Table 2

Known arrhythmia reports from all the sources including the individual case reports, as well as Radboudumc and GenIDA registries

SourceCardiac arrhythmiaTreatmentAge at diagnosis (years)Structural heart diseaseMutation variantZygosity (inheritance)
RadboudumcParoxysmal atrial fibrillationMetoprolol25NoGRCh38
g.137728442C>T
EHMT1
c.736C>T
p.(Arg246a)
Heterozygous (unknown)
RadboudumcSupraventricular tachycardia (SVT)Ablation and verapamil18NoGRCh38
g.137798894C>T
EHMT1
c.2587C>T
p.(Gln863a)
Heterozygous (unknown)
RadboudumcParoxysmal SVT (accelerated nodal rhythm)Verapamil23NoGRCh38
g.137776794dup
EHMT1
c.1968dup
p.(Gln657Alafsa41)
Heterozygous (unknown)
RadboudumcNon-sustained ventricular tachycardia (NSVT)Monitoring/expectative22Valvular insufficiency normal EFGRCh38
NC_000009.12
g.pter(203862_534475)
del(137507220_138125938)
Heterozygous (unknown)
GenIDABursts of atrial fibrillationUnknown<29Not reportedUnknownUnknown
GenIDAChronic atrial ectopic tachycardiaUnknown<19Not reportedUnknownUnknown
Patient 1Paroxysmal atrial fibrillation, atrial flutter, premature atrial contractions (PACs), NSVTPulmonary vein isolation ablation23NoEHMT1
16 kb intragenic duplication encompassing exons 5–6a
Heterozygous (paternal)
Patient 2Paroxysmal atrial fibrillationMetoprolol25NoEHMT1
IVS22-1G>A c.3259G>A
Heterozygous (de novo)
Patient 3Unstable SVT
(incessant atrial tachycardia)
Atenolol, amiodarone17NoEHMT1
c.3462-10C-G
(IVS 24-10C-G)
Heterozygous (unknown)
SourceCardiac arrhythmiaTreatmentAge at diagnosis (years)Structural heart diseaseMutation variantZygosity (inheritance)
RadboudumcParoxysmal atrial fibrillationMetoprolol25NoGRCh38
g.137728442C>T
EHMT1
c.736C>T
p.(Arg246a)
Heterozygous (unknown)
RadboudumcSupraventricular tachycardia (SVT)Ablation and verapamil18NoGRCh38
g.137798894C>T
EHMT1
c.2587C>T
p.(Gln863a)
Heterozygous (unknown)
RadboudumcParoxysmal SVT (accelerated nodal rhythm)Verapamil23NoGRCh38
g.137776794dup
EHMT1
c.1968dup
p.(Gln657Alafsa41)
Heterozygous (unknown)
RadboudumcNon-sustained ventricular tachycardia (NSVT)Monitoring/expectative22Valvular insufficiency normal EFGRCh38
NC_000009.12
g.pter(203862_534475)
del(137507220_138125938)
Heterozygous (unknown)
GenIDABursts of atrial fibrillationUnknown<29Not reportedUnknownUnknown
GenIDAChronic atrial ectopic tachycardiaUnknown<19Not reportedUnknownUnknown
Patient 1Paroxysmal atrial fibrillation, atrial flutter, premature atrial contractions (PACs), NSVTPulmonary vein isolation ablation23NoEHMT1
16 kb intragenic duplication encompassing exons 5–6a
Heterozygous (paternal)
Patient 2Paroxysmal atrial fibrillationMetoprolol25NoEHMT1
IVS22-1G>A c.3259G>A
Heterozygous (de novo)
Patient 3Unstable SVT
(incessant atrial tachycardia)
Atenolol, amiodarone17NoEHMT1
c.3462-10C-G
(IVS 24-10C-G)
Heterozygous (unknown)

Atrial arrhythmias are delineated in bold.

aPatient also harboured heterozygous PRKAG2, c.1571T>G (p.Ile524Arg) variant of uncertain significance.

