Summary
Calcium is an important mediator in cardiac excitation and disorders in cardiac Ca2+ homeostasis have great influence on the cardiac action potential. Therefore dysfunction in regulatory proteins that are involved in Ca2+ handling can lead to the occurrence of severe arrhythmia. Although mutations in Ca2+ regulating proteins are quite rare, they can offer general insights into arrhythmogenesis. Here, we briefly review some important aspects of arrhythmia-associated mutations in Ca2+ regulating proteins with special emphasis to its associated pathophysiology.
Zusammenfassung
Kalziumionen sind ein wichtiger Mediator der kardialen Rhythmogenese, und Störungen der Ca2+ Homöostase führen zu Veränderungen des kardialen Aktionspotentials. Mutationen in Genen, die Proteinen des intrazellulären Kalziumstoffwechsels kodieren, können zum Auftreten von schweren Herzrhythmusstörungen führen. Obwohl Mutationen solcher Proteine relativ selten sind, bieten sie allgemeine Einblicke in die kardiale Arrhythmogenese. Im Artikel werden daher einige der wichtigsten, mit Arrhythmien assoziierten Mutationen des Kalziumstoffwechsels unter besonderer Beachtung einiger pathophysiologischer Aspekte diskutiert.
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Kochhäuser, S., Schulze-Bahr, E. & Kirchhefer, U. Arrhythmia-associated cardiac Ca2+ cycling proteins and gene mutations. Wien Med Wochenschr 162, 292–296 (2012). https://doi.org/10.1007/s10354-012-0114-z
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DOI: https://doi.org/10.1007/s10354-012-0114-z