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Year : 1999  |  Volume : 1  |  Issue : 5  |  Page : 152-162

Recent advances in genetics of cardiac diseases

Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria

Correspondence Address:
Yukihiro Kaneko
c/o Dr. Werner Mohl, Department of Cardiothoracic Surgery, University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna
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Source of Support: None, Conflict of Interest: None

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Recent progress in molecular genetics has contributed to the understanding of cardiac diseases. Genetic studies revealed that genetic mutation in a single locus results in various different congenital heart diseases, and apparently the same phenotype is caused by several different genetic mutations. Despite increasing knowledge of causative genes, genetic mechanisms of congenital heart diseases have not been elucidated. Marfan syndrome, supravalvular aortic stenosis, and Ehlers-Danlos syndrome type IV result from mutations of genes encoding fibrillin-1, elastin, and type III collagen, respectively. Long QT syndrome is caused by five or more genetic mutations of cardiac ion channels, with each locus representing one variant of the disease. Gene-specific therapy according to the genetic defects of long QT syndrome may be feasible in the near future. Coronary artery disease is a heterogeneous phenotype resulting from interactions of numerous genetic and environmental factors. Elucidation of the complex genetic factors of coronary artery disease is expected to lead to development of genetic-based diagnostic, preventive, and therapeutic tools. Although sex-linked inherited dilated cardiomyopathy results from deficient dystrophin gene, the genetic cause of most cases of dilated cardiomyopathy is uncertain. Familial hypertrophic cardiomyopathy is caused by mutations of genes encoding cardiac sarcomeric proteins. Mutant mitochondrial and/or nuclear DNA causes genetic mitochondrial dysfunction, which may lead to atrioventricular block, cardiomyopathy, and acceleration of coronary artery disease. The application of gene therapy in clinical cardiology is modest at present. The major obstacles are deficient availability of suitable vectors and limited technical sensitivity in detecting the pathogenesis of polygenic cardiac diseases. The current impact of genetics on diagnosis and treatment of cardiac disease is limited. However, in the not-too-distant future, fast paced advances in genetics will enable novel diagnostic and therapeutic approaches that will revolutionize an understanding of the pathophysiology and treatment of cardiac diseases.

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