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1: Pacing Clin Electrophysiol. 2008 Feb;31 Suppl 1:S46-9.Click here to read Links

DNA analysis in inherited cardiomyopathies: current status and clinical relevance.

van Spaendonck-Zwarts KY, van den Berg MP, van Tintelen JP.

Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. k.y.spaendonck@medgen.umcg.nl

Most hypertrophic cardiomyopathies and a subset of dilated and arrhythmogenic right ventricular cardiomyopathies are familial diseases. They generally show an autosomal dominant pattern of inheritance and have underlying mutations in genes encoding sarcomeric, cytoskeletal, nuclear envelope, and desmosomal proteins. DNA analysis in cardiomyopathies can help diagnose borderline cases, and cascade screening of family members can identify individuals at risk. Genotype-phenotype relations are complex, but some associations, such as septal morphology, electrocardiogram parameters, and additional cardiac and other manifestations, point toward certain genes. Such features help target DNA testing and the results of DNA analysis can be used in making clinical decisions.

PMID: 18226036 [PubMed - indexed for MEDLINE]