Zeitschrift für Kardiologie
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Venous Thromboembolism develops as the result of multiple interactions between non-genetic and genetic risk factors. The most important non-genetic risk factors are age, tissue damage, oral contraception, pregnancy, obesity and lack of physical activity. Inborn factors predisposing to thrombosis are present in the majority of patients. ⋯ The results of these studies indicate that many symptomatic individuals are endowed with more than one (genetic and/or environmental) risk factor. Thrombophilia thus represents an oligogenetic rather than monogenetic clinical phenotype, the expression of which is amplified by circumstantial risk factors. As a consequence of the "multiple hit" concept, the laboratory screening of thrombosis patients needs to include all of the known genetic risk factors even if the "clinical" situation seemingly provides sufficient "explanation" for a thrombotic event.
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Cardiomyopathies comprise a heterogeneous group of primary heart muscle disorders with a strong genetic component. Nearly all cases of hypertrophic cardiomyopathy and at least 20-30% of cases with dilated cardiomyopathy are due to autosomal dominant mutations. ⋯ Although the ability to diagnose cardiomyopathies at the molecular level has advanced, our understanding of disease pathways and the knowledge of individual diseases causing mutations has had little impact on the clinical management of patients. Once current technical limitations for large-scale mutation analysis are overcome, broad genotype/phenotype correlation studies may answer important clinical issues such as the precise relation between distinct mutations and the risk of sudden death, course of the disease and treatment of patients.