Arrhythmia-associated cardiac Ca²(+) cycling proteins and gene mutations

Wien Med Wochenschr. 2012 Jul;162(13-14):292-6. doi: 10.1007/s10354-012-0114-z. Epub 2012 Jun 25.

Abstract

Calcium is an important mediator in cardiac excitation and disorders in cardiac Ca(2+) homeostasis have great influence on the cardiac action potential. Therefore dysfunction in regulatory proteins that are involved in Ca(2+) handling can lead to the occurrence of severe arrhythmia. Although mutations in Ca(2+) regulating proteins are quite rare, they can offer general insights into arrhythmogenesis. Here, we briefly review some important aspects of arrhythmia-associated mutations in Ca(2+) regulating proteins with special emphasis to its associated pathophysiology.

Publication types

  • Review

MeSH terms

  • Arrhythmias, Cardiac / genetics*
  • Arrhythmias, Cardiac / physiopathology*
  • Autistic Disorder
  • Brugada Syndrome / genetics
  • Brugada Syndrome / physiopathology
  • Calcium / metabolism*
  • Calcium Channels, L-Type / genetics
  • Calcium Channels, L-Type / physiology
  • Calcium-Binding Proteins / genetics*
  • Calcium-Binding Proteins / physiology*
  • Calsequestrin / genetics
  • Calsequestrin / physiology
  • Cytosol / physiology
  • Diastole / physiology
  • Electrocardiography
  • Female
  • Homeostasis / genetics
  • Homeostasis / physiology
  • Humans
  • Long QT Syndrome / genetics
  • Long QT Syndrome / physiopathology
  • Male
  • Mutation*
  • Myofibrils / physiology
  • Ryanodine Receptor Calcium Release Channel / genetics
  • Ryanodine Receptor Calcium Release Channel / physiology
  • Sarcoplasmic Reticulum / physiology
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / physiology
  • Sodium-Calcium Exchanger / genetics
  • Sodium-Calcium Exchanger / physiology
  • Syndactyly / genetics
  • Syndactyly / physiopathology
  • Tachycardia, Ventricular / genetics
  • Tachycardia, Ventricular / physiopathology

Substances

  • CASQ2 protein, human
  • Calcium Channels, L-Type
  • Calcium-Binding Proteins
  • Calsequestrin
  • Ryanodine Receptor Calcium Release Channel
  • Sodium-Calcium Exchanger
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • Calcium

Supplementary concepts

  • Polymorphic catecholergic ventricular tachycardia
  • Timothy syndrome