Paediatric or syndromic cardiomyopathy

Gene: ACADVL

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)

Cardiomyopathy is a common symptom of very long chain acyl-CoA dehydrogenase deficiency.

Created: 3 Oct 2019, 12:29 p.m. | Last Modified: 3 Oct 2019, 12:29 p.m.

Panel Version: 0.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VLCAD deficiency 201475

Publications

• 24285112
• 9973285

Green List (high evidence)

Comment when marking as ready: Mode of inheritance for this gene for the phenotype described in the MetBioNet guideline checked against OMIM.

Created: 18 Apr 2019, 11:58 a.m.

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
Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); Liver disease, hepatomegaly, hypoketotic hypoglycaemia; HCM; DCM, 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)

OMIM#201475 VL chain acyl-CoA dehydrogenase deficiency.

Created: 25 Mar 2019, 4:30 p.m.

Recommended testing for paediatric cardiomyopathy: Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net) Evans Mol Genet Metab 118 (2016) 282-287 - review of patients, early onset cardiomyopathy is one of key features.

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