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Chapter: Paediatrics: Inherited metabolic disease

Paediatrics: Metabolic syndromes: cardiac syndromes

Cardiomyopathy may be the dominant or only clinical problem in a variety of IMDs.

Metabolic syndromes: cardiac syndromes



May be the dominant or only clinical problem in a variety of IMDs.


Glycogen metabolism (hypertrophic cardiomyopathy) 

Pompe disease (GSD II)—presents in early infancy with marked skeletal myopathy, mas-sive cardiomegaly (large QRS, left axis deviation, shortened PR, T-wave inversion).


Fatty acid metabolism (dilated cardiomyopathy)


   Systemic carnitine deficiency: presents with skeletal myopathy, hypotonia encephalopathy, hepatic syndrome (hepatomegaly, hypoglycaemia, hepatocellular dysfunction).


   Long or very long chain acyl-CoA dehydrogenase deficiency: presents with myopathy, exercise intolerance with myoglobinuria, hypotonia, encephalopathy, hepatic syndrome 9 hyperammonaemia.


Organic acidopathy (dilated cardiomyopathy) 

Propionic acidaemia— intermittent metabolic acidosis; ketosis; hyperammonaemia; neutropenia.


Mitochondrial cardiomyopathy (hypertrophic or dilated)


Sphingolipidoses (hypertrophic cardiomyopathy) 

Fabry disease— chronic neuritis pain in hands and feet; angiokeratomata; corneal opacities; pro-gressive renal failure; cardiac arrhythmias (intermittent SVT); cerebrov-ascular disease.


Mucopolysaccharidosis (hypertrophic cardiomyopathy)





Initial studies


   Plasma: lactate; carnitine (free and total); acylcarnitine profile; ammonium; liver function tests; urea, creatinine, and electrolytes


   Urine: organic acids


Suspected fatty acid oxidation defect 

Fibroblast cultures; enzyme studies


Suspected mitochondrial electron transport defect


   Plasma: lactate/pyruvate ratio


   CSF: lactate


   Imaging: MRI


   Electrophysiology: evoked potentials


   Tissue: muscle and skin biopsy studies


Suspected lysosomal storage disease


   Urine: mucopolysaccharide and oligosaccharide screen, glycolipids


   Imaging: skeletal radiology


Blood: lysosomal enzyme studies



IMD-related cardiomyopathy may be complicated by arrhythmias includ-ing:


Heart block: mitochondrial cytopathy; Fabry disease; carnitine– acylcarnitine translocase (CACT) deficiency; propionic acidaemia.

Tachyarrhythmia: fatty acid oxidation defects; CACT.


Coronary artery disease (CAD)


CAD occurs in Fabry disease, familial hyperlipidaemias, and familial hyper-cholesterolaemia (FH).

FH affects 1/500 individuals with the following effects.


Homozygotes: severe cholesterolaemia; ischaemic heart disease in infancy or childhood; cholesterol accumulation in the skin (tuberous xanthomas, subcutaneous nodules); and arcus senilis.

Heterozygotes: fatal myocardial infarction in third decade.

Familial hyperlipidaemias causing premature CAD 

Familial hyperlipidaemias causing premature CAD include the following.

Type IV: hyperlipidaemia (increased very low-density lipoproteins).


Type IIa, familial hypercholesterolaemia: hypercholesterolaemia (increased low-density lipoproteins) with tuberous xanthomas, tendinous xanthomas, and arcus senilis.


Type IIb: combined hyperlipidaemia (increased low- and very low-density lipoproteins).


Type III, familial dysbetalipoproteinaemia: B-very low-density lipoproteins with eruptive tuberous xanthoma, planar xanthomas, peripheral vascular disease.


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