Previous cardiomyopathies - including childhood onset
Gene: GAA
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Glycogen storage disease type II (Pompe disease); Hypotonia, muscle weakness, progressive respiratory failure; HCM, mixed
Publications
Glycogen storage disease II OMIM#232300Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is a feature in the infantile forms of Pompe disease - Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym. Slonim et al. (2000) proposed a second, milder subtype of the infantile form. They reported 12 infants who showed less severe cardiomyopathy, absence of left ventricular outflow obstruction, and traces (less than 5%) of residual acid maltase activity; 9 of the 12 had longer survival with assisted ventilation and intubation.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source MetBioNet was added to GAA. Added phenotypes Glycogen storage disease type II (Pompe disease); HCM, mixed; Hypotonia, muscle weakness, progressive respiratory failure for gene: GAA
Source London South GLH was added to GAA.
Source South West GLH was added to GAA.
Eleanor Williams: Note: no phenotype in the sour
Phenotypes for gene: GAA were changed from syndromic HCM to syndromic HCM; Glycogen storage disease II, 232300
Added phenotypes syndromic HCM for gene: GAA
gene: GAA was added gene: GAA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal