Table 1 Lysosomal storage disease causing cardiac disease.
| Disease group and subtypes | General manifestations | Cardiac manifestations |
|---|---|---|
| Glycogen storage diseases (lysosomal) | ||
| 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 | ||
| 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) | |
| 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 | ||
| 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 |
LVH, left ventricular hypertrophy; RVH, right ventricular hypertrophy.