[Molecular tests for (early) recognition of heart disease - genetic studies in lethal inherited cardiac arrhythmias].
Inherited arrhythmic syndromes can manifest as sudden cardiac death as first, but fatal manifestation. Congenital Long QT Syndrome and Brugada Syndrome affect cardiac repolarisation and are characterised by specific phenotypes on the 12-lead surface ECG. In both syndromes numerous mutations have been identified in the genes encoding the responsible ion channels or other components of the membrane. Two case studies will illustrate aspects of clinical diagnosis including genetic testing and in vitro studies exploring pathophysiology.
Keller
Dagmar I
DI
Klinik und Poliklinik für Innere Medizin, UniversitätsSpital Zürich. dagmar.keller@usz.ch
D053840:Brugada Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality; D015336:Molecular Probe Techniques; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D005819:Genetic Markers; D007473:Ion Channels