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Gendiagnostik bei kardiovaskulären Erkrankungen: Positionspapier der Deutschen Gesellschaft für Kardiologie (DGK) und der Deutschen Gesellschaft für Pädiatrische Kardiologie (DGPK) [Molecular diagnostics of cardiovascular diseases: Expert consensus st

Authors

  • E. Schulze-Bahr
  • S. Klaassen
  • H. Abdul-Khaliq
  • H. Schunkert

Journal

  • Kardiologe

Citation

  • Kardiologe 9 (3): 213-243

Abstract

  • Many cardiovascular disorders have a genetic background and occur in a familial setting. The majority belong to the group of rare diseases as their prevalence is low (< 1:2000); only hypertrophic cardiomyopathy and familial hypercholesterolemia are more frequent. There is often a widespread genetic heterogeneity and complexity (5-15 specific genes causing the disease) and a private (family-specific) mutation associated with a variable phenotypic manifestation. Molecular diagnostics and genetic testing are helpful in cardiovascular diseases and may be useful for therapeutic and preventive decisions in addition to the diagnostic value. In particular, they allow early detection of disease development and better family counselling. This expert consensus statement provides useful information and recommendations on the importance of genetic testing in cardiac arrhythmia, cardiomyopathy, congenital heart and vessel diseases, rare cardiac syndromes as well as in familial hypercholesterolemia and for molecular autopsies, e.g. for sudden infant death syndrome (SIDS) and sudden unexpected death syndrome (SUDS).


DOI

doi:10.1007/s12181-014-0636-2