Glycogen storage diseases (lysosomal)
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Autosomal recessive
| Massive LVH and RVH, cardiac failure (only in the infantile form) |
Myopathy, hypotonia, hepatomegaly, macroglossia cardiopulmonary failure, | Short PR, broad QRS; endomyocardial fibrosis |
Type IIb (Danon disease, LAMP-2 deficiency) |
X-linked
| Hypertrophic cardiomyopathy, isolated cardiac variants, short PR, progressive conduction system disease |
Myopathy, mental retardation |
Mucopolysaccharidoses
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IH (Hurler) |
Autosomal recessive
| Valvular involvement (thickening, regurgitation, stenosis); endomyocardial infiltration; interstitial infiltration—fibrosis; hypertrophy; systolic dysfunction—dilated cardiomyopathy (less frequent); coronary artery infiltration—stenosis; aortic stenosis (abdominal); arterial hypertension |
IS (Scheie) |
X-linked – MPS II (Hunter)
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II (Hunter) | Dysmorphic features, organomegaly, decreased joint mobility, bone deformities, loss of motor skills, mental retardation, corneal clouding, recurrent otitis or pneumonia, hearing loss |
III (Sanfilippo) |
IV (Morquio) |
VI (Maroteaux-Lamy) |
VII (Sly) |
IX (Natowicz) |
Sphingolipidoses
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Gaucher disease (β-glucocerebrodiase) |
Autosomal recessive
| Pulmonary hypertension, cor pulmonale; pericardial effusion (rare); valvular involvement (rare) |
Chronic non-neuronopathic (type I) | Gaucher cells—lipid laden macrophages |
Acute (type II) | Hepatosplenomegaly, anaemia, thrombocytopenia, bone involvement |
Chronic neuronopathic (type III) | Neurodegeneration (neuronopathic forms) |
Niemann Pick disease (acid sphingomyelinase) |
Autosomal recessive
| Endomyocardial fibrosis (very rare) |
Type A | Early onset, neurological involvement, hypotonia, psychomotor retardation (type A), hepatosplenomegaly, pancytopenia, pulmonary involvement |
Type B |
Anderson-Fabry disease (α-galactosidase A) |
X-linked
| Cardiac hypertrophy; short PR, progressive conduction system dysfunction, arrhythmias; valvular involvement; coronary involvement (decreased coronary reserve) |
Multiorgan involvement |