Paediatric or syndromic cardiomyopathy

Gene: GAA

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.

Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.

Panel Version: 0.16

Green List (high evidence)

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

• National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp

Green List (high evidence)

Glycogen storage disease II OMIM#232300

Created: 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