investigated three drugs a beta blocker, an angiotensin converting enzyme inhibitor and a calcium channel blocker to look at their impact on some of the parameters measured by these three novel tools in a double-blinded, randomised cross-over trial. I conclude that these three novel tools would be useful adjuncts in monitoring Marfan Syndrome and their response to treatment. I also found that beta blockers may still have a role to play in delaying and preventing aortic complications when given together with an angiotensin converting enzyme inhibitor, calcium channel blocker or angiotensin receptor blocker. There are, however, other issues that need addressing to improve the management of the cardiovascular complications of Marfan Syndrome. This includes a multi-team approach to this multi-system disease and improvements in the standard of research.
| Identifer | oai:union.ndltd.org:bl.uk/oai:ethos.bl.uk:567247 |
| Date | January 2011 |
| Creators | Williams, Andrew |
| Publisher | Cardiff University |
| Source Sets | Ethos UK |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Source | http://orca.cf.ac.uk/38024/ |
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