Cardiomyopathy, familial hypertrophic, 6

General Information (adopted from Orphanet):

Synonyms, Signs: CMH6
Number of Symptoms 21
OrphanetNr:
OMIM Id: 600858
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Monogenic
Autosomal dominant
15877279 [IBIS]
Age of onset: Childhood
Adult
19787389 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, familial hypertrophic, 6 is caused by mutation in PRKAG2 (PMID:11371514).

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain 11371514 IBIS 92 / 7739
2
(HPO:0005165) Shortened PR interval 11371514 IBIS 9 / 7739
3
(HPO:0001678) Atrioventricular block 16487706 IBIS 59 / 7739
4
(HPO:0001635) Congestive heart failure 11371514 IBIS 232 / 7739
5
(HPO:0001645) Sudden cardiac death 11371514 IBIS 84 / 7739
6
(HPO:0011713) Left bundle branch block 16487706 IBIS 30 / 7739
7
(HPO:0001688) Sinus bradycardia 16487706 IBIS 18 / 7739
8
(HPO:0001639) Hypertrophic cardiomyopathy 11371514 IBIS 137 / 7739
9
(HPO:0001670) Asymmetric septal hypertrophy 19787389 IBIS 19 / 7739
10
(HPO:0005110) Atrial fibrillation 11586962 IBIS 71 / 7739
11
(HPO:0011675) Arrhythmia 15877279 IBIS 226 / 7739
12
(HPO:0006677) Prolonged QRS complex 11371514 IBIS 16 / 7739
13
(HPO:0004309) Ventricular preexcitation Occasional [IBIS] 10% (n=25) 7657794 IBIS 6 / 7739
14
(HPO:0001716) Wolff-Parkinson-White syndrome 11586962 IBIS 21 / 7739
15
(HPO:0009051) Increased muscle glycogen content 19787389 IBIS 8 / 7739
16
(OMIM) Glycogenosis of skeletal muscle, mild (in some patients) 15877279 IBIS 1 / 7739
17
(MedDRA:10014395) Electrocardiogram T wave inversion 11371514 IBIS 1 / 7739
18
(OMIM) Enlarged myocytes without myofiber disarray 11827995 IBIS 2 / 7739
19
(OMIM) Glycogen-containing cytosolic vacuoles within cardiomyocytes 11827995 IBIS 1 / 7739
20
(MedDRA:10007558) Cardiac failure chronic 11371514 IBIS 1 / 7739
21
(MedDRA:10061990) Glycogen storage disorder 11827995 IBIS 1 / 7739

Associated genes:

PRKAG2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, ...
Clinical Description OMIM Laforet et al. (2006) studied a 38-year-old man who presented after 4 episodes of 'faintness' after swimming and had a 15-year history of lasting muscle stiffness without weakness in the arms and legs after prolonged exercise. He had ...
Molecular genetics OMIM Sinha et al. (2000) reported a family in which 12 persons had ventricular preexcitation, 6 of whom also had cardiac hypertrophy. Three patients underwent successful ablation of typical accessory atrioventricular bundles, with subsequent loss of preexcitation. Gollob et ...