Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome
Table 4
Genes linked to catecholaminergic polymorphic ventricular tachycardia.
Type
OMIM
Gene
Protein
Functional role in cardiomyocytes
Effect of mutation
Autosomal dominant inheritance
CPVT1
#604772
RYR2
RyR2
Ryanodine receptor in SR membrane
Calcium leak from SR
Autosomal recessive inheritance
CPVT2
#611938
CASQ2
Calsequestrin-2
Calcium buffering in SR
Disrupted SR calcium buffering capacity
NC
—
TRDN
Triadin
Links calsequestrin-2 and RyR2
Impaired SR calcium release
OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; CPVT1 and CPVT2: catecholaminergic polymorphic ventricular tachycardia types 1 and 2; NC: no consensus; SR: sarcoplasmic reticulum.