AMPK Methods and Protocols

follow-up frequency (Table3)[ 17]. Clinical care of individuals with

PRKAG2mutation-related disease requires expertise from multi-

ple disciplines (specialists in inherited cardiac conditions, cardiac

electrophysiology, cardiac imaging, heart failure, clinical genetics,

genetics counselling, and potentially cardiothoracic and transplan-

tation surgery). Management is currently based largely on the

principles and experience of supportive care used to treat patients

with more common familial HCM [1] and carefully tailored to

individual presentation, mindful of the specific family history

(e.g. of SCD), and entailing long-term clinical follow-up. Particular

attention is paid to managing the complex spectrum of cardiac

electrophysiological manifestations (including sinoatrial disease,

atrial tachyarrhythmia, ventricular pre-excitation, and AV block),

risk stratification for sudden arrhythmic death, and surveillance for

potential progression to frank systolic heart failure.

Table 3
Proposed guidelines for treating patients with the PRKAG2 syndrome

Clinical feature Diagnosis Proposed treatment

Cardiomyopathy ECG at least every 1 year

Echocardiography at baseline and every

1–2 years (depending on

morphological changes or clinical

progression)

Exercise stress testing with O2

consumption for effort inducible

arrhythmias and for prognostic

assessment

Serum BNP at baseline and for clinical

progression

Holter ECG monitoring/event monitor

to stratify the risk for sudden cardiac

death or symptomatic patients

Consider individual risk factors for SCD

and specific EPS patterns

Electrophysiological assessment

Dynamic arterial pressure monitoring for

patients with hypertension

Standard heart failure treatment and

specifically

Appropriate fluid management avoiding

dehydration especially when

hypertrophy is more severe

Prompt consideration for cardiac

transplantation in those patients with

clinical progression or end-stage

heart failure

Standard antiarrhythmic treatment

Early consideration for PM implantation

ICD implantation

AV accessory pathway ablation

Hypertension treatment avoiding

dehydrating drugs if systolic and

diastolic functions preserved

Skeletal

myopathy

Specialist neuromuscular evaluation

Muscle biopsy may be performed for

diagnostic workup

Physical therapy and rehabilitation

Genetic Accurate familial history and PRKAG2

genetic testing for probands and for

at-risk relatives

Genetic and reproductive risk

counselling

AVAtrioventricular,BNPbrain natriuretic peptide,EPSelectrophysiological study,ICDimplantable cardioverter
defibrillator,PMpacemaker,SCDsudden cardiac death
Reproduced from Table 5 of ref.17 with permission from Wolters Kluwer Health, Inc.http://circep.ahajournals.org/
content/9/1/e003121.long

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