Clinical and experimental examinations in inherited cardiac disorders
Informations
- Funding country
Hungary- Acronym
- -
- URL
- -
- Start date
- 2/1/2002
- End date
- 12/31/2005
- Budget
- 21,096 EUR
Fundings
| Name | Role | Start | End | Amount |
|---|---|---|---|---|
| Thematic Programme | Grant | 2/1/2002 | 12/31/2005 | 21,096 EUR |
Abstract
Genetic research in recent years has clarified the molecular genetic basis of a number of cardiac disorders, relevant to clinical practice. Disorders, showing a monogenic inheritance pattern include the hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and the long QT syndrome (LQTS). All of these disorders are associated with symptoms limiting the quality of life, the presence of frequent cardiac arrhythmias and an incresed risk of sudden cardiac death. The genetic research on cardiomyopathies is a rapidly growing field and resulted in revolutionary changes in our thinking on HCM. Although much has been clarified regarding the pathologic base of these diseases, many open questions remained. These include not only to find all the disease associated genetic loci and subsequently the involved genes, but to completely understand the molecular pathogenesis of the disease. However, our current knowledge on these disorders is enough for transferring the new genetic informations into the every-day clinical practice. The most important question is to clarify the genotype-phenotype associations, and to establish whether it is possible to determine the clinical course of a given genotype. To establish such an association would represent invaluable tool in risk stratification, which is incomplete at the moment. Any new information would be valuable for the scientific community in general.