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Danon, disease
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(Muscle glycogen storage disease type IIb, Antopol disease)
Prevalence: < 1.106. It corresponds to 4 % of the hypertrophic cardiomyopathies in childhood. Glycogen storage disease (glycogenosis). X-linked dominant transmission of a mutation of the LAMP2 gene (Xp24) (Lysosomal-Associated Membrane Protein 2) (Xq24 ) coding for a protein of the lysosomal membrane playing an important role in the fusion with autophagic vesicles.
Association of:
- an hypertrophic cardiomyopathy, occasionally obstructive, often associated with pre-excitation disorders (Wolff-Parkinson-White syndrome). Without heart transplantation: death by rhythm disorders or heart failure around the age of 18-20 years. Girls with the mutation present with a less severe cardiomyopathy but severe cardiac rhythm disorders. Prevalence: 4 % of hypertrophic cardiomyopathies of the child.
- often minor myopathy: rapid fatigue and weakness of the proximal muscles, high levels of CPK, worsened by corticoids.
- neurocognitive problems: mental and speech retardation, behavioural problems
- ocular anomalies (69 %): choriocapillary atrophy, decreased retinal pigmentation, anomalies of the lens, disturbances of the visual field
Muscle biopsy: vacuoles containing autophagic material and glycogen.
Onset in childhood (more often after 10 years of age).
Anesthetic implications:
recent cardiac evaluation (ECG and echocardiography); management of a dilated or obstructive cardiomyopathy in terms of preload, afterload, and contractility.
References :
- August DA.
Anesthetic implications of Danon disease.
Pediatr Anesth 2009 ; 19 : 1026-8.
Updated: January 2021