DiseaseDisease subtype/classificationGeneProteinIon channel typeMolecular defectReference
IKs diseaseLQT1KCNQ1KvLQT1IKs channel (α-subunit)loss of function[4]
LQT5KCNE1MinKIKs channel (β-subunit)loss of function[5]
FAFKCNQ1KvLQT1IKs channel (α-subunit)gain of function[6–8]
SQT2KCNQ1KvLQT1IKs channel (α-subunit)gain of function[9]
IKr diseaseLQT2KCNH2HERGIKr channel (α-subunit)loss of function[10]
LQT6KCNE2MiRP1IKr channel (β-subunit)loss of function[11]
SQT1KCNH2HERGIKr channel (α-subunit)gain of function[12]
INa diseaseLQT3SCN5ANav1.5INa channelgain of function[13]
Brugada syndromeSCN5ANav1.5INa channelloss of function[14,15]
FCDSCN5AINa channelloss of function[16]
IK1 diseaseAndersen syndromeKCNJ2Kir2.1IK1 channel[17]
SQT3KCNJ2Kir2.1IK1 channelgain of function[18]
Ankyrin diseaseLQT4ANK2Ankyrin BAnkyrin[19]
DiseaseDisease subtype/classificationGeneProteinIon channel typeMolecular defectReference
IKs diseaseLQT1KCNQ1KvLQT1IKs channel (α-subunit)loss of function[4]
LQT5KCNE1MinKIKs channel (β-subunit)loss of function[5]
FAFKCNQ1KvLQT1IKs channel (α-subunit)gain of function[6–8]
SQT2KCNQ1KvLQT1IKs channel (α-subunit)gain of function[9]
IKr diseaseLQT2KCNH2HERGIKr channel (α-subunit)loss of function[10]
LQT6KCNE2MiRP1IKr channel (β-subunit)loss of function[11]
SQT1KCNH2HERGIKr channel (α-subunit)gain of function[12]
INa diseaseLQT3SCN5ANav1.5INa channelgain of function[13]
Brugada syndromeSCN5ANav1.5INa channelloss of function[14,15]
FCDSCN5AINa channelloss of function[16]
IK1 diseaseAndersen syndromeKCNJ2Kir2.1IK1 channel[17]
SQT3KCNJ2Kir2.1IK1 channelgain of function[18]
Ankyrin diseaseLQT4ANK2Ankyrin BAnkyrin[19]

Summary of genetic findings in inherited arrhythmogenic diseases. LQT = Long QT syndrome, FAF = familial atrial fibrillation, SQT = short QT syndrome, FCD = familial conduction disease.

DiseaseDisease subtype/classificationGeneProteinIon channel typeMolecular defectReference
IKs diseaseLQT1KCNQ1KvLQT1IKs channel (α-subunit)loss of function[4]
LQT5KCNE1MinKIKs channel (β-subunit)loss of function[5]
FAFKCNQ1KvLQT1IKs channel (α-subunit)gain of function[6–8]
SQT2KCNQ1KvLQT1IKs channel (α-subunit)gain of function[9]
IKr diseaseLQT2KCNH2HERGIKr channel (α-subunit)loss of function[10]
LQT6KCNE2MiRP1IKr channel (β-subunit)loss of function[11]
SQT1KCNH2HERGIKr channel (α-subunit)gain of function[12]
INa diseaseLQT3SCN5ANav1.5INa channelgain of function[13]
Brugada syndromeSCN5ANav1.5INa channelloss of function[14,15]
FCDSCN5AINa channelloss of function[16]
IK1 diseaseAndersen syndromeKCNJ2Kir2.1IK1 channel[17]
SQT3KCNJ2Kir2.1IK1 channelgain of function[18]
Ankyrin diseaseLQT4ANK2Ankyrin BAnkyrin[19]
DiseaseDisease subtype/classificationGeneProteinIon channel typeMolecular defectReference
IKs diseaseLQT1KCNQ1KvLQT1IKs channel (α-subunit)loss of function[4]
LQT5KCNE1MinKIKs channel (β-subunit)loss of function[5]
FAFKCNQ1KvLQT1IKs channel (α-subunit)gain of function[6–8]
SQT2KCNQ1KvLQT1IKs channel (α-subunit)gain of function[9]
IKr diseaseLQT2KCNH2HERGIKr channel (α-subunit)loss of function[10]
LQT6KCNE2MiRP1IKr channel (β-subunit)loss of function[11]
SQT1KCNH2HERGIKr channel (α-subunit)gain of function[12]
INa diseaseLQT3SCN5ANav1.5INa channelgain of function[13]
Brugada syndromeSCN5ANav1.5INa channelloss of function[14,15]
FCDSCN5AINa channelloss of function[16]
IK1 diseaseAndersen syndromeKCNJ2Kir2.1IK1 channel[17]
SQT3KCNJ2Kir2.1IK1 channelgain of function[18]
Ankyrin diseaseLQT4ANK2Ankyrin BAnkyrin[19]

Summary of genetic findings in inherited arrhythmogenic diseases. LQT = Long QT syndrome, FAF = familial atrial fibrillation, SQT = short QT syndrome, FCD = familial conduction disease.

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