DNA analysis in inherited cardiomyopathies: current status and clinical relevance.
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.
van Spaendonck-Zwarts
Karin Y
KY
Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. k.y.spaendonck@medgen.umcg.nl
van den Berg
Maarten P
MP
van Tintelen
J Peter
JP
D024741:Cardiomyopathy, Hypertrophic, Familial / Q000151:congenital* / Q000175:diagnosis*; D002986:Clinical Trials as Topic; D004252:DNA Mutational Analysis / Q000639:trends*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000639:trends*; D006801:Humans; D010818:Practice Patterns, Physicians' / Q000639:trends