Table 2

Known arrhythmia reports from all the sources including the individual case reports, as well as Radboudumc and GenIDA registries

SourceCardiac arrhythmiaTreatmentAge at diagnosis (years)Structural heart diseaseMutation variantZygosity (inheritance)
RadboudumcParoxysmal atrial fibrillationMetoprolol25NoGRCh38
g.137728442C>T
EHMT1
c.736C>T
p.(Arg246a)
Heterozygous (unknown)
RadboudumcSupraventricular tachycardia (SVT)Ablation and verapamil18NoGRCh38
g.137798894C>T
EHMT1
c.2587C>T
p.(Gln863a)
Heterozygous (unknown)
RadboudumcParoxysmal SVT (accelerated nodal rhythm)Verapamil23NoGRCh38
g.137776794dup
EHMT1
c.1968dup
p.(Gln657Alafsa41)
Heterozygous (unknown)
RadboudumcNon-sustained ventricular tachycardia (NSVT)Monitoring/expectative22Valvular insufficiency normal EFGRCh38
NC_000009.12
g.pter(203862_534475)
del(137507220_138125938)
Heterozygous (unknown)
GenIDABursts of atrial fibrillationUnknown<29Not reportedUnknownUnknown
GenIDAChronic atrial ectopic tachycardiaUnknown<19Not reportedUnknownUnknown
Patient 1Paroxysmal atrial fibrillation, atrial flutter, premature atrial contractions (PACs), NSVTPulmonary vein isolation ablation23NoEHMT1
16 kb intragenic duplication encompassing exons 5–6a
Heterozygous (paternal)
Patient 2Paroxysmal atrial fibrillationMetoprolol25NoEHMT1
IVS22-1G>A c.3259G>A
Heterozygous (de novo)
Patient 3Unstable SVT
(incessant atrial tachycardia)
Atenolol, amiodarone17NoEHMT1
c.3462-10C-G
(IVS 24-10C-G)
Heterozygous (unknown)
SourceCardiac arrhythmiaTreatmentAge at diagnosis (years)Structural heart diseaseMutation variantZygosity (inheritance)
RadboudumcParoxysmal atrial fibrillationMetoprolol25NoGRCh38
g.137728442C>T
EHMT1
c.736C>T
p.(Arg246a)
Heterozygous (unknown)
RadboudumcSupraventricular tachycardia (SVT)Ablation and verapamil18NoGRCh38
g.137798894C>T
EHMT1
c.2587C>T
p.(Gln863a)
Heterozygous (unknown)
RadboudumcParoxysmal SVT (accelerated nodal rhythm)Verapamil23NoGRCh38
g.137776794dup
EHMT1
c.1968dup
p.(Gln657Alafsa41)
Heterozygous (unknown)
RadboudumcNon-sustained ventricular tachycardia (NSVT)Monitoring/expectative22Valvular insufficiency normal EFGRCh38
NC_000009.12
g.pter(203862_534475)
del(137507220_138125938)
Heterozygous (unknown)
GenIDABursts of atrial fibrillationUnknown<29Not reportedUnknownUnknown
GenIDAChronic atrial ectopic tachycardiaUnknown<19Not reportedUnknownUnknown
Patient 1Paroxysmal atrial fibrillation, atrial flutter, premature atrial contractions (PACs), NSVTPulmonary vein isolation ablation23NoEHMT1
16 kb intragenic duplication encompassing exons 5–6a
Heterozygous (paternal)
Patient 2Paroxysmal atrial fibrillationMetoprolol25NoEHMT1
IVS22-1G>A c.3259G>A
Heterozygous (de novo)
Patient 3Unstable SVT
(incessant atrial tachycardia)
Atenolol, amiodarone17NoEHMT1
c.3462-10C-G
(IVS 24-10C-G)
Heterozygous (unknown)

Atrial arrhythmias are delineated in bold.

aPatient also harboured heterozygous PRKAG2, c.1571T>G (p.Ile524Arg) variant of uncertain significance.

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