Table 1.
Genes | |||||
---|---|---|---|---|---|
Chr | Gene name | Effect | Inheritance | Reference | |
11p15.5 | KCNQ1/KvLQT1 | Increases IKs, Expected to shorten APD | AD | 10,14 | |
21q22.1 | KCNE2/MiRP1 | Increases IKs | AD | 11 | |
17q23.1-24.2 | KCNJ2 | Increases IK1; Expected to shorten APD | AD | 12 | |
12p13 | KCNA5 | Loss of IKur; prolongs APD | AD | 13 | |
3p21 | SCN5A | Hyperpolarizing shift of resting membrane potential; Expected to prolong APD | AD | 15-17 | |
1p36-p35 | NPPA | Results in mutant atrial natriuretic peptide; associated with shortened APD | AD | 26 |
Genetic Loci | Chr | Gene | Comments | Inheritance | Reference |
---|---|---|---|---|---|
5p13 | Unknown | Associated with sudden death | AR | 24 | |
6q14-q16 | Unknown | Overlaps with locus for DCM | AD | 23 | |
10q22-q24 | Unknown | Overlaps with locus for DCM | AD | 22 | |
10p11-q21 | Unknown | AD | 25 |
Abbreviations: Chr, Chromosome; AD, autosomal dominant; AR, autosomal recessive; DCM, dilated cardiomyopathy.