CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (CMH6)

Question 1

What is  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (CMH6)?

Accepted Answer

very rare

autosomal dominant

mutation in the PRKAG2 gene

glycogen accumulation in the cardiac tissue

We highlight the potential for patients with PRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease [Torok RD 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 600858

Question 3

Which enzymes are involved?

Accepted Answer

5'-AMP-activated protein kinase subunit gamma-2

Disease	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (CMH6)
Synonym	PRKAG2
OMIM	600858 OMIM = Online Mendelian Inheritance of Men
Orphanet	439854
Protein (UniProt)	5'-AMP-activated protein kinase subunit gamma-2
Gene locus	7q36.1
ICD
Summary	very rare autosomal dominant mutation in the PRKAG2 gene glycogen accumulation in the cardiac tissue We highlight the potential for patients with PRKAG2 mutations to mimic Pompe disease in infancy and the need for confirmatory testing when diagnosing Pompe disease [Torok RD 2017]
Laboratory findings
Symptoms	bradycardia cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic ECG abnormalities [-] nephropathy onset, childhood onset, infancy Wolf-Parkinson-White syndrome