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.
MeSH terms
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Arrhythmias, Cardiac / genetics*
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Arrhythmias, Cardiac / physiopathology*
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Autistic Disorder
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Brugada Syndrome / genetics
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Brugada Syndrome / physiopathology
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Calcium / metabolism*
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Calcium Channels, L-Type / genetics
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Calcium Channels, L-Type / physiology
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Calcium-Binding Proteins / genetics*
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Calcium-Binding Proteins / physiology*
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Calsequestrin / genetics
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Calsequestrin / physiology
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Cytosol / physiology
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Diastole / physiology
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Electrocardiography
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Female
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Homeostasis / genetics
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Homeostasis / physiology
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Humans
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Long QT Syndrome / genetics
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Long QT Syndrome / physiopathology
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Male
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Mutation*
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Myofibrils / physiology
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Ryanodine Receptor Calcium Release Channel / genetics
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Ryanodine Receptor Calcium Release Channel / physiology
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Sarcoplasmic Reticulum / physiology
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Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics
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Sarcoplasmic Reticulum Calcium-Transporting ATPases / physiology
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Sodium-Calcium Exchanger / genetics
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Sodium-Calcium Exchanger / physiology
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Syndactyly / genetics
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Syndactyly / physiopathology
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Tachycardia, Ventricular / genetics
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Tachycardia, Ventricular / physiopathology
Substances
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CASQ2 protein, human
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Calcium Channels, L-Type
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Calcium-Binding Proteins
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Calsequestrin
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Ryanodine Receptor Calcium Release Channel
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Sodium-Calcium Exchanger
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Sarcoplasmic Reticulum Calcium-Transporting ATPases
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Calcium
Supplementary concepts
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Polymorphic catecholergic ventricular tachycardia
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Timothy syndrome