AMPK Methods and Protocols

Table 1
(continued)

Variant Onset

Number of families/

patients Key features Reference

p.His344Pro Adult Family of two LVH and heart failure, VPE and

conduction system disease

[76]

p.Arg350_

Glu351insLeu

Adult Family of five Severe LVH and LV dysfunction

requiring cardiac transplant

High incidence of SVT and SCD

[10]

p.His383Arg Pediatric Family of three LVH and early cardiac dilation,

short PR interval and bizarre

QRS complex

[10]

p.Arg384Thr Neonatal Single patient Biventricular hypertrophy, severe

atrial wall thickening; short PR

interval and fetal bradycardia;

cardiac and skeletal muscle

glycogenosis; death at 5 months

[25]

p.Thr400Asn Adult Single patient VPE, SVT, sinus node

dysfunction, required

pacemaker implantation, LVH

[13]

p.Lys485Glu Adult Single patient Sinus bradycardia, VPE, episodes

of AF with rapid ventricular

conduction, LVH

Early LV dilatation requiring

transplantation

[74]

p.Tyr487His Pediatric Family of three Modest LVH, extremely short

PR, sudden cardiac death

[89]

p.Glu506Gln Infancy Family of three Severe biventricular and septal

hypertrophy, requiring

eventual cardiac transplant;

short PR interval and

ventricular pre-excitation

Normal glycogen content and

absence of glycogen deposits

on histology and EM of

endomyocardial biopsy

[55, 67]

p.Glu506Lys Adult Family of eight Severe biventricular hypertrophy

and short PR interval in all

patients

One patient with sinus node

dysfunction requiring

pacemaker implantation

[72]

p.His530Arg Adult Nine patients

(family of four,

family of three,

and two

individuals)

LVH (8/9 patients), cardiac

transplant in one patient

VPE, SVT with SCD in two

patients, progressive

conduction system disease

[67, 68, 75, 90]

(continued)

PRKAG2 syndrome 585